2q37 copy number variation syndrome (WP5224)

Homo sapiens

Authors

Daria Shumkova and Friederike Ehrhart

Activity

Discuss this pathway

Check for ongoing discussions or start your own.

Cited In

Are you planning to include this pathway in your next publication? See How to Cite and add a link here to your paper once it's online.

Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Pathway Ontology

disease pathway

References

1. Human thymidylate kinase. Purification, characterization, and kinetic behavior of the thymidylate kinase derived from chronic myelocytic leukemia. Lee LS, Cheng Y. J Biol Chem. 1977 Aug 25;252(16):5686–91. PubMed Europe PMC Scholia
2. Characterization of the human prolyl 4-hydroxylase tetramer and its multifunctional protein disulfide-isomerase subunit synthesized in a baculovirus expression system. Vuori K, Pihlajaniemi T, Marttila M, Kivirikko KI. Proc Natl Acad Sci U S A. 1992 Aug 15;89(16):7467–70. PubMed Europe PMC Scholia
3. Characterization of selenocysteine lyase in human tissues and its relationship to tissue selenium concentrations. Daher R, Van Lente F. J Trace Elem Electrolytes Health Dis. 1992 Sep;6(3):189–94. PubMed Europe PMC Scholia
4. Molecular cloning of the alpha-subunit of human prolyl 4-hydroxylase: the complete cDNA-derived amino acid sequence and evidence for alternative splicing of RNA transcripts. Helaakoski T, Vuori K, Myllylä R, Kivirikko KI, Pihlajaniemi T. Proc Natl Acad Sci U S A. 1989 Jun;86(12):4392–6. PubMed Europe PMC Scholia
5. Cloning and chromosomal mapping of three novel genes, GPR9, GPR10, and GPR14, encoding receptors related to interleukin 8, neuropeptide Y, and somatostatin receptors. Marchese A, Heiber M, Nguyen T, Heng HH, Saldivia VR, Cheng R, et al. Genomics. 1995 Sep 20;29(2):335–44. PubMed Europe PMC Scholia
6. A novel protein complex involved in signal transduction possessing similarities to 26S proteasome subunits. Seeger M, Kraft R, Ferrell K, Bech-Otschir D, Dumdey R, Schade R, et al. FASEB J. 1998 Apr;12(6):469–78. PubMed Europe PMC Scholia
7. RAMPs regulate the transport and ligand specificity of the calcitonin-receptor-like receptor. McLatchie LM, Fraser NJ, Main MJ, Wise A, Brown J, Thompson N, et al. Nature. 1998 May 28;393(6683):333–9. PubMed Europe PMC Scholia
8. Molecular cloning and characterization of a transcription regulator with homology to GC-binding factor. Reed AL, Yamazaki H, Kaufman JD, Rubinstein Y, Murphy B, Johnson AC. J Biol Chem. 1998 Aug 21;273(34):21594–602. PubMed Europe PMC Scholia
9. GC factor 2 represses platelet-derived growth factor A-chain gene transcription and is itself induced by arterial injury. Khachigian LM, Santiago FS, Rafty LA, Chan OL, Delbridge GJ, Bobik A, et al. Circ Res. 1999 Jun 11;84(11):1258–67. PubMed Europe PMC Scholia
10. Plexin-neuropilin-1 complexes form functional semaphorin-3A receptors. Takahashi T, Fournier A, Nakamura F, Wang LH, Murakami Y, Kalb RG, et al. Cell. 1999 Oct 1;99(1):59–69. PubMed Europe PMC Scholia
11. HDAC4, a human histone deacetylase related to yeast HDA1, is a transcriptional corepressor. Wang AH, Bertos NR, Vezmar M, Pelletier N, Crosato M, Heng HH, et al. Mol Cell Biol. 1999 Nov;19(11):7816–27. PubMed Europe PMC Scholia
12. Rho-specific binding and guanine nucleotide exchange catalysis by KIAA0380, a dbl family member. Rümenapp U, Blomquist A, Schwörer G, Schablowski H, Psoma A, Jakobs KH. FEBS Lett. 1999 Oct 15;459(3):313–8. PubMed Europe PMC Scholia
13. Covalent modification of all members of human cullin family proteins by NEDD8. Hori T, Osaka F, Chiba T, Miyamoto C, Okabayashi K, Shimbara N, et al. Oncogene. 1999 Nov 18;18(48):6829–34. PubMed Europe PMC Scholia
14. Phosphorylation and destabilization of human period I clock protein by human casein kinase I epsilon. Keesler GA, Camacho F, Guo Y, Virshup D, Mondadori C, Yao Z. Neuroreport. 2000 Apr 7;11(5):951–5. PubMed Europe PMC Scholia
15. MIP-T3, a novel protein linking tumor necrosis factor receptor-associated factor 3 to the microtubule network. Ling L, Goeddel DV. J Biol Chem. 2000 Aug 4;275(31):23852–60. PubMed Europe PMC Scholia
16. Molecular cloning and characterization of a human beta-Gal-3’-sulfotransferase that acts on both type 1 and type 2 (Gal beta 1-3/1-4GlcNAc-R) oligosaccharides. Honke K, Tsuda M, Koyota S, Wada Y, Iida-Tanaka N, Ishizuka I, et al. J Biol Chem. 2001 Jan 5;276(1):267–74. PubMed Europe PMC Scholia
17. Human Dermo-1 has attributes similar to twist in early bone development. Lee MS, Lowe G, Flanagan S, Kuchler K, Glackin CA. Bone. 2000 Nov;27(5):591–602. PubMed Europe PMC Scholia
18. Properties and functions of diacylglycerol kinases. van Blitterswijk WJ, Houssa B. Cell Signal. 2000 Oct;12(9–10):595–605. PubMed Europe PMC Scholia
19. Neural plate patterning: upstream and downstream of the isthmic organizer. Wurst W, Bally-Cuif L. Nat Rev Neurosci. 2001 Feb;2(2):99–108. PubMed Europe PMC Scholia
20. Characterization of a 95 kDa high affinity human high density lipoprotein-binding protein. Bocharov AV, Vishnyakova TG, Baranova IN, Patterson AP, Eggerman TL. Biochemistry. 2001 Apr 10;40(14):4407–16. PubMed Europe PMC Scholia
21. COP9 signalosome-specific phosphorylation targets p53 to degradation by the ubiquitin system. Bech-Otschir D, Kraft R, Huang X, Henklein P, Kapelari B, Pollmann C, et al. EMBO J. 2001 Apr 2;20(7):1630–9. PubMed Europe PMC Scholia
22. Modulation of integrin signal transduction by ILKAP, a protein phosphatase 2C associating with the integrin-linked kinase, ILK1. Leung-Hagesteijn C, Mahendra A, Naruszewicz I, Hannigan GE. EMBO J. 2001 May 1;20(9):2160–70. PubMed Europe PMC Scholia
23. Promotion of NEDD-CUL1 conjugate cleavage by COP9 signalosome. Lyapina S, Cope G, Shevchenko A, Serino G, Tsuge T, Zhou C, et al. Science. 2001 May 18;292(5520):1382–5. PubMed Europe PMC Scholia
24. Functional expression of heteromeric calcitonin gene-related peptide and adrenomedullin receptors in yeast. Miret JJ, Rakhilina L, Silverman L, Oehlen B. J Biol Chem. 2002 Mar 1;277(9):6881–7. PubMed Europe PMC Scholia
25. Downregulation of otospiralin, a novel inner ear protein, causes hair cell degeneration and deafness. Delprat B, Boulanger A, Wang J, Beaudoin V, Guitton MJ, Ventéo S, et al. J Neurosci. 2002 Mar 1;22(5):1718–25. PubMed Europe PMC Scholia
26. Nucleocytoplasmic shuttling and mCRY-dependent inhibition of ubiquitylation of the mPER2 clock protein. Yagita K, Tamanini F, Yasuda M, Hoeijmakers JHJ, van der Horst GTJ, Okamura H. EMBO J. 2002 Mar 15;21(6):1301–14. PubMed Europe PMC Scholia
27. Regulation and function of the CGRP receptor complex in human granulopoiesis. Harzenetter MD, Keller U, Beer S, Riedl C, Peschel C, Holzmann B. Exp Hematol. 2002 Apr;30(4):306–12. PubMed Europe PMC Scholia
28. Structure of the Cul1-Rbx1-Skp1-F boxSkp2 SCF ubiquitin ligase complex. Zheng N, Schulman BA, Song L, Miller JJ, Jeffrey PD, Wang P, et al. Nature. 2002 Apr 18;416(6882):703–9. PubMed Europe PMC Scholia
29. Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions. Nagashima K, Torii S, Yi Z, Igarashi M, Okamoto K, Takeuchi T, et al. FEBS Lett. 2002 Apr 24;517(1–3):233–8. PubMed Europe PMC Scholia
30. Alternative splicing of the human diacylglycerol kinase delta gene generates two isoforms differing in their expression patterns and in regulatory functions. Sakane F, Imai SI, Yamada K, Murakami T, Tsushima S, Kanoh H. J Biol Chem. 2002 Nov 8;277(45):43519–26. PubMed Europe PMC Scholia
31. Binding of the concave surface of the Sds22 superhelix to the alpha 4/alpha 5/alpha 6-triangle of protein phosphatase-1. Ceulemans H, Vulsteke V, De Maeyer M, Tatchell K, Stalmans W, Bollen M. J Biol Chem. 2002 Dec 6;277(49):47331–7. PubMed Europe PMC Scholia
32. The energy-transducing NADH: quinone oxidoreductase, complex I. Yano T. Mol Aspects Med. 2002 Oct;23(5):345–68. PubMed Europe PMC Scholia
33. A novel FERM domain including guanine nucleotide exchange factor is involved in Rac signaling and regulates neurite remodeling. Kubo T, Yamashita T, Yamaguchi A, Sumimoto H, Hosokawa K, Tohyama M. J Neurosci. 2002 Oct 1;22(19):8504–13. PubMed Europe PMC Scholia
34. CAND1 binds to unneddylated CUL1 and regulates the formation of SCF ubiquitin E3 ligase complex. Zheng J, Yang X, Harrell JM, Ryzhikov S, Shim EH, Lykke-Andersen K, et al. Mol Cell. 2002 Dec;10(6):1519–26. PubMed Europe PMC Scholia
35. The protein tyrosine phosphatase PTP-BL associates with the midbody and is involved in the regulation of cytokinesis. Herrmann L, Dittmar T, Erdmann KS. Mol Biol Cell. 2003 Jan;14(1):230–40. PubMed Europe PMC Scholia
36. The extracellular domain of receptor activity-modifying protein 1 is sufficient for calcitonin receptor-like receptor function. Fitzsimmons TJ, Zhao X, Wank SA. J Biol Chem. 2003 Apr 18;278(16):14313–20. PubMed Europe PMC Scholia
37. Protein kinase CK2 and protein kinase D are associated with the COP9 signalosome. Uhle S, Medalia O, Waldron R, Dumdey R, Henklein P, Bech-Otschir D, et al. EMBO J. 2003 Mar 17;22(6):1302–12. PubMed Europe PMC Scholia
38. GGAPs, a new family of bifunctional GTP-binding and GTPase-activating proteins. Xia C, Ma W, Stafford LJ, Liu C, Gong L, Martin JF, et al. Mol Cell Biol. 2003 Apr;23(7):2476–88. PubMed Europe PMC Scholia
39. U-box proteins as a new family of ubiquitin ligases. Hatakeyama S, Nakayama K ichi I. Biochem Biophys Res Commun. 2003 Mar 21;302(4):635–45. PubMed Europe PMC Scholia
40. The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage. Groisman R, Polanowska J, Kuraoka I, Sawada J ichi, Saijo M, Drapkin R, et al. Cell. 2003 May 2;113(3):357–67. PubMed Europe PMC Scholia
41. Prion, amyloid beta-derived Cu(II) ions, or free Zn(II) ions support S-nitroso-dependent autocleavage of glypican-1 heparan sulfate. Mani K, Cheng F, Havsmark B, Jönsson M, Belting M, Fransson LA. J Biol Chem. 2003 Oct 3;278(40):38956–65. PubMed Europe PMC Scholia
42. DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation. Morris JA, Kandpal G, Ma L, Austin CP. Hum Mol Genet. 2003 Jul 1;12(13):1591–608. PubMed Europe PMC Scholia
43. The calpain system. Goll DE, Thompson VF, Li H, Wei W, Cong J. Physiol Rev. 2003 Jul;83(3):731–801. PubMed Europe PMC Scholia
44. MIP-T3 associates with IL-13Ralpha1 and suppresses STAT6 activation in response to IL-13 stimulation. Niu Y, Murata T, Watanabe K, Kawakami K, Yoshimura A, Inoue J ichiro, et al. FEBS Lett. 2003 Aug 28;550(1–3):139–43. PubMed Europe PMC Scholia
45. Hes6 promotes cortical neurogenesis and inhibits Hes1 transcription repression activity by multiple mechanisms. Gratton MO, Torban E, Jasmin SB, Theriault FM, German MS, Stifani S. Mol Cell Biol. 2003 Oct;23(19):6922–35. PubMed Europe PMC Scholia
46. RNAi-mediated depletion of the 15 KH domain protein, vigilin, induces death of dividing and non-dividing human cells but does not initially inhibit protein synthesis. Goolsby KM, Shapiro DJ. Nucleic Acids Res. 2003 Oct 1;31(19):5644–53. PubMed Europe PMC Scholia
47. GCF2: expression and molecular analysis of repression. Rikiyama T, Curtis J, Oikawa M, Zimonjic DB, Popescu N, Murphy BA, et al. Biochim Biophys Acta. 2003 Oct 1;1629(1–3):15–25. PubMed Europe PMC Scholia
48. Characterization of the human calcitonin gene-related peptide receptor subtypes associated with receptor activity-modifying proteins. Kuwasako K, Cao YN, Nagoshi Y, Tsuruda T, Kitamura K, Eto T. Mol Pharmacol. 2004 Jan;65(1):207–13. PubMed Europe PMC Scholia
49. ILKAP regulates ILK signaling and inhibits anchorage-independent growth. Kumar AS, Naruszewicz I, Wang P, Leung-Hagesteijn C, Hannigan GE. Oncogene. 2004 Apr 22;23(19):3454–61. PubMed Europe PMC Scholia
50. YSK1 is activated by the Golgi matrix protein GM130 and plays a role in cell migration through its substrate 14-3-3zeta. Preisinger C, Short B, De Corte V, Bruyneel E, Haas A, Kopajtich R, et al. J Cell Biol. 2004 Mar 29;164(7):1009–20. PubMed Europe PMC Scholia
51. YSK1 is activated by the Golgi matrix protein GM130 and plays a role in cell migration through its substrate 14-3-3zeta. Preisinger C, Short B, De Corte V, Bruyneel E, Haas A, Kopajtich R, et al. J Cell Biol. 2004 Mar 29;164(7):1009–20. PubMed Europe PMC Scholia
52. Identification of a dehydrogenase acting on D-2-hydroxyglutarate. Achouri Y, Noël G, Vertommen D, Rider MH, Veiga-Da-Cunha M, Van Schaftingen E. Biochem J. 2004 Jul 1;381(Pt 1):35–42. PubMed Europe PMC Scholia
53. Glypican-1 as an Abeta binding HSPG in the human brain: its localization in DIG domains and possible roles in the pathogenesis of Alzheimer’s disease. Watanabe N, Araki W, Chui DH, Makifuchi T, Ihara Y, Tabira T. FASEB J. 2004 Jun;18(9):1013–5. PubMed Europe PMC Scholia
54. BOK and NOXA are essential mediators of p53-dependent apoptosis. Yakovlev AG, Di Giovanni S, Wang G, Liu W, Stoica B, Faden AI. J Biol Chem. 2004 Jul 2;279(27):28367–74. PubMed Europe PMC Scholia
55. ADP-ribosylation factor (ARF)-like 7 (ARL7) is induced by cholesterol loading and participates in apolipoprotein AI-dependent cholesterol export. Engel T, Lueken A, Bode G, Hobohm U, Lorkowski S, Schlueter B, et al. FEBS Lett. 2004 May 21;566(1–3):241–6. PubMed Europe PMC Scholia
56. LC3, GABARAP and GATE16 localize to autophagosomal membrane depending on form-II formation. Kabeya Y, Mizushima N, Yamamoto A, Oshitani-Okamoto S, Ohsumi Y, Yoshimori T. J Cell Sci. 2004 Jun 1;117(Pt 13):2805–12. PubMed Europe PMC Scholia
57. HsAtg4B/HsApg4B/autophagin-1 cleaves the carboxyl termini of three human Atg8 homologues and delipidates microtubule-associated protein light chain 3- and GABAA receptor-associated protein-phospholipid conjugates. Tanida I, Sou Y shin, Ezaki J, Minematsu-Ikeguchi N, Ueno T, Kominami E. J Biol Chem. 2004 Aug 27;279(35):36268–76. PubMed Europe PMC Scholia
58. Neu4, a novel human lysosomal lumen sialidase, confers normal phenotype to sialidosis and galactosialidosis cells. Seyrantepe V, Landry K, Trudel S, Hassan JA, Morales CR, Pshezhetsky AV. J Biol Chem. 2004 Aug 27;279(35):37021–9. PubMed Europe PMC Scholia
59. The principle of temperature-dependent gating in cold- and heat-sensitive TRP channels. Voets T, Droogmans G, Wissenbach U, Janssens A, Flockerzi V, Nilius B. Nature. 2004 Aug 12;430(7001):748–54. PubMed Europe PMC Scholia
60. Identification of the UDP-glucuronosyltransferase isoforms involved in mycophenolic acid phase II metabolism. Picard N, Ratanasavanh D, Prémaud A, Le Meur Y, Marquet P. Drug Metab Dispos. 2005 Jan;33(1):139–46. PubMed Europe PMC Scholia
61. Specificity and regioselectivity of the conjugation of estradiol, estrone, and their catecholestrogen and methoxyestrogen metabolites by human uridine diphospho-glucuronosyltransferases expressed in endometrium. Lépine J, Bernard O, Plante M, Têtu B, Pelletier G, Labrie F, et al. J Clin Endocrinol Metab. 2004 Oct;89(10):5222–32. PubMed Europe PMC Scholia
62. Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, et al. Am J Hum Genet. 2005 Feb;76(2):358–60. PubMed Europe PMC Scholia
63. Function and regulation of cullin-RING ubiquitin ligases. Petroski MD, Deshaies RJ. Nat Rev Mol Cell Biol. 2005 Jan;6(1):9–20. PubMed Europe PMC Scholia
64. Control of mammalian circadian rhythm by CKIepsilon-regulated proteasome-mediated PER2 degradation. Eide EJ, Woolf MF, Kang H, Woolf P, Hurst W, Camacho F, et al. Mol Cell Biol. 2005 Apr;25(7):2795–807. PubMed Europe PMC Scholia
65. A mitotic septin scaffold required for Mammalian chromosome congression and segregation. Spiliotis ET, Kinoshita M, Nelson WJ. Science. 2005 Mar 18;307(5716):1781–5. PubMed Europe PMC Scholia
66. Identification of a novel aquaporin, AQP12, expressed in pancreatic acinar cells. Itoh T, Rai T, Kuwahara M, Ko SBH, Uchida S, Sasaki S, et al. Biochem Biophys Res Commun. 2005 May 13;330(3):832–8. PubMed Europe PMC Scholia
67. Evidence for mitochondrial localization of a novel human sialidase (NEU4). Yamaguchi K, Hata K, Koseki K, Shiozaki K, Akita H, Wada T, et al. Biochem J. 2005 Aug 15;390(Pt 1):85–93. PubMed Europe PMC Scholia
68. Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. Struys EA, Korman SH, Salomons GS, Darmin PS, Achouri Y, van Schaftingen E, et al. Ann Neurol. 2005 Oct;58(4):626–30. PubMed Europe PMC Scholia
69. Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins. Misra VK, Struys EA, O’brien W, Salomons GS, Glover T, Jakobs C, et al. Mol Genet Metab. 2005;86(1–2):200–5. PubMed Europe PMC Scholia
70. The chemokine SDF-1/CXCL12 binds to and signals through the orphan receptor RDC1 in T lymphocytes. Balabanian K, Lagane B, Infantino S, Chow KYC, Harriague J, Moepps B, et al. J Biol Chem. 2005 Oct 21;280(42):35760–6. PubMed Europe PMC Scholia
71. Novel role of cold/menthol-sensitive transient receptor potential melastatine family member 8 (TRPM8) in the activation of store-operated channels in LNCaP human prostate cancer epithelial cells. Thebault S, Lemonnier L, Bidaux G, Flourakis M, Bavencoffe A, Gordienko D, et al. J Biol Chem. 2005 Nov 25;280(47):39423–35. PubMed Europe PMC Scholia
72. Structural basis for the specificity and catalysis of human Atg4B responsible for mammalian autophagy. Sugawara K, Suzuki NN, Fujioka Y, Mizushima N, Ohsumi Y, Inagaki F. J Biol Chem. 2005 Dec 2;280(48):40058–65. PubMed Europe PMC Scholia
73. GCF2/LRRFIP1 represses tumor necrosis factor alpha expression. Suriano AR, Sanford AN, Kim N, Oh M, Kennedy S, Henderson MJ, et al. Mol Cell Biol. 2005 Oct;25(20):9073–81. PubMed Europe PMC Scholia
74. Glucuronidation of the aspirin metabolite salicylic acid by expressed UDP-glucuronosyltransferases and human liver microsomes. Kuehl GE, Bigler J, Potter JD, Lampe JW. Drug Metab Dispos. 2006 Feb;34(2):199–202. PubMed Europe PMC Scholia
75. Control of mammalian glycogen synthase by PAS kinase. Wilson WA, Skurat AV, Probst B, de Paoli-Roach A, Roach PJ, Rutter J. Proc Natl Acad Sci U S A. 2005 Nov 15;102(46):16596–601. PubMed Europe PMC Scholia
76. FARP2 triggers signals for Sema3A-mediated axonal repulsion. Toyofuku T, Yoshida J, Sugimoto T, Zhang H, Kumanogoh A, Hori M, et al. Nat Neurosci. 2005 Dec;8(12):1712–9. PubMed Europe PMC Scholia
77. ASB proteins interact with Cullin5 and Rbx2 to form E3 ubiquitin ligase complexes. Kohroki J, Nishiyama T, Nakamura T, Masuho Y. FEBS Lett. 2005 Dec 19;579(30):6796–802. PubMed Europe PMC Scholia
78. TTP specifically regulates the internalization of the transferrin receptor. Tosoni D, Puri C, Confalonieri S, Salcini AE, De Camilli P, Tacchetti C, et al. Cell. 2005 Dec 2;123(5):875–88. PubMed Europe PMC Scholia
79. The crystal structure of human Atg4b, a processing and de-conjugating enzyme for autophagosome-forming modifiers. Kumanomidou T, Mizushima T, Komatsu M, Suzuki A, Tanida I, Sou YS, et al. J Mol Biol. 2006 Jan 27;355(4):612–8. PubMed Europe PMC Scholia
80. ING tumor suppressor proteins are critical regulators of chromatin acetylation required for genome expression and perpetuation. Doyon Y, Cayrou C, Ullah M, Landry AJ, Côté V, Selleck W, et al. Mol Cell. 2006 Jan 6;21(1):51–64. PubMed Europe PMC Scholia
81. Human UDP-glucuronosyltransferase, UGT1A8, glucuronidates dihydrotestosterone to a monoglucuronide and further to a structurally novel diglucuronide. Murai T, Samata N, Iwabuchi H, Ikeda T. Drug Metab Dispos. 2006 Jul;34(7):1102–8. PubMed Europe PMC Scholia
82. Glypican-1 is frequently overexpressed in human gliomas and enhances FGF-2 signaling in glioma cells. Su G, Meyer K, Nandini CD, Qiao D, Salamat S, Friedl A. Am J Pathol. 2006 Jun;168(6):2014–26. PubMed Europe PMC Scholia
83. Kynurenic acid as a ligand for orphan G protein-coupled receptor GPR35. Wang J, Simonavicius N, Wu X, Swaminath G, Reagan J, Tian H, et al. J Biol Chem. 2006 Aug 4;281(31):22021–8. PubMed Europe PMC Scholia
84. Calpain 10: a mitochondrial calpain and its role in calcium-induced mitochondrial dysfunction. Arrington DD, Van Vleet TR, Schnellmann RG. Am J Physiol Cell Physiol. 2006 Dec;291(6):C1159-71. PubMed Europe PMC Scholia
85. A novel chemokine receptor for SDF-1 and I-TAC involved in cell survival, cell adhesion, and tumor development. Burns JM, Summers BC, Wang Y, Melikian A, Berahovich R, Miao Z, et al. J Exp Med. 2006 Sep 4;203(9):2201–13. PubMed Europe PMC Scholia
86. A novel family of membrane-bound E3 ubiquitin ligases. Ohmura-Hoshino M, Goto E, Matsuki Y, Aoki M, Mito M, Uematsu M, et al. J Biochem. 2006 Aug;140(2):147–54. PubMed Europe PMC Scholia
87. Differential effects of PER2 phosphorylation: molecular basis for the human familial advanced sleep phase syndrome (FASPS). Vanselow K, Vanselow JT, Westermark PO, Reischl S, Maier B, Korte T, et al. Genes Dev. 2006 Oct 1;20(19):2660–72. PubMed Europe PMC Scholia
88. Regulation by Per-Arnt-Sim (PAS) kinase of pancreatic duodenal homeobox-1 nuclear import in pancreatic beta-cells. An R, da Silva Xavier G, Hao HX, Semplici F, Rutter J, Rutter GA. Biochem Soc Trans. 2006 Nov;34(Pt 5):791–3. PubMed Europe PMC Scholia
89. HES6 reverses nuclear reprogramming of insulin-producing cells following cell fusion. Ball AJ, Abrahamsson AE, Tyrberg B, Itkin-Ansari P, Levine F. Biochem Biophys Res Commun. 2007 Apr 6;355(2):331–7. PubMed Europe PMC Scholia
90. Reactive oxygen species are essential for autophagy and specifically regulate the activity of Atg4. Scherz-Shouval R, Shvets E, Fass E, Shorer H, Gil L, Elazar Z. EMBO J. 2007 Apr 4;26(7):1749–60. PubMed Europe PMC Scholia
91. The Arl4 family of small G proteins can recruit the cytohesin Arf6 exchange factors to the plasma membrane. Hofmann I, Thompson A, Sanderson CM, Munro S. Curr Biol. 2007 Apr 17;17(8):711–6. PubMed Europe PMC Scholia
92. Targeted suppression of calpain-10 expression impairs insulin-stimulated glucose uptake in cultured primary human skeletal muscle cells. Brown AE, Yeaman SJ, Walker M. Mol Genet Metab. 2007 Aug;91(4):318–24. PubMed Europe PMC Scholia
93. Male germ cell expression of the PAS domain kinase PASKIN and its novel target eukaryotic translation elongation factor eEF1A1. Eckhardt K, Troger J, Reissmann J, Katschinski DM, Wagner KF, Stengel P, et al. Cell Physiol Biochem. 2007;20(1–4):227–40. PubMed Europe PMC Scholia
94. Septins regulate actin organization and cell-cycle arrest through nuclear accumulation of NCK mediated by SOCS7. Kremer BE, Adang LA, Macara IG. Cell. 2007 Sep 7;130(5):837–50. PubMed Europe PMC Scholia
95. Regulation of clathrin-dependent endocytosis by diacylglycerol kinase delta: importance of kinase activity and binding to AP2alpha. Kawasaki T, Kobayashi T, Ueyama T, Shirai Y, Saito N. Biochem J. 2008 Jan 15;409(2):471–9. PubMed Europe PMC Scholia
96. Substrate specificities and activities of AZAP family Arf GAPs in vivo. Cuthbert EJ, Davis KK, Casanova JE. Am J Physiol Cell Physiol. 2008 Jan;294(1):C263-70. PubMed Europe PMC Scholia
97. Genetic diversity at the UGT1 locus is amplified by a novel 3’ alternative splicing mechanism leading to nine additional UGT1A proteins that act as regulators of glucuronidation activity. Girard H, Lévesque E, Bellemare J, Journault K, Caillier B, Guillemette C. Pharmacogenet Genomics. 2007 Dec;17(12):1077–89. PubMed Europe PMC Scholia
98. Disposition of flavonoids via enteric recycling: enzyme stability affects characterization of prunetin glucuronidation across species, organs, and UGT isoforms. Joseph TB, Wang SWJ, Liu X, Kulkarni KH, Wang J, Xu H, et al. Mol Pharm. 2007;4(6):883–94. PubMed Europe PMC Scholia
99. Prolactin-releasing peptide. Lin SH. Results Probl Cell Differ. 2008;46:57–88. PubMed Europe PMC Scholia
100. Epithelial polarity requires septin coupling of vesicle transport to polyglutamylated microtubules. Spiliotis ET, Hunt SJ, Hu Q, Kinoshita M, Nelson WJ. J Cell Biol. 2008 Jan 28;180(2):295–303. PubMed Europe PMC Scholia
101. Human lung epithelial cells express a functional cold-sensing TRPM8 variant. Sabnis AS, Shadid M, Yost GS, Reilly CA. Am J Respir Cell Mol Biol. 2008 Oct;39(4):466–74. PubMed Europe PMC Scholia
102. Characterization of recombinant human prolyl 3-hydroxylase isoenzyme 2, an enzyme modifying the basement membrane collagen IV. Tiainen P, Pasanen A, Sormunen R, Myllyharju J. J Biol Chem. 2008 Jul 11;283(28):19432–9. PubMed Europe PMC Scholia
103. A crosstalk between intracellular CXCR7 and CXCR4 involved in rapid CXCL12-triggered integrin activation but not in chemokine-triggered motility of human T lymphocytes and CD34+ cells. Hartmann TN, Grabovsky V, Pasvolsky R, Shulman Z, Buss EC, Spiegel A, et al. J Leukoc Biol. 2008 Oct;84(4):1130–40. PubMed Europe PMC Scholia
104. The configuration of the 17-hydroxy group variably influences the glucuronidation of beta-estradiol and epiestradiol by human UDP-glucuronosyltransferases. Itäaho K, Mackenzie PI, Ikushiro S ichi, Miners JO, Finel M. Drug Metab Dispos. 2008 Nov;36(11):2307–15. PubMed Europe PMC Scholia
105. TMEM16A confers receptor-activated calcium-dependent chloride conductance. Yang YD, Cho H, Koo JY, Tak MH, Cho Y, Shim WS, et al. Nature. 2008 Oct 30;455(7217):1210–5. PubMed Europe PMC Scholia
106. New members of mammalian aquaporins: AQP10-AQP12. Ishibashi K. Handb Exp Pharmacol. 2009;(190):251–62. PubMed Europe PMC Scholia
107. Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria. Haliloglu G, Temucin CM, Oguz KK, Celiker A, Coskun T, Sass JO, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S21-5. PubMed Europe PMC Scholia
108. The PAS-domain kinase PASKIN: a new sensor in energy homeostasis. Schläfli P, Borter E, Spielmann P, Wenger RH. Cell Mol Life Sci. 2009 Mar;66(5):876–83. PubMed Europe PMC Scholia
109. E2-RING expansion of the NEDD8 cascade confers specificity to cullin modification. Huang DT, Ayrault O, Hunt HW, Taherbhoy AM, Duda DM, Scott DC, et al. Mol Cell. 2009 Feb 27;33(4):483–95. PubMed Europe PMC Scholia
110. AMD3100 is a CXCR7 ligand with allosteric agonist properties. Kalatskaya I, Berchiche YA, Gravel S, Limberg BJ, Rosenbaum JS, Heveker N. Mol Pharmacol. 2009 May;75(5):1240–7. PubMed Europe PMC Scholia
111. The structure of Atg4B-LC3 complex reveals the mechanism of LC3 processing and delipidation during autophagy. Satoo K, Noda NN, Kumeta H, Fujioka Y, Mizushima N, Ohsumi Y, et al. EMBO J. 2009 May 6;28(9):1341–50. PubMed Europe PMC Scholia
112. Bone morphogenetic protein-2 activity is regulated by secreted phosphoprotein-24 kd, an extracellular pseudoreceptor, the gene for which maps to a region of the human genome important for bone quality. Brochmann EJ, Behnam K, Murray SS. Metabolism. 2009 May;58(5):644–50. PubMed Europe PMC Scholia
113. CXCR7 heterodimerizes with CXCR4 and regulates CXCL12-mediated G protein signaling. Levoye A, Balabanian K, Baleux F, Bachelerie F, Lagane B. Blood. 2009 Jun 11;113(24):6085–93. PubMed Europe PMC Scholia
114. ADP-ribosylation factor like 7 (ARL7) interacts with alpha-tubulin and modulates intracellular vesicular transport. Wei S mei, Xie C gao, Abe Y, Cai J ting. Biochem Biophys Res Commun. 2009 Jul 3;384(3):352–6. PubMed Europe PMC Scholia
115. Centromere-specific assembly of CENP-a nucleosomes is mediated by HJURP. Foltz DR, Jansen LET, Bailey AO, Yates JR 3rd, Bassett EA, Wood S, et al. Cell. 2009 May 1;137(3):472–84. PubMed Europe PMC Scholia
116. HJURP is a cell-cycle-dependent maintenance and deposition factor of CENP-A at centromeres. Dunleavy EM, Roche D, Tagami H, Lacoste N, Ray-Gallet D, Nakamura Y, et al. Cell. 2009 May 1;137(3):485–97. PubMed Europe PMC Scholia
117. Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, et al. Hum Mutat. 2009 Jun;30(6):910–7. PubMed Europe PMC Scholia
118. RING domain E3 ubiquitin ligases. Deshaies RJ, Joazeiro CAP. Annu Rev Biochem. 2009;78:399–434. PubMed Europe PMC Scholia
119. Arginyl aminopeptidase-like 1 (RNPEPL1) is an alternatively processed aminopeptidase with specificity for methionine, glutamine, and citrulline residues. Thompson MW, Beasley KA, Schmidt MD, Seipelt RL. Protein Pept Lett. 2009;16(10):1256–66. PubMed Europe PMC Scholia
120. Structure and concentration changes affect characterization of UGT isoform-specific metabolism of isoflavones. Tang L, Singh R, Liu Z, Hu M. Mol Pharm. 2009;6(5):1466–82. PubMed Europe PMC Scholia
121. Rab GTPases as coordinators of vesicle traffic. Stenmark H. Nat Rev Mol Cell Biol. 2009 Aug;10(8):513–25. PubMed Europe PMC Scholia
122. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, et al. Am J Hum Genet. 2009 Nov;85(5):628–42. PubMed Europe PMC Scholia
123. Glypican-1 mediates both prion protein lipid raft association and disease isoform formation. Taylor DR, Whitehouse IJ, Hooper NM. PLoS Pathog. 2009 Nov;5(11):e1000666. PubMed Europe PMC Scholia
124. Mtd/Bok takes a swing: proapoptotic Mtd/Bok regulates trophoblast cell proliferation during human placental development and in preeclampsia. Ray JE, Garcia J, Jurisicova A, Caniggia I. Cell Death Differ. 2010 May;17(5):846–59. PubMed Europe PMC Scholia
125. Beta-arrestin- but not G protein-mediated signaling by the “decoy” receptor CXCR7. Rajagopal S, Kim J, Ahn S, Craig S, Lam CM, Gerard NP, et al. Proc Natl Acad Sci U S A. 2010 Jan 12;107(2):628–32. PubMed Europe PMC Scholia
126. Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria. Kranendijk M, Struys EA, Gibson KM, Wickenhagen WV, Abdenur JE, Buechner J, et al. Hum Mutat. 2010 Mar;31(3):279–83. PubMed Europe PMC Scholia
127. CXCR7 functions as a scavenger for CXCL12 and CXCL11. Naumann U, Cameroni E, Pruenster M, Mahabaleshwar H, Raz E, Zerwes HG, et al. PLoS One. 2010 Feb 11;5(2):e9175. PubMed Europe PMC Scholia
128. Reaction mechanism and molecular basis for selenium/sulfur discrimination of selenocysteine lyase. Omi R, Kurokawa S, Mihara H, Hayashi H, Goto M, Miyahara I, et al. J Biol Chem. 2010 Apr 16;285(16):12133–9. PubMed Europe PMC Scholia
129. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR. Mol Med. 2010;16(7–8):247–53. PubMed Europe PMC Scholia
130. The human collagen beta(1-O)galactosyltransferase, GLT25D1, is a soluble endoplasmic reticulum localized protein. Liefhebber JM, Punt S, Spaan WJ, van Leeuwen HC. BMC Cell Biol. 2010 May 14;11:33. PubMed Europe PMC Scholia
131. Regulation of cell death in human fetal and adult ovaries--role of Bok and Bcl-X(L). Jääskeläinen M, Nieminen A, Pökkylä RM, Kauppinen M, Liakka A, Heikinheimo M, et al. Mol Cell Endocrinol. 2010 Dec 15;330(1–2):17–24. PubMed Europe PMC Scholia
132. Integral roles of a guanine nucleotide exchange factor, FARP2, in osteoclast podosome rearrangements. Takegahara N, Kang S, Nojima S, Takamatsu H, Okuno T, Kikutani H, et al. FASEB J. 2010 Dec;24(12):4782–92. PubMed Europe PMC Scholia
133. Synthetic substrates for measuring activity of autophagy proteases: autophagins (Atg4). Shu CW, Drag M, Bekes M, Zhai D, Salvesen GS, Reed JC. Autophagy. 2010 Oct;6(7):936–47. PubMed Europe PMC Scholia
134. NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. Hoefs SJG, van Spronsen FJ, Lenssen EWH, Nijtmans LG, Rodenburg RJ, Smeitink JAM, et al. Eur J Hum Genet. 2011 Mar;19(3):270–4. PubMed Europe PMC Scholia
135. Kinetics comparisons of mammalian Atg4 homologues indicate selective preferences toward diverse Atg8 substrates. Li M, Hou Y, Wang J, Chen X, Shao ZM, Yin XM. J Biol Chem. 2011 Mar 4;286(9):7327–38. PubMed Europe PMC Scholia
136. Per-arnt-sim (PAS) domain-containing protein kinase is downregulated in human islets in type 2 diabetes and regulates glucagon secretion. da Silva Xavier G, Farhan H, Kim H, Caxaria S, Johnson P, Hughes S, et al. Diabetologia. 2011 Apr;54(4):819–27. PubMed Europe PMC Scholia
137. KIF1A is the primary anterograde motor protein required for the axonal transport of dense-core vesicles in cultured hippocampal neurons. Lo KY, Kuzmin A, Unger SM, Petersen JD, Silverman MA. Neurosci Lett. 2011 Mar 24;491(3):168–73. PubMed Europe PMC Scholia
138. The role of the PD-1 pathway in autoimmunity and peripheral tolerance. Fife BT, Pauken KE. Ann N Y Acad Sci. 2011 Jan;1217:45–59. PubMed Europe PMC Scholia
139. Substrate preference and phosphatidylinositol monophosphate inhibition of the catalytic domain of the Per-Arnt-Sim domain kinase PASKIN. Schläfli P, Tröger J, Eckhardt K, Borter E, Spielmann P, Wenger RH. FEBS J. 2011 May;278(10):1757–68. PubMed Europe PMC Scholia
140. Regulation of sialyl Lewis antigen expression in colon cancer cells by sialidase NEU4. Shiozaki K, Yamaguchi K, Takahashi K, Moriya S, Miyagi T. J Biol Chem. 2011 Jun 17;286(24):21052–61. PubMed Europe PMC Scholia
141. MTERF4 regulates translation by targeting the methyltransferase NSUN4 to the mammalian mitochondrial ribosome. Cámara Y, Asin-Cayuela J, Park CB, Metodiev MD, Shi Y, Ruzzenente B, et al. Cell Metab. 2011 May 4;13(5):527–39. PubMed Europe PMC Scholia
142. Suppression of amyloid beta A11 antibody immunoreactivity by vitamin C: possible role of heparan sulfate oligosaccharides derived from glypican-1 by ascorbate-induced, nitric oxide (NO)-catalyzed degradation. Cheng F, Cappai R, Ciccotosto GD, Svensson G, Multhaup G, Fransson LÅ, et al. J Biol Chem. 2011 Aug 5;286(31):27559–72. PubMed Europe PMC Scholia
143. Germ cell intercellular bridges. Greenbaum MP, Iwamori T, Buchold GM, Matzuk MM. Cold Spring Harb Perspect Biol. 2011 Aug 1;3(8):a005850. PubMed Europe PMC Scholia
144. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, Ramaswami G, Otto EA, Noriega TR, et al. Nat Genet. 2011 Jul 3;43(8):776–84. PubMed Europe PMC Scholia
145. ANOs 3-7 in the anoctamin/Tmem16 Cl- channel family are intracellular proteins. Duran C, Qu Z, Osunkoya AO, Cui Y, Hartzell HC. Am J Physiol Cell Physiol. 2012 Feb 1;302(3):C482-93. PubMed Europe PMC Scholia
146. Regulation of activity of transient receptor potential melastatin 8 (TRPM8) channel by its short isoforms. Bidaux G, Beck B, Zholos A, Gordienko D, Lemonnier L, Flourakis M, et al. J Biol Chem. 2012 Jan 27;287(5):2948–62. PubMed Europe PMC Scholia
147. Biochemical discrimination between selenium and sulfur 2: mechanistic investigation of the selenium specificity of human selenocysteine lyase. Johansson AL, Collins R, Arnér ESJ, Brzezinski P, Högbom M. PLoS One. 2012;7(1):e30528. PubMed Europe PMC Scholia
148. Carboxy-terminus of CXCR7 regulates receptor localization and function. Ray P, Mihalko LA, Coggins NL, Moudgil P, Ehrlich A, Luker KE, et al. Int J Biochem Cell Biol. 2012 Apr;44(4):669–78. PubMed Europe PMC Scholia
149. A high-throughput FRET-based assay for determination of Atg4 activity. Li M, Chen X, Ye QZ, Vogt A, Yin XM. Autophagy. 2012 Mar;8(3):401–12. PubMed Europe PMC Scholia
150. ERK2 drives tumour cell migration in three-dimensional microenvironments by suppressing expression of Rab17 and liprin-β2. von Thun A, Birtwistle M, Kalna G, Grindlay J, Strachan D, Kolch W, et al. J Cell Sci. 2012 Mar 15;125(Pt 6):1465–77. PubMed Europe PMC Scholia
151. Serine/threonine protein kinase 25 (STK25): a novel negative regulator of lipid and glucose metabolism in rodent and human skeletal muscle. Nerstedt A, Cansby E, Andersson CX, Laakso M, Stančáková A, Blüher M, et al. Diabetologia. 2012 Jun;55(6):1797–807. PubMed Europe PMC Scholia
152. SH3BP4 is a negative regulator of amino acid-Rag GTPase-mTORC1 signaling. Kim YM, Stone M, Hwang TH, Kim YG, Dunlevy JR, Griffin TJ, et al. Mol Cell. 2012 Jun 29;46(6):833–46. PubMed Europe PMC Scholia
153. Safety, activity, and immune correlates of anti-PD-1 antibody in cancer. Topalian SL, Hodi FS, Brahmer JR, Gettinger SN, Smith DC, McDermott DF, et al. N Engl J Med. 2012 Jun 28;366(26):2443–54. PubMed Europe PMC Scholia
154. MiR-26 controls LXR-dependent cholesterol efflux by targeting ABCA1 and ARL7. Sun D, Zhang J, Xie J, Wei W, Chen M, Zhao X. FEBS Lett. 2012 May 21;586(10):1472–9. PubMed Europe PMC Scholia
155. Structure of the human MTERF4-NSUN4 protein complex that regulates mitochondrial ribosome biogenesis. Spåhr H, Habermann B, Gustafsson CM, Larsson NG, Hallberg BM. Proc Natl Acad Sci U S A. 2012 Sep 18;109(38):15253–8. PubMed Europe PMC Scholia
156. Ragulator is a GEF for the rag GTPases that signal amino acid levels to mTORC1. Bar-Peled L, Schweitzer LD, Zoncu R, Sabatini DM. Cell. 2012 Sep 14;150(6):1196–208. PubMed Europe PMC Scholia
157. Structural conservation of distinctive N-terminal acetylation-dependent interactions across a family of mammalian NEDD8 ligation enzymes. Monda JK, Scott DC, Miller DJ, Lydeard J, King D, Harper JW, et al. Structure. 2013 Jan 8;21(1):42–53. PubMed Europe PMC Scholia
158. Regiospecificity and stereospecificity of human UDP-glucuronosyltransferases in the glucuronidation of estriol, 16-epiestriol, 17-epiestriol, and 13-epiestradiol. Sneitz N, Vahermo M, Mosorin J, Laakkonen L, Poirier D, Finel M. Drug Metab Dispos. 2013 Mar;41(3):582–91. PubMed Europe PMC Scholia
159. Evaluations of the selectivities of the diacylglycerol kinase inhibitors R59022 and R59949 among diacylglycerol kinase isozymes using a new non-radioactive assay method. Sato M, Liu K, Sasaki S, Kunii N, Sakai H, Mizuno H, et al. Pharmacology. 2013;92(1–2):99–107. PubMed Europe PMC Scholia
160. The penetrance of copy number variations for schizophrenia and developmental delay. Kirov G, Rees E, Walters JTR, Escott-Price V, Georgieva L, Richards AL, et al. Biol Psychiatry. 2014 Mar 1;75(5):378–85. PubMed Europe PMC Scholia
161. Exchange of associated factors directs a switch in HBO1 acetyltransferase histone tail specificity. Lalonde ME, Avvakumov N, Glass KC, Joncas FH, Saksouk N, Holliday M, et al. Genes Dev. 2013 Sep 15;27(18):2009–24. PubMed Europe PMC Scholia
162. Placental autophagy regulation by the BOK-MCL1 rheostat. Kalkat M, Garcia J, Ebrahimi J, Melland-Smith M, Todros T, Post M, et al. Autophagy. 2013 Dec;9(12):2140–53. PubMed Europe PMC Scholia
163. Differential regulation of estrogen receptor α expression in breast cancer cells by metastasis-associated protein 1. Kang HJ, Lee MH, Kang HL, Kim SH, Ahn JR, Na H, et al. Cancer Res. 2014 Mar 1;74(5):1484–94. PubMed Europe PMC Scholia
164. Autoregulation of glypican-1 by intronic microRNA-149 fine tunes the angiogenic response to FGF2 in human endothelial cells. Chamorro-Jorganes A, Araldi E, Rotllan N, Cirera-Salinas D, Suárez Y. J Cell Sci. 2014 Mar 15;127(Pt 6):1169–78. PubMed Europe PMC Scholia
165. The actin-binding proteins eps8 and gelsolin have complementary roles in regulating the growth and stability of mechanosensory hair bundles of mammalian cochlear outer hair cells. Olt J, Mburu P, Johnson SL, Parker A, Kuhn S, Bowl M, et al. PLoS One. 2014 Jan 27;9(1):e87331. PubMed Europe PMC Scholia
166. The family-wide structure and function of human dual-specificity protein phosphatases. Jeong DG, Wei CH, Ku B, Jeon TJ, Chien PN, Kim JK, et al. Acta Crystallogr D Biol Crystallogr. 2014 Feb;70(Pt 2):421–35. PubMed Europe PMC Scholia
167. Extracellular matrix signatures of human mammary carcinoma identify novel metastasis promoters. Naba A, Clauser KR, Lamar JM, Carr SA, Hynes RO. Elife. 2014 Mar 11;3:e01308. PubMed Europe PMC Scholia
168. Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome. Sakai Y, Souzaki R, Yamamoto H, Matsushita Y, Nagata H, Ishizaki Y, et al. BMC Med Genomics. 2014 Apr 22;7:19. PubMed Europe PMC Scholia
169. Anti-programmed-death-receptor-1 treatment with pembrolizumab in ipilimumab-refractory advanced melanoma: a randomised dose-comparison cohort of a phase 1 trial. Robert C, Ribas A, Wolchok JD, Hodi FS, Hamid O, Kefford R, et al. Lancet. 2014 Sep 20;384(9948):1109–17. PubMed Europe PMC Scholia
170. The bone matrix protein secreted phosphoprotein 24 kD (Spp24): bone metabolism regulator and starting material for biotherapeutic materials. Murray SS, Wang JC, Duarte MEL, Zhao KW, Tian H, Francis T, et al. Histol Histopathol. 2015 May;30(5):531–7. PubMed Europe PMC Scholia
171. Nivolumab in previously untreated melanoma without BRAF mutation. Robert C, Long GV, Brady B, Dutriaux C, Maio M, Mortier L, et al. N Engl J Med. 2015 Jan 22;372(4):320–30. PubMed Europe PMC Scholia
172. A carboxy terminal BMP/TGF-β binding site in secreted phosphoprotein 24 kD independently affects BMP-2 activity. Tian H, Li CS, Zhao KW, Wang JC, Duarte MEL, David CL, et al. J Cell Biochem. 2015 Apr;116(4):667–76. PubMed Europe PMC Scholia
173. TMEM16 proteins: unknown structure and confusing functions. Picollo A, Malvezzi M, Accardi A. J Mol Biol. 2015 Jan 16;427(1):94–105. PubMed Europe PMC Scholia
174. TRP channel-associated factors are a novel protein family that regulates TRPM8 trafficking and activity. Gkika D, Lemonnier L, Shapovalov G, Gordienko D, Poux C, Bernardini M, et al. J Cell Biol. 2015 Jan 5;208(1):89–107. PubMed Europe PMC Scholia
175. Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. Ylikallio E, Kim D, Isohanni P, Auranen M, Kim E, Lönnqvist T, et al. Eur J Hum Genet. 2015 Oct;23(10):1427–30. PubMed Europe PMC Scholia
176. SEPT12 orchestrates the formation of mammalian sperm annulus by organizing core octameric complexes with other SEPT proteins. Kuo YC, Shen YR, Chen HI, Lin YH, Wang YY, Chen YR, et al. J Cell Sci. 2015 Mar 1;128(5):923–34. PubMed Europe PMC Scholia
177. Biological function and molecular mechanism of Twist2. Chengxiao Z, Ze Y. Yi Chuan. 2015 Jan;37(1):17–24. PubMed Europe PMC Scholia
178. De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. Esmaeeli Nieh S, Madou MRZ, Sirajuddin M, Fregeau B, McKnight D, Lexa K, et al. Ann Clin Transl Neurol. 2015 Jun;2(6):623–35. PubMed Europe PMC Scholia
179. ATG4B (Autophagin-1) phosphorylation modulates autophagy. Yang Z, Wilkie-Grantham RP, Yanagi T, Shu CW, Matsuzawa SI, Reed JC. J Biol Chem. 2015 Oct 30;290(44):26549–61. PubMed Europe PMC Scholia
180. CSNAP Is a Stoichiometric Subunit of the COP9 Signalosome. Rozen S, Füzesi-Levi MG, Ben-Nissan G, Mizrachi L, Gabashvili A, Levin Y, et al. Cell Rep. 2015 Oct 20;13(3):585–98. PubMed Europe PMC Scholia
181. Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization. Bizet AA, Becker-Heck A, Ryan R, Weber K, Filhol E, Krug P, et al. Nat Commun. 2015 Oct 21;6:8666. PubMed Europe PMC Scholia
182. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, et al. PLoS Genet. 2016 Jan 7;12(1):e1005679. PubMed Europe PMC Scholia
183. Associations among Erythroferrone and Biomarkers of Erythropoiesis and Iron Metabolism, and Treatment with Long-Term Erythropoiesis-Stimulating Agents in Patients on Hemodialysis. Honda H, Kobayashi Y, Onuma S, Shibagaki K, Yuza T, Hirao K, et al. PLoS One. 2016 Mar 15;11(3):e0151601. PubMed Europe PMC Scholia
184. A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism. Netter P, Chan SK, Banerjee PP, Monaco-Shawver L, Noroski LM, Hanson IC, et al. J Allergy Clin Immunol. 2016 Aug;138(2):599-601.e3. PubMed Europe PMC Scholia
185. Bok is a genuine multi-BH-domain protein that triggers apoptosis in the absence of Bax and Bak. Einsele-Scholz S, Malmsheimer S, Bertram K, Stehle D, Johänning J, Manz M, et al. J Cell Sci. 2016 Jun 1;129(11):2213–23. PubMed Europe PMC Scholia
186. Regulation of Hepcidin by Erythropoiesis: The Story So Far. Pasricha SR, McHugh K, Drakesmith H. Annu Rev Nutr. 2016 Jul 17;36:417–34. PubMed Europe PMC Scholia
187. Structural basis for blocking PD-1-mediated immune suppression by therapeutic antibody pembrolizumab. Na Z, Yeo SP, Bharath SR, Bowler MW, Balıkçı E, Wang CI, et al. Cell Res. 2017 Jan;27(1):147–50. PubMed Europe PMC Scholia
188. O-GlcNAcylation of ATG4B positively regulates autophagy by increasing its hydroxylase activity. Jo YK, Park NY, Park SJ, Kim BG, Shin JH, Jo DS, et al. Oncotarget. 2016 Aug 30;7(35):57186–96. PubMed Europe PMC Scholia
189. Accessory subunits are integral for assembly and function of human mitochondrial complex I. Stroud DA, Surgenor EE, Formosa LE, Reljic B, Frazier AE, Dibley MG, et al. Nature. 2016 Oct 6;538(7623):123–6. PubMed Europe PMC Scholia
190. ARD1-mediated Hsp70 acetylation balances stress-induced protein refolding and degradation. Seo JH, Park JH, Lee EJ, Vo TTL, Choi H, Kim JY, et al. Nat Commun. 2016 Oct 6;7:12882. PubMed Europe PMC Scholia
191. High-resolution crystal structure of the therapeutic antibody pembrolizumab bound to the human PD-1. Horita S, Nomura Y, Sato Y, Shimamura T, Iwata S, Nomura N. Sci Rep. 2016 Oct 13;6:35297. PubMed Europe PMC Scholia
192. Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects. Kendall KM, Rees E, Escott-Price V, Einon M, Thomas R, Hewitt J, et al. Biol Psychiatry. 2017 Jul 15;82(2):103–10. PubMed Europe PMC Scholia
193. Secreted Phosphoprotein 24 kD Inhibits Growth of Human Prostate Cancer Cells Stimulated by BMP-2. Lao L, Shen J, Tian H, Yao Q, Li Y, Qian L, et al. Anticancer Res. 2016 Nov;36(11):5773–80. PubMed Europe PMC Scholia
194. An unexpected N-terminal loop in PD-1 dominates binding by nivolumab. Tan S, Zhang H, Chai Y, Song H, Tong Z, Wang Q, et al. Nat Commun. 2017 Feb 6;8:14369. PubMed Europe PMC Scholia
195. Deep Sequencing of the Human Retinae Reveals the Expression of Odorant Receptors. Jovancevic N, Wunderlich KA, Haering C, Flegel C, Maßberg D, Weinrich M, et al. Front Cell Neurosci. 2017 Jan 24;11:03. PubMed Europe PMC Scholia
196. ATG4B contains a C-terminal LIR motif important for binding and efficient cleavage of mammalian orthologs of yeast Atg8. Skytte Rasmussen M, Mouilleron S, Kumar Shrestha B, Wirth M, Lee R, Bowitz Larsen K, et al. Autophagy. 2017 May 4;13(5):834–53. PubMed Europe PMC Scholia
197. Autophagy impairment mediated by S-nitrosation of ATG4B leads to neurotoxicity in response to hyperglycemia. Li Y, Zhang Y, Wang L, Wang P, Xue Y, Li X, et al. Autophagy. 2017 Jul 3;13(7):1145–60. PubMed Europe PMC Scholia
198. The extreme C-terminal region of kindlin-2 is critical to its regulation of integrin activation. Hirbawi J, Bialkowska K, Bledzka KM, Liu J, Fukuda K, Qin J, et al. J Biol Chem. 2017 Aug 25;292(34):14258–69. PubMed Europe PMC Scholia
199. A reversible phospho-switch mediated by ULK1 regulates the activity of autophagy protease ATG4B. Pengo N, Agrotis A, Prak K, Jones J, Ketteler R. Nat Commun. 2017 Aug 18;8(1):294. PubMed Europe PMC Scholia
200. PD-1 pathway and its clinical application: A 20year journey after discovery of the complete human PD-1 gene. Berger KN, Pu JJ. Gene. 2018 Jan 5;638:20–5. PubMed Europe PMC Scholia
201. Intersubunit Crosstalk in the Rag GTPase Heterodimer Enables mTORC1 to Respond Rapidly to Amino Acid Availability. Shen K, Choe A, Sabatini DM. Mol Cell. 2017 Nov 2;68(3):552-565.e8. PubMed Europe PMC Scholia
202. Structural and biochemical analysis of atypically low dephosphorylating activity of human dual-specificity phosphatase 28. Ku B, Hong W, Keum CW, Kim M, Ryu H, Jeon D, et al. PLoS One. 2017 Nov 9;12(11):e0187701. PubMed Europe PMC Scholia
203. MST4 Phosphorylation of ATG4B Regulates Autophagic Activity, Tumorigenicity, and Radioresistance in Glioblastoma. Huang T, Kim CK, Alvarez AA, Pangeni RP, Wan X, Song X, et al. Cancer Cell. 2017 Dec 11;32(6):840-855.e8. PubMed Europe PMC Scholia
204. Prolactin-releasing peptide improved leptin hypothalamic signaling in obese mice. Holubová M, Hrubá L, Neprašová B, Majerčíková Z, Lacinová Z, Kuneš J, et al. J Mol Endocrinol. 2018 Feb;60(2):85–94. PubMed Europe PMC Scholia
205. Levels of the erythropoietin-responsive hormone erythroferrone in mice and humans with chronic kidney disease. Hanudel MR, Rappaport M, Chua K, Gabayan V, Qiao B, Jung G, et al. Haematologica. 2018 Apr;103(4):e141–2. PubMed Europe PMC Scholia
206. Delipidation of mammalian Atg8-family proteins by each of the four ATG4 proteases. Kauffman KJ, Yu S, Jin J, Mugo B, Nguyen N, O’Brien A, et al. Autophagy. 2018;14(6):992–1010. PubMed Europe PMC Scholia
207. The neural border: Induction, specification and maturation of the territory that generates neural crest cells. Pla P, Monsoro-Burq AH. Dev Biol. 2018 Dec 1;444 Suppl 1:S36–46. PubMed Europe PMC Scholia
208. Alanine-glyoxylate aminotransferase 1 (AGXT1) is a novel marker for hepatocellular carcinomas. Zhao CL, Hui Y, Wang LJ, Yang D, Yakirevich E, Mangray S, et al. Hum Pathol. 2018 Oct;80:76–81. PubMed Europe PMC Scholia
209. Regulation of KIF1A-Driven Dense Core Vesicle Transport: Ca2+/CaM Controls DCV Binding and Liprin-α/TANC2 Recruits DCVs to Postsynaptic Sites. Stucchi R, Plucińska G, Hummel JJA, Zahavi EE, Guerra San Juan I, Klykov O, et al. Cell Rep. 2018 Jul 17;24(3):685–700. PubMed Europe PMC Scholia
210. A new quinoline-based chemical probe inhibits the autophagy-related cysteine protease ATG4B. Bosc D, Vezenkov L, Bortnik S, An J, Xu J, Choutka C, et al. Sci Rep. 2018 Aug 3;8(1):11653. PubMed Europe PMC Scholia
211. Ragulator and SLC38A9 activate the Rag GTPases through noncanonical GEF mechanisms. Shen K, Sabatini DM. Proc Natl Acad Sci U S A. 2018 Sep 18;115(38):9545–50. PubMed Europe PMC Scholia
212. Identification of Kinases and Phosphatases That Regulate ATG4B Activity by siRNA and Small Molecule Screening in Cells. Pengo N, Prak K, Costa JR, Luft C, Agrotis A, Freeman J, et al. Front Cell Dev Biol. 2018 Nov 1;6:148. PubMed Europe PMC Scholia
213. Insights into product release dynamics through structural analyses of thymidylate kinase. Chaudhary SK, Iyyappan Y, Elayappan M, Jeyakanthan J, Sekar K. Int J Biol Macromol. 2019 Feb 15;123:637–47. PubMed Europe PMC Scholia
214. Protein Phosphatase 1 Regulatory Subunit SDS22 Inhibits Breast Cancer Cell Tumorigenesis by Functioning as a Negative Regulator of the AKT Signaling Pathway. Paul D, Bargale AB, Rapole S, Shetty PK, Santra MK. Neoplasia. 2019 Jan;21(1):30–40. PubMed Europe PMC Scholia
215. Human nitrobindin: the first example of an all-β-barrel ferric heme-protein that catalyzes peroxynitrite detoxification. De Simone G, di Masi A, Polticelli F, Ascenzi P. FEBS Open Bio. 2018 Nov 9;8(12):2002–10. PubMed Europe PMC Scholia
216. Redundancy of human ATG4 protease isoforms in autophagy and LC3/GABARAP processing revealed in cells. Agrotis A, Pengo N, Burden JJ, Ketteler R. Autophagy. 2019 Jun;15(6):976–97. PubMed Europe PMC Scholia
217. Human ATG4 autophagy proteases counteract attachment of ubiquitin-like LC3/GABARAP proteins to other cellular proteins. Agrotis A, von Chamier L, Oliver H, Kiso K, Singh T, Ketteler R. J Biol Chem. 2019 Aug 23;294(34):12610–21. PubMed Europe PMC Scholia
218. Regulation of active and quiescent somatic stem cells by Notch signaling. Sueda R, Kageyama R. Dev Growth Differ. 2020 Jan;62(1):59–66. PubMed Europe PMC Scholia
219. Systems analysis of RhoGEF and RhoGAP regulatory proteins reveals spatially organized RAC1 signalling from integrin adhesions. Müller PM, Rademacher J, Bagshaw RD, Wortmann C, Barth C, van Unen J, et al. Nat Cell Biol. 2020 Apr;22(4):498–511. PubMed Europe PMC Scholia
220. Mycobacterial and Human Nitrobindins: Structure and Function. De Simone G, di Masi A, Vita GM, Polticelli F, Pesce A, Nardini M, et al. Antioxid Redox Signal. 2020 Aug 1;33(4):229–46. PubMed Europe PMC Scholia
221. Modular and Distinct Plexin-A4/FARP2/Rac1 Signaling Controls Dendrite Morphogenesis. Danelon V, Goldner R, Martinez E, Gokhman I, Wang K, Yaron A, et al. J Neurosci. 2020 Jul 8;40(28):5413–30. PubMed Europe PMC Scholia
222. Immunocytochemical Localization of Olfactory-signaling Molecules in Human and Rat Spermatozoa. Makeyeva Y, Nicol C, Ledger WL, Ryugo DK. J Histochem Cytochem. 2020 Jul;68(7):491–513. PubMed Europe PMC Scholia
223. Distinct Mechanisms for Processing Autophagy Protein LC3-PE by RavZ and ATG4B. Yang A, Pantoom S, Wu YW. Chembiochem. 2020 Dec 1;21(23):3377–82. PubMed Europe PMC Scholia
224. Structure, substrate specificity, and catalytic mechanism of human D-2-HGDH and insights into pathogenicity of disease-associated mutations. Yang J, Zhu H, Zhang T, Ding J. Cell Discov. 2021 Jan 12;7(1):3. PubMed Europe PMC Scholia
225. SH3BP4 promotes neuropilin-1 and α5-integrin endocytosis and is inhibited by Akt. Burckhardt CJ, Minna JD, Danuser G. Dev Cell. 2021 Apr 19;56(8):1164-1181.e12. PubMed Europe PMC Scholia
226. ATG4 family proteins drive phagophore growth independently of the LC3/GABARAP lipidation system. Nguyen TN, Padman BS, Zellner S, Khuu G, Uoselis L, Lam WK, et al. Mol Cell. 2021 May 6;81(9):2013-2030.e9. PubMed Europe PMC Scholia
227. The role of mammalian superaquaporins inside the cell: An update. Ishibashi K, Tanaka Y, Morishita Y. Biochim Biophys Acta Biomembr. 2021 Jul 1;1863(7):183617. PubMed Europe PMC Scholia
228. Non-canonical autophagy drives alternative ATG8 conjugation to phosphatidylserine. Durgan J, Lystad AH, Sloan K, Carlsson SR, Wilson MI, Marcassa E, et al. Mol Cell. 2021 May 6;81(9):2031-2040.e8. PubMed Europe PMC Scholia
229. ANO7: Insights into topology, function, and potential applications as a biomarker and immunotherapy target. Guo J, Wang D, Dong Y, Gao X, Tong H, Liu W, et al. Tissue Cell. 2021 Oct;72:101546. PubMed Europe PMC Scholia
230. Specific KIF1A-adaptor interactions control selective cargo recognition. Hummel JJA, Hoogenraad CC. J Cell Biol. 2021 Oct 4;220(10):e202105011. PubMed Europe PMC Scholia