Smith-Magenis and Potocki-Lupski syndrome copy number variation (WP5381)
Homo sapiens
The Smith-Magenis syndrome, is the result from a deletion of chr17:chr17:16,82-18,28, while the Potocki-Lupski syndrome is the result of a duplication of this area.
Authors
Ninagerrekens , Egon Willighagen , Aishwarya Iyer , Friederike Ehrhart , Kristina Hanspers , Lars Willighagen , and Eric WeitzActivity
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Organisms
Homo sapiensCommunities
Annotations
Pathway Ontology
disease pathwayDisease Ontology
Potocki-Lupski syndrome Smith-Magenis syndromeLabel | Type | Compact URI | Comment |
---|---|---|---|
Thymine | Metabolite | chebi:17821 | |
PDME | Metabolite | chebi:64572 | |
phosphatidate | Metabolite | chebi:57739 | |
PE | Metabolite | chebi:16038 | |
Uracil | Metabolite | chebi:17568 | |
cardiolipin | Metabolite | chebi:28494 | |
diacylglycerol | Metabolite | chebi:85694 | |
ROS | Metabolite | chebi:26523 | |
mRNA | Metabolite | chebi:33699 | |
cortisol | Metabolite | chebi:17650 | |
Zinc 2+ | Metabolite | chebi:29105 | |
one-carbon compound | Metabolite | chebi:64708 | |
L-serine | Metabolite | chebi:33384 | |
melatonin | Metabolite | chebi:16796 | |
glycine | Metabolite | chebi:57305 | |
Magnesium 2+ | Metabolite | chebi:18420 | |
pyridoxal 5'-phosphate(2-) | Metabolite | chebi:597326 | cofactor |
mRNA | Metabolite | chebi:33699 | demethylation of N6-methyladenosine (m6A) |
PMME | Metabolite | chebi:64573 | |
phosphatidylcholine | Metabolite | chebi:64482 | |
LRRC48 | GeneProduct | ensembl:ENSG00000171962 | |
MPRIP | GeneProduct | ensembl:ENSG00000133030 | KIAA0864, M-RIP, MRIP, RHOIP3, RIP3, p116Rip are other names for MPRIP |
PEMT | GeneProduct | ensembl:ENSG00000133027 | |
NT5M | GeneProduct | ensembl:ENSG00000205309 | |
TNFRSF13B | GeneProduct | ensembl:ENSG00000240505 | CD267, CVID, CVID2, RYZN, TACI, TNFRSF14B are synonyms expressed on CD27+ B memory cells receptor for TNFSF 13 and BAFF |
COPS3 | GeneProduct | ensembl:ENSG00000141030 | |
ATPAF2 | GeneProduct | ensembl:ENSG00000171953 | |
RAI1 | GeneProduct | ensembl:ENSG00000108557 | |
GID4 | GeneProduct | ensembl:ENSG00000141034 | |
ALKBH5 | GeneProduct | ensembl:ENSG00000091542 | |
DRG2 | GeneProduct | ensembl:ENSG00000108591 | |
MIEF2 | GeneProduct | ensembl:ENSG00000177427 | outer mitochondrial membrane |
TOP3A | GeneProduct | ensembl:ENSG00000177302 | |
FLII | GeneProduct | ensembl:ENSG00000177731 | |
RASD1 | GeneProduct | ensembl:ENSG00000108551 | |
TOM1L2 | GeneProduct | ensembl:ENSG00000175662 | |
FLCN | GeneProduct | ensembl:ENSG00000154803 | |
MYO15A | GeneProduct | ensembl:ENSG00000091536 | expressed in hair cells of the inner ear |
SREBF1 | GeneProduct | ensembl:ENSG00000072310 | |
MED9 | GeneProduct | ensembl:ENSG00000141026 | |
LLGL1 | GeneProduct | ensembl:ENSG00000131899 | |
SHMT1 | GeneProduct | ensembl:ENSG00000176974 | |
SMCR8 | GeneProduct | ensembl:ENSG00000176994 | |
Y RNA | GeneProduct | ensembl:ENSG00000201378 | misc RNA |
MIR33B | GeneProduct | ensembl:ENSG00000207839 | MiRNA |
SMCR5 | GeneProduct | ensembl:ENSG00000226746 | antisense |
SMCR2 | GeneProduct | ensembl:ENSG00000223979 | LincRNA |
RP11-45M22.4 | GeneProduct | ensembl:ENSG00000264187 | |
PLD6 | GeneProduct | ensembl:ENSG00000179598 | ZUC and MitoPLD are different names for PLD6 |
TNFRSF13B | GeneProduct | ensembl:ENSG00000240505 | CD267, CVID, CVID2, RYZN, TACI, TNFRSF14B are synonymsexpressed on CD27+ B memory cellsreceptor for TNFSF 13 and BAFF |
IRF8 | Protein | uniprot:Q02556 | |
ITPK1 | Protein | uniprot:Q13572 | |
JUN | Protein | uniprot:P05412 | |
TFE3 | Protein | uniprot:P19532 | |
TFEB | Protein | uniprot:P19484 | |
PTEN | Protein | uniprot:P60484 | |
CRY1 | Protein | ncbigene:1407 | |
CREB1 | Protein | ensembl:ENSG00000118260 | |
STAT3 | Protein | uniprot:P40763 | |
lipin family | Protein | interpro:IPR026058 | |
LDHA | Protein | uniprot:P00338 | |
PRKAA1 | Protein | uniprot:Q13131 | |
UBP8 | Protein | uniprot:P40818 | |
FHOD1 | Protein | uniprot:Q9Y613 | |
AP-1 family | Protein | uniprot:IPR000837 | |
MLST8 | Protein | uniprot:Q9BVC4 | |
RRAGA | Protein | uniprot:Q7L523 | |
APP | Protein | uniprot:P05067 | |
FE65 | Protein | uniprot:O00213 | |
YAP1 | Protein | uniprot:P46937 | |
MIGA1 | Protein | uniprot:Q8NAN2 | |
MYC | Protein | uniprot:P01106 | |
TP53 | Protein | uniprot:P04637 | |
CARM1 | Protein | uniprot:Q86X55 | |
MAEA | Protein | uniprot:Q7L5Y9 | |
DRC1 | Protein | uniprot:Q96MC2 | |
PRKN | Protein | uniprot:O60260 | |
C9ORF72 | Protein | uniprot:Q96LT7 | |
NR1H3 | Protein | uniprot:Q13133 | |
TLR4 | Protein | uniprot:O00206 | |
RAB8A | Protein | uniprot:P61006 | |
RNF41 | Protein | uniprot:Q9H4P4 | |
NFKB1 | Protein | uniprot:P19838 | |
IFT81 | Protein | uniprot:Q8WYA0 | |
PCK1 | Protein | uniprot:P35558 | |
NR1H2 | Protein | uniprot:P55055 | |
TOLLIP | Protein | uniprot:Q9H0E2 | |
WDR41 | Protein | uniprot:Q9HAD4 | |
RO60 | Protein | ensembl:P10155 | |
MYH2 | Protein | uniprot:Q9UKX2 | |
CLTC | Protein | uniprot:Q00610 | |
TNF | Protein | uniprot:P01375 | |
GRIP1 | Protein | uniprot:Q9Y3R0 | |
PARD6B | Protein | uniprot:Q9BYG5 | |
CLTA | Protein | uniprot:P09496 | |
SREB2 | Protein | uniprot:P60893 | |
HBP1 | Protein | uniprot:O60381 | |
MYO16 | Protein | uniprot:Q9Y6X6 | |
ARG2 | Protein | uniprot:P78540 | |
SMCR8 | Protein | uniprot:Q8TEV9 | |
DRP1 | Protein | uniprot:O43583 | |
GDI2 | Protein | uniprot:P50395 | |
FOXA1 | Protein | uniprot:P55317 | |
FNIP2 | Protein | uniprot:Q9P278 | |
MAP3K14 | Protein | uniprot:Q99558 | NIK is short for NF-κB-inducing kinase |
MYPT1 | Protein | uniprot:O14974 | |
BAFF | Protein | uniprot:Q8JHJ4 | Blys is a synonym |
PRDM1 | Protein | uniprot:O75626 | |
BAX | Protein | uniprot:Q07812 | |
CLEC16A | Protein | uniprot:Q2KHT3 | |
CFL2 | Protein | uniprot:Q9Y281 | |
CRY1 | Protein | uniprot:Q16526 | |
BCL2L11 | Protein | uniprot:O43521 | also known as BCL2L11 |
CRY2 | Protein | uniprot:Q49AN0 | |
PER1 | Protein | uniprot:O15534 | |
CRY2 | Protein | ncbigene:1408 | |
PER1 | Protein | ncbigene:5187 | |
ROCK1 | Protein | uniprot:Q13464 | |
LIMK1 | Protein | uniprot:P53667 | |
BML | Protein | uniprot:P54132 | |
TNFSF13 | Protein | uniprot:O75888 | APRIL is a synonym of TNFSF13 |
RMI2 | Protein | uniprot:Q96E14 | |
RMI1 | Protein | uniprot:Q9H9A7 | |
TOP3A | Protein | uniprot:Q13472 | |
BMAL1 | Protein | uniprot:O00327 | |
RhoA | Protein | uniprot:P61586 | |
CDK1 | Protein | uniprot:P06493 | |
BIRC2 | Protein | uniprot:E9PI77 | cIAP-1 is a synonym for BIRC2 |
BCL6 | Protein | uniprot:A0A0C4DH53 | |
CLOCK | Protein | uniprot:O15516 | |
RAB39B | Protein | uniprot:Q96DA2 | |
ULK1 | Protein | uniprot:O75385 | |
RB1CC1 | Protein | uniprot:Q8TDY2 | FIP200 |
ATG13 | Protein | uniprot:O75143 | |
ATG101 | Protein | uniprot:Q9BSB4 | |
RPTOR | Protein | uniprot:Q8N122 | |
MTOR | Protein | uniprot:P42345 | |
MYD88 | Protein | uniprot:Q99836 | |
RELA | Protein | uniprot:Q04206 | |
IL1B | Protein | uniprot:P01584 | proinflammatory cytokine |
PRKCI | Protein | uniprot:P41743 | |
PARD3 | Protein | uniprot:Q8TEW0 | |
RAB10 | Protein | uniprot:P61026 | |
DRC3 | Protein | uniprot:Q9H069 | Is protein of LRRC48 |
CCDC65 | Protein | uniprot:Q8IXS2 | |
GAS8 | Protein | uniprot:O95995 | |
TCTE1 | Protein | uniprot:Q5JU00 | |
FBXL13 | Protein | uniprot:Q8NEE6 | |
DRC7 | Protein | uniprot:Q8IY82 | |
EFCAB2 | Protein | uniprot:Q5VUJ9 | |
IQCG | Protein | uniprot:Q9H095 | |
IQCD | Protein | uniprot:Q96DY2 | |
IQCA1 | Protein | uniprot:Q86XH1 | |
IFT74 | Protein | uniprot:Q96LB3 | |
IFT22 | Protein | uniprot:Q9H7X7 | |
TTC26 | Protein | uniprot:A0AVF1 | |
IFT46 | Protein | uniprot:Q9NQC8 | |
IFT52 | Protein | uniprot:Q9Y366 | |
IFT172 | Protein | uniprot:Q9UG01 | |
IFT80 | Protein | uniprot:Q9P2H3 | |
IFT88 | Protein | uniprot:Q13099 | |
TTC30B | Protein | uniprot:Q8N4P2 | |
IFT57 | Protein | uniprot:Q9NWB7 | |
CLUAP1 | Protein | uniprot:Q96AJ1 | |
IFT20 | Protein | uniprot:Q8IY31 | |
IFT27 | Protein | uniprot:Q9BW83 | |
IFT25 | Protein | uniprot:Q9Y547 | |
TRAF3IP1 | Protein | uniprot:Q8TDR0 | |
TOM1L2 | Protein | uniprot:Q6ZVM7 | |
CLTA | Protein | uniprot:P09496 | Clathrin a |
CLTB | Protein | uniprot:P09497 | Clathrin a |
G6PC1 | Protein | uniprot:P35575 | |
FOXA2 | Protein | uniprot:Q9Y261 | |
HES6 | Protein | uniprot:Q96HZ4 | |
FERD3L | Protein | uniprot:Q96RJ6 | |
MKLN1 | Protein | uniprot:Q9UL63 | |
ARMC8 | Protein | uniprot:Q8IUR7 | |
WDR26 | Protein | uniprot:Q9H7D7 | |
RMND5A | Protein | uniprot:Q9H871 | |
RANBP9 | Protein | uniprot:Q96S59 | |
GID4 | Protein | uniprot:Q8IVV7 | |
MIGA2 | Protein | uniprot:Q7L4E1 | |
PRKAG2 | Protein | uniprot:Q9UGJ0 | |
PRKAB1 | Protein | uniprot:Q9Y478 | |
WWTR1 | Protein | uniprot:Q9GZV5 | |
ETV5 | Protein | uniprot:P41161 | |
PPP1R14A | Protein | uniprot:Q96A00 | |
FNIP1 | Protein | uniprot:Q8TF40 | |
COPS7A | Protein | uniprot:Q9UBW8 | |
COPS5 | Protein | uniprot:Q92905 | |
COPS6 | Protein | uniprot:Q7L5N1 | |
COPS8 | Protein | uniprot:Q99627 | |
COPS3 | Protein | uniprot:Q9UNS2 | |
COPS2 | Protein | uniprot:P61201 | |
COPS4 | Protein | uniprot:Q9BT78 | |
GPS1 | Protein | uniprot:Q13098 | |
CREB | Protein | ensembl:ENSG00000118260 |
References
- Temporal relationship between melatonin and cortisol responses to nighttime physical stress in humans. Monteleone P, Fuschino A, Nolfe G, Maj M. Psychoneuroendocrinology. 1992;17(1):81–6. PubMed Europe PMC Scholia
- Cloning of human cDNAs encoding mitochondrial and cytosolic serine hydroxymethyltransferases and chromosomal localization. Garrow TA, Brenner AA, Whitehead VM, Chen XN, Duncan RG, Korenberg JR, et al. J Biol Chem. 1993 Jun 5;268(16):11910–6. PubMed Europe PMC Scholia
- A deoxyribonucleotidase in mitochondria: involvement in regulation of dNTP pools and possible link to genetic disease. Rampazzo C, Gallinaro L, Milanesi E, Frigimelica E, Reichard P, Bianchi V. Proc Natl Acad Sci U S A. 2000 Jul 18;97(15):8239–44. PubMed Europe PMC Scholia
- APRIL and TALL-I and receptors BCMA and TACI: system for regulating humoral immunity. Yu G, Boone T, Delaney J, Hawkins N, Kelley M, Ramakrishnan M, et al. Nat Immunol. 2000 Sep;1(3):252–6. PubMed Europe PMC Scholia
- Signaling pathways mediated by tumor necrosis factor alpha. Leong KG, Karsan A. Histol Histopathol. 2000 Oct;15(4):1303–25. PubMed Europe PMC Scholia
- 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
- Identification of liver X receptor-retinoid X receptor as an activator of the sterol regulatory element-binding protein 1c gene promoter. Yoshikawa T, Shimano H, Amemiya-Kudo M, Yahagi N, Hasty AH, Matsuzaka T, et al. Mol Cell Biol. 2001 May;21(9):2991–3000. PubMed Europe PMC Scholia
- Induction of BIM, a proapoptotic BH3-only BCL-2 family member, is critical for neuronal apoptosis. Putcha GV, Moulder KL, Golden JP, Bouillet P, Adams JA, Strasser A, et al. Neuron. 2001 Mar;29(3):615–28. PubMed Europe PMC Scholia
- 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
- Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria. Wang ZG, White PS, Ackerman SH. J Biol Chem. 2001 Aug 17;276(33):30773–8. PubMed Europe PMC Scholia
- Membrane topography of human phosphatidylethanolamine N-methyltransferase. Shields DJ, Lehner R, Agellon LB, Vance DE. J Biol Chem. 2003 Jan 31;278(5):2956–62. PubMed Europe PMC Scholia
- Identification of a functionally impaired positive regulatory domain I binding factor 1 transcription repressor in myeloma cell lines. Györy I, Fejér G, Ghosh N, Seto E, Wright KL. J Immunol. 2003 Mar 15;170(6):3125–33. PubMed Europe PMC Scholia
- Mammalian Lgl forms a protein complex with PAR-6 and aPKC independently of PAR-3 to regulate epithelial cell polarity. Yamanaka T, Horikoshi Y, Sugiyama Y, Ishiyama C, Suzuki A, Hirose T, et al. Curr Biol. 2003 Apr 29;13(9):734–43. PubMed Europe PMC Scholia
- p116Rip decreases myosin II phosphorylation by activating myosin light chain phosphatase and by inactivating RhoA. Koga Y, Ikebe M. J Biol Chem. 2005 Feb 11;280(6):4983–91. PubMed Europe PMC Scholia
- RING finger ubiquitin-protein isopeptide ligase Nrdp1/FLRF regulates parkin stability and activity. Zhong L, Tan Y, Zhou A, Yu Q, Zhou J. J Biol Chem. 2005 Mar 11;280(10):9425–30. PubMed Europe PMC Scholia
- Reduced expression of Hugl-1, the human homologue of Drosophila tumour suppressor gene lgl, contributes to progression of colorectal cancer. Schimanski CC, Schmitz G, Kashyap A, Bosserhoff AK, Bataille F, Schäfer SC, et al. Oncogene. 2005 Apr 28;24(19):3100–9. PubMed Europe PMC Scholia
- Localization-independent regulation of homocysteine secretion by phosphatidylethanolamine N-methyltransferase. Shields DJ, Lingrell S, Agellon LB, Brosnan JT, Vance DE. J Biol Chem. 2005 Jul 22;280(29):27339–44. PubMed Europe PMC Scholia
- Recruitment of clathrin onto endosomes by the Tom1-Tollip complex. Katoh Y, Imakagura H, Futatsumori M, Nakayama K. Biochem Biophys Res Commun. 2006 Mar 3;341(1):143–9. PubMed Europe PMC Scholia
- Flightless I homolog negatively modulates the TLR pathway. Wang T, Chuang TH, Ronni T, Gu S, Du YC, Cai H, et al. J Immunol. 2006 Feb 1;176(3):1355–62. PubMed Europe PMC Scholia
- The cellular functions of clathrin. Royle SJ. Cell Mol Life Sci. 2006 Aug;63(16):1823–32. PubMed Europe PMC Scholia
- Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Baba M, Hong SB, Sharma N, Warren MB, Nickerson ML, Iwamatsu A, et al. Proc Natl Acad Sci U S A. 2006 Oct 17;103(42):15552–7. PubMed Europe PMC Scholia
- A common lipid links Mfn-mediated mitochondrial fusion and SNARE-regulated exocytosis. Choi SY, Huang P, Jenkins GM, Chan DC, Schiller J, Frohman MA. Nat Cell Biol. 2006 Nov;8(11):1255–62. PubMed Europe PMC Scholia
- Regulation and functions of Blimp-1 in T and B lymphocytes. Martins G, Calame K. Annu Rev Immunol. 2008;26:133–69. PubMed Europe PMC Scholia
- Parkin is ubiquitinated by Nrdp1 and abrogates Nrdp1-induced oxidative stress. Yu F, Zhou J. Neurosci Lett. 2008 Jul 25;440(1):4–8. PubMed Europe PMC Scholia
- Dexras1 interacts with FE65 to regulate FE65-amyloid precursor protein-dependent transcription. Lau KF, Chan WM, Perkinton MS, Tudor EL, Chang RCC, Chan HYE, et al. J Biol Chem. 2008 Dec 12;283(50):34728–37. PubMed Europe PMC Scholia
- The BLyS family: toward a molecular understanding of B cell homeostasis. Treml JF, Hao Y, Stadanlick JE, Cancro MP. Cell Biochem Biophys. 2009;53(1):1–16. PubMed Europe PMC Scholia
- Saccharomyces cerevisiae Med9 comprises two functionally distinct domains that play different roles in transcriptional regulation. Takahashi H, Kasahara K, Kokubo T. Genes Cells. 2009 Jan;14(1):53–67. PubMed Europe PMC Scholia
- Role of interleukin-1beta during pain and inflammation. Ren K, Torres R. Brain Res Rev. 2009 Apr;60(1):57–64. PubMed Europe PMC Scholia
- Ragulator-Rag complex targets mTORC1 to the lysosomal surface and is necessary for its activation by amino acids. Sancak Y, Bar-Peled L, Zoncu R, Markhard AL, Nada S, Sabatini DM. Cell. 2010 Apr 16;141(2):290–303. PubMed Europe PMC Scholia
- Network organization of the human autophagy system. Behrends C, Sowa ME, Gygi SP, Harper JW. Nature. 2010 Jul 1;466(7302):68–76. PubMed Europe PMC Scholia
- MITOPLD is a mitochondrial protein essential for nuage formation and piRNA biogenesis in the mouse germline. Watanabe T, Chuma S, Yamamoto Y, Kuramochi-Miyagawa S, Totoki Y, Toyoda A, et al. Dev Cell. 2011 Mar 15;20(3):364–75. PubMed Europe PMC Scholia
- piRNA-associated germline nuage formation and spermatogenesis require MitoPLD profusogenic mitochondrial-surface lipid signaling. Huang H, Gao Q, Peng X, Choi SY, Sarma K, Ren H, et al. Dev Cell. 2011 Mar 15;20(3):376–87. PubMed Europe PMC Scholia
- TFEB links autophagy to lysosomal biogenesis. Settembre C, Di Malta C, Polito VA, Garcia Arencibia M, Vetrini F, Erdin S, et al. Science. 2011 Jun 17;332(6036):1429–33. PubMed Europe PMC Scholia
- Lgl1 activation of rab10 promotes axonal membrane trafficking underlying neuronal polarization. Wang T, Liu Y, Xu XH, Deng CY, Wu KY, Zhu J, et al. Dev Cell. 2011 Sep 13;21(3):431–44. PubMed Europe PMC Scholia
- Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity. Williams SR, Zies D, Mullegama SV, Grotewiel MS, Elsea SH. Am J Hum Genet. 2012 Jun 8;90(6):941–9. PubMed Europe PMC Scholia
- ALKBH5 is a mammalian RNA demethylase that impacts RNA metabolism and mouse fertility. Zheng G, Dahl JA, Niu Y, Fedorcsak P, Huang CM, Li CJ, et al. Mol Cell. 2013 Jan 10;49(1):18–29. PubMed Europe PMC Scholia
- Targeting the BLyS-APRIL signaling pathway in SLE. La Cava A. Clin Immunol. 2013 Sep;148(3):322–7. PubMed Europe PMC Scholia
- The BLM dissolvasome in DNA replication and repair. Manthei KA, Keck JL. Cell Mol Life Sci. 2013 Nov;70(21):4067–84. PubMed Europe PMC Scholia
- Myosin VI and its cargo adaptors - linking endocytosis and autophagy. Tumbarello DA, Kendrick-Jones J, Buss F. J Cell Sci. 2013 Jun 15;126(Pt 12):2561–70. PubMed Europe PMC Scholia
- Adaptor proteins MiD49 and MiD51 can act independently of Mff and Fis1 in Drp1 recruitment and are specific for mitochondrial fission. Palmer CS, Elgass KD, Parton RG, Osellame LD, Stojanovski D, Ryan MT. J Biol Chem. 2013 Sep 20;288(38):27584–93. PubMed Europe PMC Scholia
- Recruitment of folliculin to lysosomes supports the amino acid-dependent activation of Rag GTPases. Petit CS, Roczniak-Ferguson A, Ferguson SM. J Cell Biol. 2013 Sep 30;202(7):1107–22. PubMed Europe PMC Scholia
- Structure of human RNA N⁶-methyladenine demethylase ALKBH5 provides insights into its mechanisms of nucleic acid recognition and demethylation. Aik W, Scotti JS, Choi H, Gong L, Demetriades M, Schofield CJ, et al. Nucleic Acids Res. 2014 Apr;42(7):4741–54. PubMed Europe PMC Scholia
- Phosphatidic acid (PA)-preferring phospholipase A1 regulates mitochondrial dynamics. Baba T, Kashiwagi Y, Arimitsu N, Kogure T, Edo A, Maruyama T, et al. J Biol Chem. 2014 Apr 18;289(16):11497–511. PubMed Europe PMC Scholia
- Crystal structures of the human RNA demethylase Alkbh5 reveal basis for substrate recognition. Feng C, Liu Y, Wang G, Deng Z, Zhang Q, Wu W, et al. J Biol Chem. 2014 Apr 25;289(17):11571–83. PubMed Europe PMC Scholia
- Distinct biochemical properties of human serine hydroxymethyltransferase compared with the Plasmodium enzyme: implications for selective inhibition. Pinthong C, Maenpuen S, Amornwatcharapong W, Yuthavong Y, Leartsakulpanich U, Chaiyen P. FEBS J. 2014 Jun;281(11):2570–83. PubMed Europe PMC Scholia
- Structures of human ALKBH5 demethylase reveal a unique binding mode for specific single-stranded N6-methyladenosine RNA demethylation. Xu C, Liu K, Tempel W, Demetriades M, Aik W, Schofield CJ, et al. J Biol Chem. 2014 Jun 20;289(25):17299–311. PubMed Europe PMC Scholia
- The diabetes susceptibility gene Clec16a regulates mitophagy. Soleimanpour SA, Gupta A, Bakay M, Ferrari AM, Groff DN, Fadista J, et al. Cell. 2014 Jun 19;157(7):1577–90. PubMed Europe PMC Scholia
- Amyloid precursor protein dimerization and synaptogenic function depend on copper binding to the growth factor-like domain. Baumkötter F, Schmidt N, Vargas C, Schilling S, Weber R, Wagner K, et al. J Neurosci. 2014 Aug 13;34(33):11159–72. PubMed Europe PMC Scholia
- FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation. Dunlop EA, Seifan S, Claessens T, Behrends C, Kamps MA, Rozycka E, et al. Autophagy. 2014 Oct 1;10(10):1749–60. PubMed Europe PMC Scholia
- The mammalian circadian clock protein period counteracts cryptochrome in phosphorylation dynamics of circadian locomotor output cycles kaput (CLOCK). Matsumura R, Tsuchiya Y, Tokuda I, Matsuo T, Sato M, Node K, et al. J Biol Chem. 2014 Nov 14;289(46):32064–72. PubMed Europe PMC Scholia
- Detailed structural and biochemical characterization of the nexin-dynein regulatory complex. Oda T, Yanagisawa H, Kikkawa M. Mol Biol Cell. 2015 Jan 15;26(2):294–304. PubMed Europe PMC Scholia
- Folliculin-interacting proteins Fnip1 and Fnip2 play critical roles in kidney tumor suppression in cooperation with Flcn. Hasumi H, Baba M, Hasumi Y, Lang M, Huang Y, Oh HF, et al. Proc Natl Acad Sci U S A. 2015 Mar 31;112(13):E1624-31. PubMed Europe PMC Scholia
- Effect of TACI signaling on humoral immunity and autoimmune diseases. Zhang Y, Li J, Zhang YM, Zhang XM, Tao J. J Immunol Res. 2015;2015:247426. PubMed Europe PMC Scholia
- Functional roles of non-coding Y RNAs. Kowalski MP, Krude T. Int J Biochem Cell Biol. 2015 Sep;66:20–9. PubMed Europe PMC Scholia
- The Function of Rho-Associated Kinases ROCK1 and ROCK2 in the Pathogenesis of Cardiovascular Disease. Hartmann S, Ridley AJ, Lutz S. Front Pharmacol. 2015 Nov 20;6:276. PubMed Europe PMC Scholia
- A MYC-Driven Change in Mitochondrial Dynamics Limits YAP/TAZ Function in Mammary Epithelial Cells and Breast Cancer. von Eyss B, Jaenicke LA, Kortlever RM, Royla N, Wiese KE, Letschert S, et al. Cancer Cell. 2015 Dec 14;28(6):743–57. PubMed Europe PMC Scholia
- Mitoguardin Regulates Mitochondrial Fusion through MitoPLD and Is Required for Neuronal Homeostasis. Zhang Y, Liu X, Bai J, Tian X, Zhao X, Liu W, et al. Mol Cell. 2016 Jan 7;61(1):111–24. PubMed Europe PMC Scholia
- Rasd1, a small G protein with a big role in the hypothalamic response to neuronal activation. Greenwood MP, Greenwood M, Mecawi AS, Antunes-Rodrigues J, Paton JFR, Murphy D. Mol Brain. 2016 Jan 7;9:1. PubMed Europe PMC Scholia
- Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death. Sellier C, Campanari ML, Julie Corbier C, Gaucherot A, Kolb-Cheynel I, Oulad-Abdelghani M, et al. EMBO J. 2016 Jun 15;35(12):1276–97. PubMed Europe PMC Scholia
- The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway. Sullivan PM, Zhou X, Robins AM, Paushter DH, Kim D, Smolka MB, et al. Acta Neuropathol Commun. 2016 May 18;4(1):51. PubMed Europe PMC Scholia
- Melatonin Signal Transduction Pathways Require E-Box-Mediated Transcription of Per1 and Per2 to Reset the SCN Clock at Dusk. Kandalepas PC, Mitchell JW, Gillette MU. PLoS One. 2016 Jun 30;11(6):e0157824. PubMed Europe PMC Scholia
- CREB-mediated synaptogenesis and neurogenesis is crucial for the role of 5-HT1a receptors in modulating anxiety behaviors. Zhang J, Cai CY, Wu HY, Zhu LJ, Luo CX, Zhu DY. Sci Rep. 2016 Jul 12;6:29551. PubMed Europe PMC Scholia
- PRDM1 overexpression induce G0/G1 arrest in DF-1 cell line. Wan Z, Lu Y, Rui L, Yu X, Li Z. Gene. 2016 Oct 30;592(1):119–27. PubMed Europe PMC Scholia
- MYO6 Regulates Spatial Organization of Signaling Endosomes Driving AKT Activation and Actin Dynamics. Masters TA, Tumbarello DA, Chibalina MV, Buss F. Cell Rep. 2017 Jun 6;19(10):2088–101. PubMed Europe PMC Scholia
- Exophagy of annexin A2 via RAB11, RAB8A and RAB27A in IFN-γ-stimulated lung epithelial cells. Chen YD, Fang YT, Cheng YL, Lin CF, Hsu LJ, Wang SY, et al. Sci Rep. 2017 Jul 18;7(1):5676. PubMed Europe PMC Scholia
- Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. Nicholls TJ, Nadalutti CA, Motori E, Sommerville EW, Gorman GS, Basu S, et al. Mol Cell. 2018 Jan 4;69(1):9-23.e6. PubMed Europe PMC Scholia
- Amino acid and small GTPase regulation of mTORC1. Nguyen TP, Frank AR, Jewell JL. Cell Logist. 2017 Sep 29;7(4):e1378794. PubMed Europe PMC Scholia
- Serine Catabolism by SHMT2 Is Required for Proper Mitochondrial Translation Initiation and Maintenance of Formylmethionyl-tRNAs. Minton DR, Nam M, McLaughlin DJ, Shin J, Bayraktar EC, Alvarez SW, et al. Mol Cell. 2018 Feb 15;69(4):610-621.e5. PubMed Europe PMC Scholia
- The multi-subunit GID/CTLH E3 ubiquitin ligase promotes cell proliferation and targets the transcription factor Hbp1 for degradation. Lampert F, Stafa D, Goga A, Soste MV, Gilberto S, Olieric N, et al. Elife. 2018 Jun 18;7:e35528. PubMed Europe PMC Scholia
- Role of TLR4/MyD88/NF-κB signaling pathway in coronary microembolization-induced myocardial injury prevented and treated with nicorandil. Su Q, Lv X, Sun Y, Ye Z, Kong B, Qin Z. Biomed Pharmacother. 2018 Oct;106:776–84. PubMed Europe PMC Scholia
- MiD49 and MiD51: New mediators of mitochondrial fission and novel targets for cardioprotection. Samangouei P, Crespo-Avilan GE, Cabrera-Fuentes H, Hernández-Reséndiz S, Ismail NI, Katwadi KB, et al. Cond Med. 2018 Aug;1(5):239–46. PubMed Europe PMC Scholia
- The positive circadian regulators CLOCK and BMAL1 control G2/M cell cycle transition through Cyclin B1. Farshadi E, Yan J, Leclere P, Goldbeter A, Chaves I, van der Horst GTJ. Cell Cycle. 2019 Jan;18(1):16–33. PubMed Europe PMC Scholia
- SMCR8 negatively regulates AKT and MTORC1 signaling to modulate lysosome biogenesis and tissue homeostasis. Lan Y, Sullivan PM, Hu F. Autophagy. 2019 May;15(5):871–85. PubMed Europe PMC Scholia
- The mammalian CTLH complex is an E3 ubiquitin ligase that targets its subunit muskelin for degradation. Maitland MER, Onea G, Chiasson CA, Wang X, Ma J, Moor SE, et al. Sci Rep. 2019 Jul 8;9(1):9864. PubMed Europe PMC Scholia
- The Emerging Roles of mTORC1 in Macromanaging Autophagy. Dossou AS, Basu A. Cancers (Basel). 2019 Sep 24;11(10):1422. PubMed Europe PMC Scholia
- RhoA/ROCK pathway: implication in osteoarthritis and therapeutic targets. Deng Z, Jia Y, Liu H, He M, Yang Y, Xiao W, et al. Am J Transl Res. 2019 Sep 15;11(9):5324–31. PubMed Europe PMC Scholia
- Structural mechanism of a Rag GTPase activation checkpoint by the lysosomal folliculin complex. Lawrence RE, Fromm SA, Fu Y, Yokom AL, Kim DJ, Thelen AM, et al. Science. 2019 Nov 22;366(6468):971–7. PubMed Europe PMC Scholia
- C9orf72 and smcr8 mutant mice reveal MTORC1 activation due to impaired lysosomal degradation and exocytosis. Shao Q, Yang M, Liang C, Ma L, Zhang W, Jiang Z, et al. Autophagy. 2020 Sep;16(9):1635–50. PubMed Europe PMC Scholia
- Y RNAs: Biogenesis, Function and Implications for the Cardiovascular System. Valkov N, Das S. Adv Exp Med Biol. 2020;1229:327–42. PubMed Europe PMC Scholia
- Drp1 regulates mitochondrial dysfunction and dysregulated metabolism in ischemic injury via Clec16a-, BAX-, and GSH- pathways. Duan C, Kuang L, Xiang X, Zhang J, Zhu Y, Wu Y, et al. Cell Death Dis. 2020 Apr 20;11(4):251. PubMed Europe PMC Scholia
- Srebf1 Controls Midbrain Dopaminergic Neurogenesis. Toledo EM, Yang S, Gyllborg D, van Wijk KE, Sinha I, Varas-Godoy M, et al. Cell Rep. 2020 May 5;31(5):107601. PubMed Europe PMC Scholia
- RAB39B’s role in membrane traffic, autophagy, and associated neuropathology. Tang BL. J Cell Physiol. 2021 Mar;236(3):1579–92. PubMed Europe PMC Scholia
- The ATPase mechanism of myosin 15, the molecular motor mutated in DFNB3 human deafness. Jiang F, Takagi Y, Shams A, Heissler SM, Friedman TB, Sellers JR, et al. J Biol Chem. 2021;296:100243. PubMed Europe PMC Scholia
- MicroRNA-mediated regulation of glucose and lipid metabolism. Agbu P, Carthew RW. Nat Rev Mol Cell Biol. 2021 Jun;22(6):425–38. PubMed Europe PMC Scholia
- Structure of the human Mediator-RNA polymerase II pre-initiation complex. Rengachari S, Schilbach S, Aibara S, Dienemann C, Cramer P. Nature. 2021 Jun;594(7861):129–33. PubMed Europe PMC Scholia
- The tumor suppressor folliculin inhibits lactate dehydrogenase A and regulates the Warburg effect. Woodford MR, Baker-Williams AJ, Sager RA, Backe SJ, Blanden AR, Hashmi F, et al. Nat Struct Mol Biol. 2021 Aug;28(8):662–70. PubMed Europe PMC Scholia
- Metformin Is a Pyridoxal-5’-phosphate (PLP)-Competitive Inhibitor of SHMT2. Tramonti A, Cuyàs E, Encinar JA, Pietzke M, Paone A, Verdura S, et al. Cancers (Basel). 2021 Aug 9;13(16):4009. PubMed Europe PMC Scholia
- YAP and TAZ are transcriptional co-activators of AP-1 proteins and STAT3 during breast cellular transformation. He L, Pratt H, Gao M, Wei F, Weng Z, Struhl K. Elife. 2021 Aug 31;10:e67312. PubMed Europe PMC Scholia
- DRP1 interacts directly with BAX to induce its activation and apoptosis. Jenner A, Peña-Blanco A, Salvador-Gallego R, Ugarte-Uribe B, Zollo C, Ganief T, et al. EMBO J. 2022 Apr 19;41(8):e108587. PubMed Europe PMC Scholia
- DRG2 Depletion Promotes Endothelial Cell Senescence and Vascular Endothelial Dysfunction. Le AN, Park SS, Le MX, Lee UH, Ko BK, Lim HR, et al. Int J Mol Sci. 2022 Mar 6;23(5):2877. PubMed Europe PMC Scholia
- DRC3 is an assembly adapter of the nexin-dynein regulatory complex functional components during spermatogenesis in humans and mice. Zhou S, Yuan S, Zhang J, Meng L, Zhang X, Liu S, et al. Signal Transduct Target Ther. 2023 Jan 10;8(1):26. PubMed Europe PMC Scholia
- The Circadian Clock, Nutritional Signals and Reproduction: A Close Relationship. Ono M, Ando H, Daikoku T, Fujiwara T, Mieda M, Mizumoto Y, et al. Int J Mol Sci. 2023 Jan 12;24(2):1545. PubMed Europe PMC Scholia
- CLEC16A-An Emerging Master Regulator of Autoimmunity and Neurodegeneration. Pandey R, Bakay M, Hakonarson H. Int J Mol Sci. 2023 May 4;24(9):8224. PubMed Europe PMC Scholia
- COPS3 inhibition promotes cell proliferation blockage and anoikis via regulating PFKFB3 in osteosarcoma cancer cells. Zhang F, Li Q, Zhang Y, Li N, Rao M, Li S, et al. Eur J Pharmacol. 2023 Jul 15;951:175799. PubMed Europe PMC Scholia