7q11.23 copy number variation syndrome (WP4932)

Homo sapiens

7q11.23 copy number variation syndrome (MIM 609757, also called Williams-Beuren region duplication syndrome, WBS duplication syndrome, Chromosome 7q11.23 duplication syndrome, or Somerville-van-der-Aa syndrome) is a copy number variation syndrome with a duplication in the region chr7:72,744,454-74,142,513 (GRCh37/hg19). The breakpoint is defined from Carolyn B Mervis 7q11.23 Duplication Syndrome in Gene Reviews PMID: 20301295.

Authors

Friederike Ehrhart , Egon Willighagen , and Eric Weitz

Activity

last edited

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

Disease Ontology

chromosomal duplication syndrome genetic disease Williams-Beuren syndrome

Pathway Ontology

disease pathway

Participants

Label Type Compact URI Comment
rRNA Metabolite chebi:18111
S-adenosyl-L-homocysteine Metabolite chebi:16680
ATP Metabolite chebi:30616
Norepinephrine Metabolite chebi:18357
GABA Metabolite chebi:16865
L-tyrosine residue Metabolite chebi:46858
Serotonin Metabolite chebi:28790
FK506 Metabolite chebi:61049
S-adenosyl-L-methionine Metabolite chebi:15414
N7-methylguanosine 5'-phosphate residue Metabolite chebi:74480
guanosine 5'-monophosphate residue Metabolite chebi:50324
rapamycin Metabolite chebi:9168
Dopamine Metabolite chebi:18243
Cl- Metabolite chebi:17996
Glutamate Metabolite chebi:14321
Acetylcholine Metabolite chebi:15355
glucose Metabolite chebi:17234
ADP Metabolite chebi:456216
L-tyrosine-O-phosphate(2−) residue Metabolite chebi:82620
RNU6-1198P GeneProduct ensembl:ENSG00000252713
hsa-mir-4284 GeneProduct mirbase:MI0015893
RN7SL265P GeneProduct ensembl:ENSG00000241709
ABHD11-AS1 GeneProduct ensembl:ENSG00000225969
ELN-AS1 GeneProduct ensembl:ENSG00000232415
MYO1C GeneProduct uniprot:O00159
ERCC6 GeneProduct uniprot:Q03468
DEK GeneProduct uniprot:P35659
SMARCA5 GeneProduct uniprot:O60264
DDX21 GeneProduct uniprot:Q9NR30
MYBBP1A GeneProduct uniprot:Q9BQG0
SF3B1 GeneProduct uniprot:O75533
BAZ1B GeneProduct uniprot:Q9UIG0
ATP5A1 GeneProduct ensembl:ENSG00000152234
ATPAF2 GeneProduct ensembl:ENSG00000171953
ATP5B GeneProduct ensembl:ENSG00000110955
ATPAF1 GeneProduct ensembl:ENSG00000123472
VPS9D1 GeneProduct ensembl:ENSG00000075399 C16orf7
ATP5D GeneProduct ensembl:ENSG00000099624
ATP5E GeneProduct ensembl:ENSG00000124172
ATP5O GeneProduct ensembl:ENSG00000241837
ATP6 GeneProduct ensembl:ENSG00000198899 MT-ATP6
ATP8 GeneProduct ensembl:ENSG00000228253 MT-ATP8
ATP5PB GeneProduct ensembl:ENSG00000116459 ATP5F1
ATP5MC1 GeneProduct ensembl:ENSG00000159199 ATP5G1
ATP5MC2 GeneProduct ensembl:ENSG00000135390 ATP5G2
ATP5MC3 GeneProduct ensembl:ENSG00000154518 ATP5G3
MIR590 GeneProduct ensembl:ENSG00000207741
RNU6-1070P GeneProduct ensembl:ENSG00000252538
RNA5SP233 GeneProduct ensembl:ENSG00000238391
FBLN5 GeneProduct ensembl:ENSG00000140092
GTF2I GeneProduct ensembl:ENSG00000263001
MAPK3 GeneProduct ensembl:ENSG00000102882
HDAC2 GeneProduct ensembl:ENSG00000196591
ATF4 GeneProduct ensembl:ENSG00000128272
CLDN4 GeneProduct ensembl:ENSG00000189143
TBL2 GeneProduct ensembl:ENSG00000106638
RNU6-1080P GeneProduct ensembl:ENSG00000206709
UBE2E1 GeneProduct ensembl:ENSG00000170142
LIMK1 GeneProduct ensembl:ENSG00000106683
CLTC GeneProduct ensembl:ENSG00000141367
USF1 GeneProduct ensembl:ENSG00000158773
BAZ1B GeneProduct ensembl:ENSG00000009954
NRG1 GeneProduct ensembl:ENSG00000157168
TRIM50 GeneProduct ensembl:ENSG00000146755
TMEM270 GeneProduct ensembl:ENSG00000175877
ABHD11 GeneProduct ensembl:ENSG00000106077
STAG3L2 GeneProduct ensembl:ENSG00000277072
SQSTM1 GeneProduct ensembl:ENSG00000161011
EIF4H GeneProduct ensembl:ENSG00000106682
WNT2 GeneProduct ensembl:ENSG00000105989
FZD9 GeneProduct ensembl:ENSG00000188763
RFC2 GeneProduct ensembl:ENSG00000049541
CLIP2 GeneProduct ensembl:ENSG00000106665
RB1 GeneProduct ensembl:ENSG00000139687
CTNNB1 GeneProduct ensembl:ENSG00000168036
NUP62 GeneProduct ensembl:ENSG00000213024
TSG101 GeneProduct ensembl:ENSG00000074319 VPS23
HSPA2 GeneProduct ensembl:ENSG00000126803
SNAP25 GeneProduct ensembl:ENSG00000132639
HOXC8 GeneProduct ensembl:ENSG00000037965
METTL27 GeneProduct ensembl:ENSG00000165171
BCL7B GeneProduct ensembl:ENSG00000106635
DLD GeneProduct ensembl:ENSG00000091140
CLASP1 GeneProduct ensembl:ENSG00000074054
FBLN2 GeneProduct ensembl:ENSG00000163520
UBE2L6 GeneProduct ensembl:ENSG00000156587
MLXIPL GeneProduct ensembl:ENSG00000009950 ChREBP
CLDN3 GeneProduct ensembl:ENSG00000165215
GAPDH GeneProduct ensembl:ENSG00000111640
PCNA GeneProduct ensembl:ENSG00000132646
MVB12A GeneProduct ensembl:ENSG00000141971
PRKG1 GeneProduct ensembl:ENSG00000185532
GRIP1 GeneProduct ensembl:ENSG00000155974
CLDN5 GeneProduct ensembl:ENSG00000184113
UBIAD1 GeneProduct ensembl:ENSG00000120942 TERE1
VPS37D GeneProduct ensembl:ENSG00000176428
DLST GeneProduct ensembl:ENSG00000119689
STX1A GeneProduct ensembl:ENSG00000106089
ULK1 GeneProduct ensembl:ENSG00000177169
OGDH GeneProduct ensembl:ENSG00000105953
HDAC6 GeneProduct ensembl:ENSG00000094631
VAMP2 GeneProduct ensembl:ENSG00000220205
DNAJC30 GeneProduct ensembl:ENSG00000176410
RFC5 GeneProduct ensembl:ENSG00000111445
CDKN1C GeneProduct ensembl:ENSG00000129757
CLASP2 GeneProduct ensembl:ENSG00000163539
BUD23 GeneProduct ensembl:ENSG00000071462
GTF2IRD1 GeneProduct ensembl:ENSG00000006704
FBN1 GeneProduct ensembl:ENSG00000166147
BTK GeneProduct ensembl:ENSG00000010671
MYC GeneProduct ensembl:ENSG00000136997
BRD4 GeneProduct ensembl:ENSG00000141867
EIF2A GeneProduct ensembl:ENSG00000144895
HMGA1 GeneProduct ensembl:ENSG00000137309
FKBP6 GeneProduct ensembl:ENSG00000077800
BECN1 GeneProduct ensembl:ENSG00000126581
CFL1 GeneProduct ensembl:ENSG00000172757
CHTF18 GeneProduct ensembl:ENSG00000127586
EIF2AK3 GeneProduct ensembl:ENSG00000172071 PERK
LAT2 GeneProduct ensembl:ENSG00000086730
HDAC3 GeneProduct ensembl:ENSG00000171720
CLDN1 GeneProduct ensembl:ENSG00000163347
GRB2 GeneProduct ensembl:ENSG00000177885
ELN GeneProduct ensembl:ENSG00000049540
UBE2E3 GeneProduct ensembl:ENSG00000170035
FAS GeneProduct ensembl:ENSG00000026103
ACACA GeneProduct ensembl:ENSG00000278540
ACACB GeneProduct ensembl:ENSG00000076555
PKLR GeneProduct ensembl:ENSG00000143627
VPS28 GeneProduct ensembl:ENSG00000160948 VPS23
VPS37A GeneProduct ensembl:ENSG00000155975 VPS23
VPS37B GeneProduct ensembl:ENSG00000139722 VPS23
VPS37C GeneProduct ensembl:ENSG00000167987 VPS23
FAS Protein ensembl:ENSG00000026103
ACACA Protein ensembl:ENSG00000278540
Botulinum neurotoxin type C Protein uniprot:P18640
Clostridium enterotoxin Protein pfam:PF03505
H2AX Protein uniprot:P16104
ACACB Protein ensembl:ENSG00000076555
PKLR Protein ensembl:ENSG00000143627
ATF4 Protein ensembl:ENSG00000128272

References

  1. The subunits of activator 1 (replication factor C) carry out multiple functions essential for proliferating-cell nuclear antigen-dependent DNA synthesis. Pan ZQ, Chen M, Hurwitz J. Proc Natl Acad Sci U S A. 1993 Jan 1;90(1):6–10. PubMed Europe PMC Scholia
  2. Direct role for Myc in transcription initiation mediated by interactions with TFII-I. Roy AL, Carruthers C, Gutjahr T, Roeder RG. Nature. 1993 Sep 23;365(6444):359–61. PubMed Europe PMC Scholia
  3. BAP-135, a target for Bruton’s tyrosine kinase in response to B cell receptor engagement. Yang W, Desiderio S. Proc Natl Acad Sci U S A. 1997 Jan 21;94(2):604–9. PubMed Europe PMC Scholia
  4. A complex consisting of human replication factor C p40, p37, and p36 subunits is a DNA-dependent ATPase and an intermediate in the assembly of the holoenzyme. Cai J, Gibbs E, Uhlmann F, Phillips B, Yao N, O’Donnell M, et al. J Biol Chem. 1997 Jul 25;272(30):18974–81. PubMed Europe PMC Scholia
  5. Clostridium perfringens enterotoxin utilizes two structurally related membrane proteins as functional receptors in vivo. Katahira J, Sugiyama H, Inoue N, Horiguchi Y, Matsuda M, Sugimoto N. J Biol Chem. 1997 Oct 17;272(42):26652–8. PubMed Europe PMC Scholia
  6. Cloning of an inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1. Roy AL, Du H, Gregor PD, Novina CD, Martinez E, Roeder RG. EMBO J. 1997 Dec 1;16(23):7091–104. PubMed Europe PMC Scholia
  7. Purification and characterization of a new eukaryotic protein translation factor. Eukaryotic initiation factor 4H. Richter-Cook NJ, Dever TE, Hensold JO, Merrick WC. J Biol Chem. 1998 Mar 27;273(13):7579–87. PubMed Europe PMC Scholia
  8. Transmembrane neuregulins interact with LIM kinase 1, a cytoplasmic protein kinase implicated in development of visuospatial cognition. Wang JY, Frenzel KE, Wen D, Falls DL. J Biol Chem. 1998 Aug 7;273(32):20525–34. PubMed Europe PMC Scholia
  9. ATP hydrolysis catalyzed by human replication factor C requires participation of multiple subunits. Cai J, Yao N, Gibbs E, Finkelstein J, Phillips B, O’Donnell M, et al. Proc Natl Acad Sci U S A. 1998 Sep 29;95(20):11607–12. PubMed Europe PMC Scholia
  10. Regulation of nuclear localization and transcriptional activity of TFII-I by Bruton’s tyrosine kinase. Novina CD, Kumar S, Bajpai U, Cheriyath V, Zhang K, Pillai S, et al. Mol Cell Biol. 1999 Jul;19(7):5014–24. PubMed Europe PMC Scholia
  11. Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I. Yan X, Zhao X, Qian M, Guo N, Gong X, Zhu X. Biochem J. 2000 Feb 1;345 Pt 3(Pt 3):749–57. PubMed Europe PMC Scholia
  12. Extracellular signal-regulated kinase binds to TFII-I and regulates its activation of the c-fos promoter. Kim DW, Cochran BH. Mol Cell Biol. 2000 Feb;20(4):1140–8. PubMed Europe PMC Scholia
  13. Clasps are CLIP-115 and -170 associating proteins involved in the regional regulation of microtubule dynamics in motile fibroblasts. Akhmanova A, Hoogenraad CC, Drabek K, Stepanova T, Dortland B, Verkerk T, et al. Cell. 2001 Mar 23;104(6):923–35. PubMed Europe PMC Scholia
  14. Repression of TFII-I-dependent transcription by nuclear exclusion. Tussié-Luna MI, Bayarsaihan D, Ruddle FH, Roy AL. Proc Natl Acad Sci U S A. 2001 Jul 3;98(14):7789–94. PubMed Europe PMC Scholia
  15. Glucose and cAMP regulate the L-type pyruvate kinase gene by phosphorylation/dephosphorylation of the carbohydrate response element binding protein. Kawaguchi T, Takenoshita M, Kabashima T, Uyeda K. Proc Natl Acad Sci U S A. 2001 Nov 20;98(24):13710–5. PubMed Europe PMC Scholia
  16. cGMP-dependent protein kinase I beta physically and functionally interacts with the transcriptional regulator TFII-I. Casteel DE, Zhuang S, Gudi T, Tang J, Vuica M, Desiderio S, et al. J Biol Chem. 2002 Aug 30;277(35):32003–14. PubMed Europe PMC Scholia
  17. A proteomics approach to identify proliferating cell nuclear antigen (PCNA)-binding proteins in human cell lysates. Identification of the human CHL12/RFCs2-5 complex as a novel PCNA-binding protein. Ohta S, Shiomi Y, Sugimoto K, Obuse C, Tsurimoto T. J Biol Chem. 2002 Oct 25;277(43):40362–7. PubMed Europe PMC Scholia
  18. A Mammalian bromodomain protein, brd4, interacts with replication factor C and inhibits progression to S phase. Maruyama T, Farina A, Dey A, Cheong J, Bermudez VP, Tamura T, et al. Mol Cell Biol. 2002 Sep;22(18):6509–20. PubMed Europe PMC Scholia
  19. Physical and functional interactions of histone deacetylase 3 with TFII-I family proteins and PIASxbeta. Tussié-Luna MI, Bayarsaihan D, Seto E, Ruddle FH, Roy AL. Proc Natl Acad Sci U S A. 2002 Oct 1;99(20):12807–12. PubMed Europe PMC Scholia
  20. Histone deacetylase 3 binds to and regulates the multifunctional transcription factor TFII-I. Wen YD, Cress WD, Roy AL, Seto E. J Biol Chem. 2003 Jan 17;278(3):1841–7. PubMed Europe PMC Scholia
  21. A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes. Hakimi MA, Dong Y, Lane WS, Speicher DW, Shiekhattar R. J Biol Chem. 2003 Feb 28;278(9):7234–9. PubMed Europe PMC Scholia
  22. LAB: a new membrane-associated adaptor molecule in B cell activation. Janssen E, Zhu M, Zhang W, Koonpaew S, Zhang W. Nat Immunol. 2003 Feb;4(2):117–23. PubMed Europe PMC Scholia
  23. Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis. Crackower MA, Kolas NK, Noguchi J, Sarao R, Kikuchi K, Kaneko H, et al. Science. 2003 May 23;300(5623):1291–5. PubMed Europe PMC Scholia
  24. Cloning and characterization of hCTF18, hCTF8, and hDCC1. Human homologs of a Saccharomyces cerevisiae complex involved in sister chromatid cohesion establishment. Merkle CJ, Karnitz LM, Henry-Sánchez JT, Chen J. J Biol Chem. 2003 Aug 8;278(32):30051–6. PubMed Europe PMC Scholia
  25. Role of claudin interactions in airway tight junctional permeability. Coyne CB, Gambling TM, Boucher RC, Carson JL, Johnson LG. Am J Physiol Lung Cell Mol Physiol. 2003 Nov;285(5):L1166-78. PubMed Europe PMC Scholia
  26. The alternative Ctf18-Dcc1-Ctf8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA. Bermudez VP, Maniwa Y, Tappin I, Ozato K, Yokomori K, Hurwitz J. Proc Natl Acad Sci U S A. 2003 Sep 2;100(18):10237–42. PubMed Europe PMC Scholia
  27. Direct signaling by the BMP type II receptor via the cytoskeletal regulator LIMK1. Foletta VC, Lim MA, Soosairajah J, Kelly AP, Stanley EG, Shannon M, et al. J Cell Biol. 2003 Sep 15;162(6):1089–98. PubMed Europe PMC Scholia
  28. p57Kip2 regulates actin dynamics by binding and translocating LIM-kinase 1 to the nucleus. Yokoo T, Toyoshima H, Miura M, Wang Y, Iida KT, Suzuki H, et al. J Biol Chem. 2003 Dec 26;278(52):52919–23. PubMed Europe PMC Scholia
  29. Mechanism of Bruton’s tyrosine kinase-mediated recruitment and regulation of TFII-I. Sacristán C, Tussié-Luna MI, Logan SM, Roy AL. J Biol Chem. 2004 Feb 20;279(8):7147–58. PubMed Europe PMC Scholia
  30. Deficiency of carbohydrate response element-binding protein (ChREBP) reduces lipogenesis as well as glycolysis. Iizuka K, Bruick RK, Liang G, Horton JD, Uyeda K. Proc Natl Acad Sci U S A. 2004 May 11;101(19):7281–6. PubMed Europe PMC Scholia
  31. The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci. Poot RA, Bozhenok L, van den Berg DLC, Steffensen S, Ferreira F, Grimaldi M, et al. Nat Cell Biol. 2004 Dec;6(12):1236–44. PubMed Europe PMC Scholia
  32. The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription. Cavellán E, Asp P, Percipalle P, Farrants AKO. J Biol Chem. 2006 Jun 16;281(24):16264–71. PubMed Europe PMC Scholia
  33. ChREBP*Mlx is the principal mediator of glucose-induced gene expression in the liver. Ma L, Robinson LN, Towle HC. J Biol Chem. 2006 Sep 29;281(39):28721–30. PubMed Europe PMC Scholia
  34. Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin. El-Hallous E, Sasaki T, Hubmacher D, Getie M, Tiedemann K, Brinckmann J, et al. J Biol Chem. 2007 Mar 23;282(12):8935–46. PubMed Europe PMC Scholia
  35. The neuregulin-I/ErbB signaling system in development and disease. Britsch S. Adv Anat Embryol Cell Biol. 2007;190:1–65. PubMed Europe PMC Scholia
  36. Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. Micale L, Fusco C, Augello B, Napolitano LMR, Dermitzakis ET, Meroni G, et al. Eur J Hum Genet. 2008 Sep;16(9):1038–49. PubMed Europe PMC Scholia
  37. FKBP36 forms complexes with clathrin and Hsp72 in spermatocytes. Jarczowski F, Fischer G, Edlich F. Biochemistry. 2008 Jul 1;47(26):6946–52. PubMed Europe PMC Scholia
  38. FKBP36 is an inherent multifunctional glyceraldehyde-3-phosphate dehydrogenase inhibitor. Jarczowski F, Jahreis G, Erdmann F, Schierhorn A, Fischer G, Edlich F. J Biol Chem. 2009 Jan 9;284(2):766–73. PubMed Europe PMC Scholia
  39. WSTF regulates the H2A.X DNA damage response via a novel tyrosine kinase activity. Xiao A, Li H, Shechter D, Ahn SH, Fabrizio LA, Erdjument-Bromage H, et al. Nature. 2009 Jan 1;457(7225):57–62. PubMed Europe PMC Scholia
  40. Claudin association with CD81 defines hepatitis C virus entry. Harris HJ, Davis C, Mullins JGL, Hu K, Goodall M, Farquhar MJ, et al. J Biol Chem. 2010 Jul 2;285(27):21092–102. PubMed Europe PMC Scholia
  41. Membrane budding and scission by the ESCRT machinery: it’s all in the neck. Hurley JH, Hanson PI. Nat Rev Mol Cell Biol. 2010 Aug;11(8):556–66. PubMed Europe PMC Scholia
  42. The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome. Fusco C, Micale L, Egorov M, Monti M, D’Addetta EV, Augello B, et al. PLoS One. 2012;7(7):e40440. PubMed Europe PMC Scholia
  43. Munc18-1 controls SNARE protein complex assembly during human sperm acrosomal exocytosis. Rodríguez F, Zanetti MN, Mayorga LS, Tomes CN. J Biol Chem. 2012 Dec 21;287(52):43825–39. PubMed Europe PMC Scholia
  44. The TERE1 protein interacts with mitochondrial TBL2: regulation of trans-membrane potential, ROS/RNS and SXR target genes. Fredericks WJ, McGarvey T, Wang H, Zheng Y, Fredericks NJ, Yin H, et al. J Cell Biochem. 2013 Sep;114(9):2170–87. PubMed Europe PMC Scholia
  45. SQSTM1/p62 interacts with HDAC6 and regulates deacetylase activity. Yan J, Seibenhener ML, Calderilla-Barbosa L, Diaz-Meco MT, Moscat J, Jiang J, et al. PLoS One. 2013 Sep 27;8(9):e76016. PubMed Europe PMC Scholia
  46. Transcriptional control of hepatic lipid metabolism by SREBP and ChREBP. Xu X, So JS, Park JG, Lee AH. Semin Liver Dis. 2013 Nov;33(4):301–11. PubMed Europe PMC Scholia
  47. HDAC6 mediates the acetylation of TRIM50. Fusco C, Micale L, Augello B, Mandriani B, Pellico MT, De Nittis P, et al. Cell Signal. 2014 Feb;26(2):363–9. PubMed Europe PMC Scholia
  48. The methyltransferase WBSCR22/Merm1 enhances glucocorticoid receptor function and is regulated in lung inflammation and cancer. Jangani M, Poolman TM, Matthews L, Yang N, Farrow SN, Berry A, et al. J Biol Chem. 2014 Mar 28;289(13):8931–46. PubMed Europe PMC Scholia
  49. TBL2 is a novel PERK-binding protein that modulates stress-signaling and cell survival during endoplasmic reticulum stress. Tsukumo Y, Tsukahara S, Furuno A, Iemura S ichiro, Natsume T, Tomida A. PLoS One. 2014 Nov 13;9(11):e112761. PubMed Europe PMC Scholia
  50. The Tumor Suppressor BCL7B Functions in the Wnt Signaling Pathway. Uehara T, Kage-Nakadai E, Yoshina S, Imae R, Mitani S. PLoS Genet. 2015 Jan 8;11(1):e1004921. PubMed Europe PMC Scholia
  51. The human 18S rRNA base methyltransferases DIMT1L and WBSCR22-TRMT112 but not rRNA modification are required for ribosome biogenesis. Zorbas C, Nicolas E, Wacheul L, Huvelle E, Heurgué-Hamard V, Lafontaine DLJ. Mol Biol Cell. 2015 Jun 1;26(11):2080–95. PubMed Europe PMC Scholia
  52. TBL2 Associates With ATF4 mRNA Via Its WD40 Domain and Regulates Its Translation During ER Stress. Tsukumo Y, Tsukahara S, Furuno A, Iemura S ichiro, Natsume T, Tomida A. J Cell Biochem. 2016 Feb;117(2):500–9. PubMed Europe PMC Scholia
  53. SUMOylation of Syntaxin1A regulates presynaptic endocytosis. Craig TJ, Anderson D, Evans AJ, Girach F, Henley JM. Sci Rep. 2015 Dec 4;5:17669. PubMed Europe PMC Scholia
  54. A human neurodevelopmental model for Williams syndrome. Chailangkarn T, Trujillo CA, Freitas BC, Hrvoj-Mihic B, Herai RH, Yu DX, et al. Nature. 2016 Aug 18;536(7616):338–43. PubMed Europe PMC Scholia
  55. TRIM50 regulates Beclin 1 proautophagic activity. Fusco C, Mandriani B, Di Rienzo M, Micale L, Malerba N, Cocciadiferro D, et al. Biochim Biophys Acta Mol Cell Res. 2018 Jun;1865(6):908–19. PubMed Europe PMC Scholia
  56. The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development. Tebbenkamp ATN, Varela L, Choi J, Paredes MI, Giani AM, Song JE, et al. Cell. 2018 Nov 1;175(4):1088-1104.e23. PubMed Europe PMC Scholia