A Functional Relationship Between UNC45A and MYO5B Connects Two Rare Diseases With Shared Enteropathy
Tài liệu tham khảo
Liu, 2008, Unc45 activates Hsp90-dependent folding of the myosin motor domain, J Biol Chem, 283, 13185, 10.1074/jbc.M800757200
Lee, 2014, The UNC-45 myosin chaperone: from worms to flies to vertebrates, Int Rev Cell Mol Biol, 313, 103, 10.1016/B978-0-12-800177-6.00004-9
Barral, 2002, Role of the myosin assembly protein UNC-45 as a molecular chaperone for myosin, Science, 295, 669, 10.1126/science.1066648
Hutagalung, 2002, The UCS family of myosin chaperones, J Cell Sci, 115, 3983, 10.1242/jcs.00107
Esteve, 2018, Loss-of-function mutations in UNC45A cause a syndrome associating cholestasis, diarrhea, impaired hearing, and bone fragility, Am J Hum Genet, 102, 364, 10.1016/j.ajhg.2018.01.009
Donkervoort, 2020, Pathogenic variants in the myosin chaperone UNC-45B cause progressive myopathy with eccentric cores, Am J Hum Genet, 107, 1078, 10.1016/j.ajhg.2020.11.002
Friedman, 2020, Myosins and hearing, Adv Exp Med Biol, 1239, 317, 10.1007/978-3-030-38062-5_13
Müller, 2008, MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity, Nat Genet, 40, 1163, 10.1038/ng.225
Qiu, 2017, Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis, Hepatology, 65, 1655, 10.1002/hep.29020
Gonzales, 2017, MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease, Hepatology, 65, 164, 10.1002/hep.28779
Overeem, 2019, A molecular mechanism underlying genotype-specific intrahepatic cholestasis resulting from MYO5B mutations, Hepatology
Ruemmele, 2010, Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model, Hum Mutat, 31, 544, 10.1002/humu.21224
Dhekne, 2014, Myosin Vb and Rab11a regulate phosphorylation of ezrin in enterocytes, J Cell Sci, 127, 1007
Lehtimäki, 2017, UNC-45a promotes myosin folding and stress fiber assembly, J Cell Biol, 216, 4053, 10.1083/jcb.201703107
Kachur, 2004, Maternal UNC-45 is involved in cytokinesis and colocalizes with non-muscle myosin in the early Caenorhabditis elegans embryo, J Cell Sci, 117, 5313, 10.1242/jcs.01389
Toi, 2003, She4p/Dim1p interacts with the motor domain of unconventional myosins in the budding yeast, Saccharomyces cerevisiae, Mol Biol Cell, 14, 2237, 10.1091/mbc.e02-09-0616
Sidhaye, 2016, The zebrafish goosepimples/myosin Vb mutant exhibits cellular attributes of human microvillus inclusion disease, Mech Dev, 142, 62, 10.1016/j.mod.2016.08.001
Vogel, 2015, Cargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3, J Cell Biol, 211, 587, 10.1083/jcb.201506112
Knowles, 2014, Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease, J Clin Invest, 124, 2947, 10.1172/JCI71651
Wiegerinck, 2014, Loss of syntaxin 3 causes variant microvillus inclusion disease, Gastroenterology, 147, 65, 10.1053/j.gastro.2014.04.002
Janecke, 2021, Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects, Hum Genet, 140, 1143, 10.1007/s00439-021-02284-1
Dhekne, 2018, MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: a mutation update, Hum Mutat, 39, 333, 10.1002/humu.23386
Stepensky, 2013, Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations, Pediatr Blood Cancer, 60, 1215, 10.1002/pbc.24475
Mosa, 2018, Dynamic formation of microvillus inclusions during enterocyte differentiation in Munc18-2-deficient intestinal organoids, Cell Mol Gastroenterol Hepatol, 6, 477, 10.1016/j.jcmgh.2018.08.001
Szperl, 2011, Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease, J Pediatr Gastroenterol Nutr, 52, 307, 10.1097/MPG.0b013e3181eea177
Golachowska, 2012, MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome, J Pediatr Gastroenterol Nutr, 54, 491, 10.1097/MPG.0b013e3182353773
Thoeni, 2014, Microvillus inclusion disease: loss of myosin vb disrupts intracellular traffic and cell polarity, Traffic, 15, 22, 10.1111/tra.12131
Lapierre, 2001, Myosin vb is associated with plasma membrane recycling systems, Mol Biol Cell, 12, 1843, 10.1091/mbc.12.6.1843
Leng, 2019, Loss of MYO5B expression deregulates late endosome size which hinders mitotic spindle orientation, PLoS Biol, 17, 10.1371/journal.pbio.3000531
Davidson, 1978, Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy, Gastroenterology, 75, 783, 10.1016/0016-5085(78)90458-4
Cutz, 1989, Microvillus inclusion disease: an inherited defect of brush-border assembly and differentiation, N Engl J Med, 320, 646, 10.1056/NEJM198903093201006
Gazda, 2013, The myosin chaperone UNC-45 is organized in tandem modules to support myofilament formation in C. elegans, Cell, 152, 183, 10.1016/j.cell.2012.12.025
Schroeder, 2010, Motor number controls cargo switching at actin-microtubule intersections in vitro, Curr Biol, 20, 687, 10.1016/j.cub.2010.03.024
Habicht, 2019, UNC-45A is preferentially expressed in epithelial cells and binds to and co-localizes with interphase MTs, Cancer Biol Ther, 20, 1304, 10.1080/15384047.2019.1632637
Mooneyham, 2019, UNC-45A is a novel microtubule-associated protein and regulator of paclitaxel sensitivity in ovarian cancer cells, Mol Cancer Res, 17, 370, 10.1158/1541-7786.MCR-18-0670
Kravtsov, 2016, Identification of intestinal ion transport defects in microvillus inclusion disease, Am J Physiol Gastrointest Liver Physiol, 311, G142, 10.1152/ajpgi.00041.2016
Riento, 1998, Interaction of Munc-18-2 with syntaxin 3 controls the association of apical SNAREs in epithelial cells, J Cell Sci, 111, 2681, 10.1242/jcs.111.17.2681
Vogel, 2017, Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations, JCI Insight, 2, 10.1172/jci.insight.94564
Engevik, 2018, Loss of MYO5B leads to reductions in Na+ absorption with maintenance of CFTR-dependent Cl- secretion in enterocytes, Gastroenterology, 155, 1883, 10.1053/j.gastro.2018.08.025
Perry, 2014, Microvillous atrophy: atypical presentations, J Pediatr Gastroenterol Nutr, 59, 779, 10.1097/MPG.0000000000000526
Aldrian, 2021, Congenital diarrhea and cholestatic liver disease: phenotypic spectrum associated with MYO5B mutations, J Clin Med, 10
Chan, 2005, Myosin II regulatory light chain is required for trafficking of bile salt export protein to the apical membrane in Madin-Darby canine kidney cells, J Biol Chem, 280, 23741, 10.1074/jbc.M502767200
Brosnan, 2006, Branched-chain amino acids: enzyme and substrate regulation, J Nutr, 136, 207S
