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232 results

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Page 1
Altered MYO5B Function Underlies Microvillus Inclusion Disease: Opportunities for Intervention at a Cellular Level.
Bowman DM, Kaji I, Goldenring JR. Bowman DM, et al. Cell Mol Gastroenterol Hepatol. 2022;14(3):553-565. doi: 10.1016/j.jcmgh.2022.04.015. Epub 2022 Jun 1. Cell Mol Gastroenterol Hepatol. 2022. PMID: 35660026 Free PMC article. Review.
These studies have demonstrated that loss of MYO5B or inactivating mutations lead to loss of apical sodium and water transporters, without loss of apical CFTR, accounting for the major pathology of the disease. ...Recent investigations have demonstrated that administration …
These studies have demonstrated that loss of MYO5B or inactivating mutations lead to loss of apical sodium and water transporters, wi …
MYO5B Deficiency-Associated Cholestasis and the Role of the Bile Salt Export Pump.
Zhou Z, van IJzendoorn SCD. Zhou Z, et al. Cells. 2026 Jan 5;15(1):92. doi: 10.3390/cells15010092. Cells. 2026. PMID: 41511375 Free PMC article.
However, while BSEP localization was abnormal in some patients' liver biopsies, BSEP appeared normally localized in others, raising questions with regard to the role of BSEP in MYO5B-associated FIC. We present a focused systematic narrative review of all cases of MYO5B …
However, while BSEP localization was abnormal in some patients' liver biopsies, BSEP appeared normally localized in others, raising question …
MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation.
Wang L, Qiu YL, Xu HM, Zhu J, Li SJ, OuYang WX, Yang YF, Lu Y, Xie XB, Xing QH, Wang JS. Wang L, et al. Liver Int. 2022 Feb;42(2):402-411. doi: 10.1111/liv.15104. Epub 2021 Nov 29. Liver Int. 2022. PMID: 34811877
Only patients with biallelic MYO5B variants were enrolled. Nonsense, frameshift, canonical splice sites, initiation codon loss, and single exon or multiexon deletion were defined as null MYO5B variants. ...CONCLUSIONS: The phenotype of MYO5B deficiency was as …
Only patients with biallelic MYO5B variants were enrolled. Nonsense, frameshift, canonical splice sites, initiation codon loss, and s …
MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.
Dhekne HS, Pylypenko O, Overeem AW, Zibouche M, Ferreira RJ, van der Velde KJ, Rings EHHM, Posovszky C, van der Sluijs P, Swertz MA, Houdusse A, van IJzendoorn SCD. Dhekne HS, et al. Hum Mutat. 2018 Mar;39(3):333-344. doi: 10.1002/humu.23386. Epub 2018 Jan 17. Hum Mutat. 2018. PMID: 29266534 Free PMC article. Review.
Microvillus inclusion disease (MVID) is a rare but fatal autosomal recessive congenital diarrheal disorder caused by MYO5B mutations. In 2013, we launched an open-access registry for MVID patients and their MYO5B mutations (www.mvid-central.org). Since then, additio …
Microvillus inclusion disease (MVID) is a rare but fatal autosomal recessive congenital diarrheal disorder caused by MYO5B mutations. …
MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression.
Tomić TT, Olausson J, Rehammar A, Deland L, Muth A, Ejeskär K, Nilsson S, Kristiansson E, Wassén ON, Abel F. Tomić TT, et al. PLoS Genet. 2020 Jun 8;16(6):e1008803. doi: 10.1371/journal.pgen.1008803. eCollection 2020 Jun. PLoS Genet. 2020. PMID: 32511227 Free PMC article.
We recently reported novel recurrent nonsynonymous mutations in the MYO5B gene in metastatic PPGL. Here, we explored the functional impact of these MYO5B mutations, and analyzed MYO5B expression in primary PPGL tumor cases in relation to mutation status. Immu …
We recently reported novel recurrent nonsynonymous mutations in the MYO5B gene in metastatic PPGL. Here, we explored the functional i …
Progressive Familial Intrahepatic Cholestasis.
Bull LN, Thompson RJ. Bull LN, et al. Clin Liver Dis. 2018 Nov;22(4):657-669. doi: 10.1016/j.cld.2018.06.003. Epub 2018 Aug 3. Clin Liver Dis. 2018. PMID: 30266155 Free article. Review.
ATP8B1 encodes FIC1, ABCB11 encodes BSEP, ABCB4 encodes MDR3, TJP2 encodes TJP2, NR1H4 encodes FXR, and MYO5B encodes MYO5B. The full spectra of phenotypes associated with mutations in each gene are discussed, along with our understanding of the disease mechanisms. …
ATP8B1 encodes FIC1, ABCB11 encodes BSEP, ABCB4 encodes MDR3, TJP2 encodes TJP2, NR1H4 encodes FXR, and MYO5B encodes MYO5B. T …
Microvillus inclusion disease-causing MYO5B point mutations exert differential effects on motor function.
Bowman DM, Meenderink LM, Thomas KS, Manning EH, Tyska MJ, Goldenring JR. Bowman DM, et al. J Biol Chem. 2025 Apr;301(4):108328. doi: 10.1016/j.jbc.2025.108328. Epub 2025 Feb 18. J Biol Chem. 2025. PMID: 39978676 Free PMC article.
Although previous studies seeking to understand MVID disease pathology used MYO5B KO models, many patients have point mutations and thus express a dysfunctional MYO5B. ...Additionally, analysis of fluorescence recovery after photobleaching turnover kinetics suggests …
Although previous studies seeking to understand MVID disease pathology used MYO5B KO models, many patients have point mutations and t …
Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase Cholestasis.
Wang L, Qiu YL, Abuduxikuer K, Wang NL, Li ZD, Cheng Y, Lu Y, Xie XB, Xing QH, Wang JS. Wang L, et al. Hum Mutat. 2023 Jul 27;2023:8848362. doi: 10.1155/2023/8848362. eCollection 2023. Hum Mutat. 2023. PMID: 40225142 Free PMC article.
Biallelic MYO5B variants have been associated with familial intrahepatic cholestasis (FIC) with low serum gamma-glutamyltransferase (GGT). Intronic or synonymous variants outside of canonical splice sites (hereinafter referred to as noncanonical variants) with uncertain si …
Biallelic MYO5B variants have been associated with familial intrahepatic cholestasis (FIC) with low serum gamma-glutamyltransferase ( …
Myo5b Transports Fibronectin-Containing Vesicles and Facilitates FN1 Secretion from Human Pleural Mesothelial Cells.
Sakai T, Choo YY, Sato O, Ikebe R, Jeffers A, Idell S, Tucker T, Ikebe M. Sakai T, et al. Int J Mol Sci. 2022 Apr 27;23(9):4823. doi: 10.3390/ijms23094823. Int J Mol Sci. 2022. PMID: 35563212 Free PMC article.
TGF-beta significantly increased the expression and secretion of FN1 from HPMCs and facilitates the close association of Myo5B with FN1 and Rab11b. Moreover, Myo5b directly binds to GTP bound Rab11b (Rab11b-GTP) but not GDP bound Rab11b. Myo5b or Rab11b knock …
TGF-beta significantly increased the expression and secretion of FN1 from HPMCs and facilitates the close association of Myo5B with F …
232 results