Affinage

MYO5B

Unconventional myosin-Vb · UniProt Q9ULV0

Length
1848 aa
Mass
213.7 kDa
Annotated
2026-04-29
51 papers in source corpus 18 papers cited in narrative 18 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

MYO5B encodes myosin Vb, an actin-based motor protein that serves as a central effector of Rab GTPases (Rab11a, Rab11b, Rab8a) to drive recycling endosome-dependent apical membrane trafficking in polarized epithelial cells. It forms a tripartite complex with Rab11a and Rab11-FIP2 that tethers recycling vesicles to the actin cytoskeleton, and cooperates with Slp4a/Vamp7/Syntaxin 3 to selectively deliver apical sodium and water transporters (NHE3, SGLT1, DRA, AQP7) while CFTR trafficking is largely MYO5B-independent, explaining the secretory diarrhea of microvillus inclusion disease (MVID) caused by biallelic loss-of-function mutations (PMID:18724368, PMID:30144427, PMID:26553929, PMID:24372966). MYO5B also facilitates endosome-to-mitochondria iron transfer, and its loss causes mitochondrial iron depletion, fragmentation, and respiratory dysfunction (PMID:41908891). In hepatocytes, motor domain missense mutations cause cholestasis not through loss of function but through a Rab11a-dependent gain-of-toxic-function that disrupts apical recycling endosome formation at the trans-Golgi network, a mechanism distinct from intestinal MVID pathology (PMID:31750554, PMID:40127562).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 2008 High

    The fundamental question of which gene underlies microvillus inclusion disease was answered when loss-of-function mutations in MYO5B were identified in MVID patients, establishing MYO5B as essential for apical and basolateral protein trafficking in polarized enterocytes.

    Evidence Homozygosity mapping and mutation identification in MVID patients with fluorescence microscopy showing transferrin receptor mislocalization

    PMID:18724368

    Open questions at the time
    • Mechanism by which MYO5B loss leads to microvillus inclusions was undefined
    • Whether the defect was cell-autonomous was not established
    • Specific cargo pathways dependent on MYO5B were unknown
  2. 2010 High

    Whether MVID pathology is a direct, cell-autonomous consequence of MYO5B loss was confirmed by recapitulating the full MVID phenotype (loss of microvilli, microvillus inclusions) through siRNA knockdown in polarized CaCo-2 cells.

    Evidence siRNA knockdown in polarized CaCo-2 cells with fluorescence and electron microscopy

    PMID:20186687

    Open questions at the time
    • Which Rab GTPase interactions are functionally critical remained unknown
    • Downstream effector cascade unresolved
  3. 2011 High

    The question of how MYO5B is recruited to distinct trafficking compartments was resolved by mapping specific tail domain residues required for Rab8a versus Rab11a binding, and showing both interactions are needed for apical membrane trafficking and de novo lumen formation.

    Evidence Site-directed mutagenesis of MYO5B tail domain, co-immunoprecipitation, transferrin recycling assays, and 3D cyst culture in MDCK cells

    PMID:21282656

    Open questions at the time
    • How MYO5B coordinates Rab8a and Rab11a sequentially or in parallel was unclear
    • Identity of downstream fusion machinery unknown
  4. 2014 High

    The mechanism by which MYO5B controls vesicle dynamics was clarified: a tripartite Rab11a–Rab11-FIP2–MYO5B complex tethers recycling vesicles to the actin cytoskeleton, as disruption of the FIP2–MYO5B interface increases vesicle speed and track length, and MYO5B also mediates apical recycling of BSEP in hepatocytes through Rab11a.

    Evidence Random mutagenesis/yeast two-hybrid identifying FIP2 mutations disrupting MYO5B binding, live imaging of Rab11a vesicle dynamics in HeLa cells; immunohistochemistry of MVID patient liver biopsies

    PMID:24372966 PMID:24375397

    Open questions at the time
    • Whether MYO5B-dependent hepatocyte trafficking is mechanistically identical to enterocyte trafficking was unresolved
    • Fusion machinery downstream of tethering not identified
  5. 2015 High

    The complete exocytic cascade downstream of MYO5B was delineated: Rab11 recruits MYO5B, which associates with Slp4a/Munc18-2/Vamp7 to drive Syntaxin 3-dependent fusion, selectively delivering NHE3, CFTR, and GLUT5 to the apical surface while brush border enzymes use an independent pathway.

    Evidence CRISPR knock-in of patient MYO5B mutation in human epithelial cells, co-immunoprecipitation, live imaging, and cargo-specific immunofluorescence

    PMID:26553929

    Open questions at the time
    • Whether CFTR dependence on MYO5B is context-dependent was unresolved
    • Mechanism of cargo selectivity at the sorting step unknown
  6. 2016 High

    In vivo validation that MYO5B loss causes MVID was achieved with germline and conditional knockout mice, revealing that apical transporter mislocalization (NHE3, SGLT1) rather than microvillus structural defects is the primary cause of diarrhea, and that the phenotype shows regional specificity to duodenum.

    Evidence VillinCre and inducible VillinCreERT2 conditional MYO5B KO mice with immunostaining and electron microscopy

    PMID:27019864

    Open questions at the time
    • Basis for duodenal versus ileal selectivity unknown
    • Compensatory mechanisms in ileum not identified
  7. 2018 High

    The pathophysiological basis of MVID diarrhea was resolved: MYO5B loss selectively mislocalizes sodium/water absorptive transporters (NHE3, SGLT1, DRA, AQP7) while CFTR-mediated chloride secretion is maintained, producing net secretory diarrhea.

    Evidence MYO5B KO mice, Ussing chamber electrophysiology, immunoelectron microscopy, enteroid cultures, and patient duodenal biopsies

    PMID:30144427

    Open questions at the time
    • Whether pharmacological activation of remaining sodium absorption could rescue diarrhea untested
    • Contribution of paracellular permeability changes unknown
  8. 2019 Medium

    An unexpected role for MYO5B in mitotic spindle orientation was uncovered: MYO5B loss causes chloride channel redistribution to giant late endosomes that physically obstruct spindle positioning, with Rab7 identified as the limiting factor.

    Evidence MYO5B KD/KO in epithelial cells, live imaging of mitosis, spindle orientation quantification, Rab7 overexpression rescue, chloride channel inhibitors

    PMID:31682603

    Open questions at the time
    • Whether spindle misorientation contributes to MVID pathology in vivo is untested
    • Mechanism linking MYO5B to chloride channel sorting not defined
    • Single-lab finding
  9. 2020 High

    The cholestasis mechanism was distinguished from the MVID mechanism: motor domain missense mutations cause cholestasis through a Rab11a-dependent gain-of-toxic-function that inhibits apical recycling endosome formation at the TGN, whereas complete MYO5B knockout does not produce canalicular defects in hepatocytes.

    Evidence CRISPR MYO5B KO and patient mutation knock-in in hepatocellular cell lines, active/inactive Rab11a mutant epistasis, liver-specific KO mice

    PMID:31750554

    Open questions at the time
    • Structural basis for how motor-dead MYO5B sequesters Rab11a unknown
    • Whether all cholestasis-associated motor domain mutations share this mechanism untested
  10. 2022 High

    MYO5B was shown to require the co-chaperone UNC45A for its protein stability: UNC45A depletion reduces MYO5B protein levels and phenocopies MYO5B loss (disrupted recycling endosome positioning and microvilli), and MYO5B reintroduction rescues the phenotype independently of UNC45A.

    Evidence CRISPR KO of UNC45A in intestinal and hepatic cell lines, Western blotting, confocal and scanning electron microscopy, rescue experiments

    PMID:35421597

    Open questions at the time
    • Whether UNC45A folds MYO5B co-translationally or post-translationally unknown
    • Whether UNC45A mutations cause MVID-like disease untested
  11. 2022 High

    Beyond Rab11a, Rab11b-GTP was established as a direct MYO5B activator: Rab11b-GTP binding stimulates MYO5B actin-activated ATPase activity and drives fibronectin vesicle transport in mesothelial cells downstream of TGF-β signaling.

    Evidence Co-immunoprecipitation with GTP/GDP-locked Rab11b, in vitro ATPase assay, siRNA knockdown, live imaging of MYO5B/FN1 co-moving vesicles

    PMID:35563212

    Open questions at the time
    • Whether Rab11b plays a role in intestinal MYO5B-dependent trafficking unknown
    • Structural basis for Rab11b versus Rab11a selectivity unresolved
  12. 2025 High

    The gain-of-toxic-function cholestasis mechanism was validated in vivo: expression of MYO5B-p.Arg824Cys in mouse liver induces cholestasis with BSEP mislocalization, while liver-specific Myo5b KO does not cause liver disease even under cholestatic stress, and MYO5B was shown to regulate brush border targeting of the membrane mucin MUC17.

    Evidence CRISPR liver-specific Myo5b KO mice with adenoviral delivery of mutant MYO5B, dietary cholestatic stress; MYO5B KD/KO in enterocytes with confocal microscopy for MUC17

    PMID:39661054 PMID:40127562

    Open questions at the time
    • Whether gene therapy replacing mutant with WT MYO5B in liver could reverse cholestasis is untested
    • Full repertoire of MYO5B-dependent apical cargoes remains incomplete
  13. 2026 High

    A novel non-trafficking function was established: MYO5B facilitates endosome-to-mitochondria iron transfer, and its loss causes mitochondrial iron depletion, fragmentation, respiratory dysfunction, and oxidative stress—adding a metabolic dimension to MVID pathology.

    Evidence CRISPR MYO5B KO in Caco2 cells, rescue with WT versus MVID-mutant MYO5B, quantitative 3D microscopy, high-resolution respirometry, mitochondrial iron indicators

    PMID:41908891

    Open questions at the time
    • Whether mitochondrial dysfunction is clinically significant in MVID patients unknown
    • Molecular tether mediating endosome-mitochondria contact not identified
    • Whether this function is specific to MYO5B or shared with other class V myosins untested

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include: the structural basis for how motor-dead MYO5B sequesters Rab11a to produce cholestasis, the mechanism of cargo selectivity at recycling endosomes, whether mitochondrial iron transfer deficiency contributes to clinical MVID, and whether therapeutic strategies can differentially address gain-of-function (cholestasis) versus loss-of-function (MVID) pathology.
  • No structural model of MYO5B–Rab11a complex exists
  • Cargo sorting mechanism at recycling endosomes undefined
  • In vivo relevance of endosome-mitochondria iron transfer not established

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0003774 cytoskeletal motor activity 4 GO:0098772 molecular function regulator activity 2 GO:0140657 ATP-dependent activity 1
Localization
GO:0031410 cytoplasmic vesicle 6 GO:0005768 endosome 2 GO:0005856 cytoskeleton 2 GO:0005829 cytosol 1
Pathway
R-HSA-5653656 Vesicle-mediated transport 8 R-HSA-9609507 Protein localization 5 R-HSA-1643685 Disease 4 R-HSA-382551 Transport of small molecules 2
Partners
RAB11ARAB11BRAB11FIP2RAB8ASTX3SYTL4UNC45AVAMP7
Complex memberships
Rab11a–Rab11-FIP2–MYO5B tripartite complexSlp4a–Munc18-2–Vamp7–MYO5B exocytic complex

Evidence

Reading pass · 18 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2008 Loss-of-function mutations in MYO5B (encoding myosin Vb motor protein) cause microvillus inclusion disease, characterized by loss of apical microvilli on enterocytes, intracellular microvillus inclusions, and mislocalization of transferrin receptor, demonstrating MYO5B is required for apical and basolateral protein trafficking in polarized epithelial cells. Homozygosity mapping, mutation identification in patients, fluorescence microscopy of patient enterocytes showing mislocalized transferrin receptor Nature genetics High 18724368
2010 MYO5B siRNA knockdown in polarized CaCo-2 cells recapitulates MVID phenotype: loss of surface microvilli, increased microvillus inclusions, and subapical enrichment of PAS-positive endomembrane compartments, confirming loss-of-function as the disease mechanism. siRNA knockdown, fluorescence microscopy, Western blotting, electron microscopy in polarized CaCo-2 cells Human mutation High 20186687
2011 MYO5B acts as an effector for Rab8a, Rab10, and Rab11a GTPases; specific point mutations in the MYO5B tail domain (Q1300L and Y1307C) abolish Rab8a binding, while Y1714E and Q1748R mutations abolish Rab11a binding. Rab11a–MYO5B association is required for transferrin recycling in non-polarized cells, while both Rab8a and Rab11a associations are required for apical membrane trafficking and de novo lumen formation in polarized epithelial cysts. Site-directed mutagenesis of MYO5B tail domain, dominant-negative expression, transferrin recycling assay, 3D cyst culture system, co-immunoprecipitation Proceedings of the National Academy of Sciences of the United States of America High 21282656
2013 In bladder umbrella cells, MYO5B works in association with a Rab11a–Rab8a module to promote stretch-induced regulated exocytosis of discoidal/fusiform-shaped vesicles, likely by facilitating transit of vesicles through a subapical cortical actin cytoskeleton before fusion. Live cell imaging, dominant-negative expression of Myo5B, stretch-induced exocytosis assay, co-localization studies in umbrella cells Molecular biology of the cell Medium 23389633
2014 A tripartite complex of Rab11a, Rab11-FIP2, and MYO5B regulates recycling endosome trafficking; point mutations S229P or G233E in Rab11-FIP2 disrupt its interaction with MYO5B, and perturbation of this interaction increases Rab11a-vesicle speed and track length, consistent with MYO5B tethering vesicles to the cytoskeleton. Random mutagenesis, yeast two-hybrid, co-immunoprecipitation in HeLa cells, live cell imaging of Rab11a vesicle dynamics, Rab11-FIP2 knockdown Traffic High 24372966
2014 In hepatocytes, MYO5B and RAB11A together regulate the apical recycling endosome pathway required for targeting bile salt export pump (BSEP) to the canalicular membrane; MYO5B mutations in MVID patients lead to cytoplasmic mislocalization of MYO5B, RAB11A, and BSEP in hepatocytes, causing cholestasis. Immunohistochemistry of liver biopsies from MVID patients, electron microscopy of bile canaliculi ultrastructure Hepatology Medium 24375397
2015 MYO5B mediates selective apical cargo exocytosis in polarized epithelial cells through an interaction cascade: Rab11 recruits MYO5B, which associates with Slp4a, Munc18-2, and Vamp7 to drive fusion with Syntaxin 3 (Stx3). This pathway is required for apical delivery of NHE3, CFTR, and GLUT5, but not for brush border enzymes DPPIV and sucrase-isomaltase. CRISPR/Cas9 genome editing to introduce patient MYO5B mutation in human epithelial cells, co-immunoprecipitation, live imaging, immunofluorescence of cargo trafficking The Journal of cell biology High 26553929
2016 MYO5B knockout in mice causes loss of apical transporters (NHE3, SGLT1, alkaline phosphatase, sucrase isomaltase) and formation of microvillus inclusions specifically in duodenal enterocytes (not ileum), revealing an unrecognized apical membrane trafficking pathway present only in neonatal duodenum. The diarrheal pathology is due to deficits in transporter presentation at the apical membrane. Germline KO and tissue-specific conditional KO mouse models (VillinCre;MYO5BF/F and tamoxifen-inducible VillinCreERT2;MYO5BF/F), immunostaining, electron microscopy Cellular and molecular gastroenterology and hepatology High 27019864
2018 Loss of MYO5B causes selective mislocalization of apical sodium/water transporters (NHE3, SGLT1, DRA, AQP7) to subapical compartments while CFTR trafficking to the apical membrane is largely MYO5B-independent, explaining the secretory diarrhea mechanism: decreased sodium absorption combined with maintained chloride secretion. MYO5B KO and inducible intestine-specific KO mice, Ussing chamber electrophysiology, immunostaining, immunoelectron microscopy, enteroid cultures, patient duodenal biopsies Gastroenterology High 30144427
2019 Loss of MYO5B causes redistribution of chloride channels from the cell periphery to late endosomes in a chloride channel-sensitive manner, leading to formation of giant late endosomes that physically hinder mitotic spindle orientation, causing cell delamination. Rab7 availability is a limiting factor for giant late endosome formation, and increasing Rab7 corrects spindle misorientation. MYO5B knockdown/KO in epithelial cell lines, live cell imaging of mitosis, spindle orientation quantification, rescue with Rab7 overexpression, chloride channel inhibitor treatment PLoS biology Medium 31682603
2020 The cholestasis-associated MYO5B motor domain missense mutation P660L causes intracellular accumulation of bile canalicular proteins, not through loss of function but through a gain-of-toxic-function: motor domain-deficient myoVb inhibits formation of specialized apical recycling endosomes at the trans-Golgi Network/recycling endosome interface in a manner dependent on interaction with active Rab11a. Complete knockout of MYO5B does not cause canalicular localization defects. MYO5B KO (CRISPR) and patient mutation knock-in in hepatocellular cell lines, additional MYO5B and Rab11a mutant constructs, immunofluorescence of canalicular proteins, liver-specific KO mouse Hepatology High 31750554
2021 MYO5B loss induces a Wnt/Notch signaling imbalance in intestinal epithelial cells: Wnt ligand transcripts are downregulated while Notch signaling is maintained, leading to impaired progenitor cell differentiation with reduction in tuft cells and expansion of Paneth cells. Notch inhibition with dibenzazepine restores secretory cell populations. Inducible intestinal MYO5B KO mice, digital image analysis of cell populations, organoid cultures, RNA-sequencing, Notch inhibitor treatment, LPA treatment JCI insight Medium 34197342
2022 UNC45A (a myosin co-chaperone) is required for myosin Vb (MYO5B) protein expression; depletion of UNC45A in intestinal and hepatic cells reduces MYO5B protein levels and disrupts two MYO5B-dependent processes: RAB11A-positive recycling endosome positioning and microvilli development. Reintroduction of either UNC45A or MYO5B restores these processes. CRISPR-Cas9 KO of UNC45A, site-directed mutagenesis, Western blotting, confocal fluorescence microscopy, scanning electron microscopy in intestinal epithelial and hepatocellular cell lines Cellular and molecular gastroenterology and hepatology High 35421597
2022 MYO5B directly binds Rab11b-GTP (but not Rab11b-GDP) and transports fibronectin-containing vesicles in pleural mesothelial cells; Rab11b-GTP activates the actin-activated ATPase activity of MYO5B. TGF-β promotes Rab11b-GTP formation and MYO5B–Rab11b–FN1 co-association. MYO5B or Rab11b knockdown attenuates fibronectin secretion without altering expression. Co-immunoprecipitation, siRNA knockdown, live cell imaging of co-moving MYO5B/FN1 vesicles, actin-activated ATPase assay, Western blotting International journal of molecular sciences High 35563212
2013 MYO5B is epigenetically silenced in gastric cancer cells by aberrant DNA methylation and histone H3 methylation at its promoter CpG island. In gastric cancer cells expressing endogenous MYO5B, its knockdown inhibits HGF-stimulated MET receptor degradation, resulting in sustained c-MET levels and signaling. Methylation-specific PCR, bisulfite sequencing, ChIP assay, treatment with demethylating agent and HDAC inhibitor, siRNA knockdown with c-MET signaling readout Digestive diseases and sciences Medium 23456500
2025 MYO5B (along with MYO1B and SNX27) regulates apical targeting of the membrane mucin MUC17 to the enterocyte brush border; MYO5B specifically governs MUC17 levels at the brush border without affecting overall MUC17 protein levels in enterocytes. Knockdown/KO studies in enterocytes, confocal fluorescence microscopy, biochemical fractionation The Biochemical journal Medium 39661054
2025 Expression of the MYO5B-p.(Arg824Cys) missense variant (but not loss of Myo5b expression) in mouse liver induces cholestasis with altered BSEP localization, demonstrating a toxic gain-of-function mechanism for MYO5B motor domain variants in MYO5B-associated PFIC; liver-specific Myo5b KO mice do not develop cholestatic liver disease even under dietary cholestatic stress. CRISPR/Cas9 liver-specific Myo5b KO mice, adenoviral delivery of MYO5B-p.(Arg824Cys) variant, dietary cholestatic stress (cholic acid and DDC), serum biochemistry, liver histology, BSEP immunostaining Biochemical and biophysical research communications High 40127562
2026 MYO5B deficiency impairs endosome-to-mitochondria iron transfer: MYO5B-positive endosomes carrying transferrin (iron-loaded) are in close association with mitochondria, and loss of MYO5B reduces these contacts, causing reduced mitochondrial iron content, endosomal iron accumulation, mitochondrial fragmentation, reduced membrane potential, defective aerobic respiration, and increased oxidative stress. Reintroduction of full-length MYO5B (but not MVID-causing mutants) restores mitochondrial membrane potential. CRISPR-Cas9 MYO5B KO in Caco2 cells, site-directed mutagenesis of MYO5B, quantitative 3D fluorescence microscopy, fluorescent indicators of mitochondrial membrane potential and iron, high-resolution respirometry, carbonylated protein analysis from isolated mitochondria Gastroenterology report High 41908891

Source papers

Stage 0 corpus · 51 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2008 MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nature genetics 290 18724368
2011 Rab GTPase-Myo5B complexes control membrane recycling and epithelial polarization. Proceedings of the National Academy of Sciences of the United States of America 169 21282656
2016 MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease. Hepatology (Baltimore, Md.) 110 27532546
2010 Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. Human mutation 103 20186687
2014 MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease. Hepatology (Baltimore, Md.) 89 24375397
2015 Cargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3. The Journal of cell biology 83 26553929
2008 Navajo microvillous inclusion disease is due to a mutation in MYO5B. American journal of medical genetics. Part A 78 19006234
2016 Loss of MYO5B in mice recapitulates Microvillus Inclusion Disease and reveals an apical trafficking pathway distinct to neonatal duodenum. Cellular and molecular gastroenterology and hepatology 68 27019864
2013 An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations. Human mutation 57 24014347
2018 Loss of MYO5B Leads to Reductions in Na+ Absorption With Maintenance of CFTR-Dependent Cl- Secretion in Enterocytes. Gastroenterology 56 30144427
2014 Rab11-FIP2 interaction with MYO5B regulates movement of Rab11a-containing recycling vesicles. Traffic (Copenhagen, Denmark) 56 24372966
2013 A Rab11a-Rab8a-Myo5B network promotes stretch-regulated exocytosis in bladder umbrella cells. Molecular biology of the cell 53 23389633
2018 MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update. Human mutation 51 29266534
2021 Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations. Journal of clinical medicine 42 33525641
2020 A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations. Hepatology (Baltimore, Md.) 41 31750554
2012 MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome. Journal of pediatric gastroenterology and nutrition 37 22441677
2020 Lysophosphatidic Acid Increases Maturation of Brush Borders and SGLT1 Activity in MYO5B-deficient Mice, a Model of Microvillus Inclusion Disease. Gastroenterology 36 32534933
2011 Inactivation of MYO5B promotes invasion and motility in gastric cancer cells. Digestive diseases and sciences 33 22134786
2013 MYO5B is epigenetically silenced and associated with MET signaling in human gastric cancer. Digestive diseases and sciences 24 23456500
2021 Cell differentiation is disrupted by MYO5B loss through Wnt/Notch imbalance. JCI insight 23 34197342
2020 MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression. PLoS genetics 22 32511227
2022 A Functional Relationship Between UNC45A and MYO5B Connects Two Rare Diseases With Shared Enteropathy. Cellular and molecular gastroenterology and hepatology 14 35421597
2022 Altered MYO5B Function Underlies Microvillus Inclusion Disease: Opportunities for Intervention at a Cellular Level. Cellular and molecular gastroenterology and hepatology 12 35660026
2019 Loss of MYO5B expression deregulates late endosome size which hinders mitotic spindle orientation. PLoS biology 12 31682603
2021 Advanced Microscopy for Liver and Gut Ultrastructural Pathology in Patients with MVID and PFIC Caused by MYO5B Mutations. Journal of clinical medicine 11 33924896
2025 MYO5B and the Polygenic Landscape of Very Early-Onset Inflammatory Bowel Disease in an Ethnically Diverse Population. Inflammatory bowel diseases 7 39096520
2022 MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype. Journal of pediatric gastroenterology and nutrition 7 35129155
2022 Myo5b Transports Fibronectin-Containing Vesicles and Facilitates FN1 Secretion from Human Pleural Mesothelial Cells. International journal of molecular sciences 7 35563212
2018 Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene. Clinical case reports 6 30564347
2017 [Clinical features and MYO5B mutations of a family affected by microvillus inclusion disease]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 6 28899465
2024 Alterations in cellular metabolic pathway and epithelial cell maturation induced by MYO5B defects are partially reversible by LPAR5 activation. American journal of physiology. Gastrointestinal and liver physiology 4 39404772
2023 Microvillus Inclusion Disease Caused by MYO5B: Different Presentation and Phenotypes Despite Same Mutation. JPGN reports 4 37200712
2025 A liver-specific mouse model for MYO5B-associated cholestasis reveals a toxic gain-of-function as underlying disease mechanism. Biochemical and biophysical research communications 3 40127562
2025 iPSC-based hepatic organoids reveal a heterozygous MYO5B variant as driver of intrahepatic cholestasis. Hepatology communications 3 41021273
2022 Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea. Frontiers in genetics 3 35706451
2021 Compound Heterozygous Myosin 5B (Myo5b) Mutation with Early Onset Progressive Cholestasis and No Intestinal Failure. Fetal and pediatric pathology 3 34338607
2024 MYO5B gene mutations may promote the occurrence of very early onset inflammatory bowel disease: a case report. BMC medical genomics 2 39014344
2024 An Adult Case of Benign Recurrent Intrahepatic Cholestasis Due to MYO5B Deficiency. The Tokai journal of experimental and clinical medicine 2 39182182
2021 A Novel Homozygous Mutation in the MYO5B Gene Associated With Normal-Gamma-Glutamyl Transferase Progressive Familial Intrahepatic Cholestasis. Cureus 2 34900494
2023 The MYO1B and MYO5B motor proteins and the SNX27 sorting nexin regulate membrane mucin MUC17 trafficking in enterocytes. bioRxiv : the preprint server for biology 1 36945389
2026 MYO5B Deficiency-Associated Cholestasis and the Role of the Bile Salt Export Pump. Cells 0 41511375
2026 Inhibition of Breast Cancer Bone Metastasis by LRP5-Overexpressing Osteocytes via the LIMA1/MYO5B Signaling Axis. International journal of molecular sciences 0 41596426
2026 Microvillus inclusion disease-associated MYO5B deficiency impairs endosome-to-mitochondrion iron transfer. Gastroenterology report 0 41908891
2025 The MYO1B and MYO5B motor proteins and the sorting nexin SNX27 regulate apical targeting of membrane mucin MUC17 in enterocytes. The Biochemical journal 0 39661054
2025 Case Report: A rare case of familial progressive cholestasis type 10 in an adult with heterozygous MYO5B variant. Frontiers in gastroenterology (Lausanne, Switzerland) 0 41822262
2024 [Analysis of a child with Microvillus inclusion disease due to variants of MYO5B gene and a literature review]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 38448026
2024 Myo5B plays a significant role in the hyphal growth and virulence of the human pathogenic fungus Mucor lusitanicus. Microbiology (Reading, England) 0 39073411
2024 Altered cellular metabolic pathway and epithelial cell maturation induced by MYO5B defects are partially reversible by LPAR5 activation. bioRxiv : the preprint server for biology 0 39282272
2023 Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase Cholestasis. Human mutation 0 40225142
2022 Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry. Cold Spring Harbor molecular case studies 0 34815247
2022 Compound Heterozygous MYO5B Mutation, a Cause of Infantile Cholestasis: A Case Report. JNMA; journal of the Nepal Medical Association 0 36705120