240 – Role of Myosin Vb in Trafficking of Apical Membrane Proteins in Hepatocytes

Engevik, Amy C.; Coutts, Alex; LeBlanc, Colleen; Saqui‐Salces, Milena; Kaji, Izumi; Carlson, Daniel F.; Melkamu, Tamene; Goldenring, James R.

doi:10.1016/s0016-5085(19)39933-0

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“…Specifically, multidrug resistance associated protein-2 (MRP2) and BSEP were mislocalized to subapical compartments. In addition, dipeptidyl peptidase-4 (DPPIV) enzyme was mistrafficked and the liver bile canaliculi lacked branching, highlighting the importance of MYO5B in studying liver dysfunction associated with MVID patients 49 .…”

Section: Extraintestinal Manifestations In Microvillus Inclusion Diseasementioning

confidence: 99%

Recent advances in understanding and managing malabsorption: focus on microvillus inclusion disease

et al. 2019

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Microvillus inclusion disease (MVID) is a rare congenital severe malabsorptive and secretory diarrheal disease characterized by blunted or absent microvilli with accumulation of secretory granules and inclusion bodies in enterocytes. The typical clinical presentation of the disease is severe chronic diarrhea that rapidly leads to dehydration and metabolic acidosis. Despite significant advances in our understanding of the causative factors, to date, no curative therapy for MVID and associated diarrhea exists. Prognosis mainly relies on life-long total parenteral nutrition (TPN) and eventual small bowel and/or liver transplantation. Both TPN and intestinal transplantation are challenging and present with many side effects. A breakthrough in the understanding of MVID emanated from seminal findings revealing mutations in MYO5B as a cause for MVID. During the last decade, many studies have thus utilized cell lines and animal models with knockdown of MYO5B to closely recapitulate the human disease and investigate potential therapeutic options in disease management. We will review the most recent advances made in the research pertaining to MVID. We will also highlight the tools and models developed that can be utilized for basic and applied research to increase our understanding of MVID and develop novel and effective targeted therapies.

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Section: Extraintestinal Manifestations In Microvillus Inclusion Diseasementioning

confidence: 99%

Recent advances in understanding and managing malabsorption: focus on microvillus inclusion disease

et al. 2019

View full text Add to dashboard Cite

show abstract

240 – Role of Myosin Vb in Trafficking of Apical Membrane Proteins in Hepatocytes

Cited by 1 publication

References 0 publications

Recent advances in understanding and managing malabsorption: focus on microvillus inclusion disease

Recent advances in understanding and managing malabsorption: focus on microvillus inclusion disease

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