MYO5B,STX3, andSTXBP2mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update-Reference-Cited by-同舟云学术

MYO5B,STX3, andSTXBP2mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update

Published:2018-01-17 Issue:3 Volume:39 Page:333-344
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Dhekne Herschel S.¹,Pylypenko Olena²,Overeem Arend W.¹,Ferreira Rosaria J.¹,van der Velde K. Joeri³,Rings Edmond H.H.M.⁴⁵,Posovszky Carsten⁶,Swertz Morris A.³,Houdusse Anne²,van IJzendoorn Sven C.D.¹^ORCID

Affiliation:

1. Department of Cell Biology; University of Groningen; University Medical Center Groningen; Groningen The Netherlands

2. Structural Motility; Institute Curie; Centre de Reserche; Paris France

3. Genomics Coordination Center; Department of Genetics; University Medical Center Groningen; University of Groningen; The Netherlands

4. Department of Pediatrics; Erasmus Medical Center Rotterdam; Erasmus University Rotterdam, Rotterdam, The Netherlands

5. Department of Pediatrics; Leiden University Medical Center; Leiden University; Leiden The Netherlands

6. Department of Pediatrics and Adolescent Medicine; University Medical Center Ulm; Ulm Germany

Funder

Daniel Courtney Trust Foundation

Universitair Medisch Centrum Groningen

Centre National de la Recherche Scientifique

Association pour la Recherche sur le Cancer

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference61 articles.

1. Transport and function of syntaxin 3 in human epithelial intestinal cells;Breuza;American Journal of Physiology. Cell Physiology,2000

2. Munc18a controls SNARE assembly through its interaction with the syntaxin N-peptide;Burkhardt;The EMBO Journal,2008

3. Myo5b knockout mice as a model of microvillus inclusion disease;Cartón-García;Scientific Reports,2015

4. Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family;Chograni;Clinical Genetics,2015

5. Syntaxin1a variants lacking an N-peptide or bearing the LE mutation bind to Munc18a in a closed conformation;Colbert;Proceedings of the National Academy of Sciences of the United States of America,2013

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