Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus-Reference-Cited by-同舟云学术

Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

Published:2013-09 Issue:3 Volume:93 Page:579-586
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Cacciagli Pierre,Sutera-Sardo Julie,Borges-Correia Ana,Roux Jean-Christophe,Dorboz Imen,Desvignes Jean-Pierre,Badens Catherine,Delepine Marc,Lathrop Mark,Cau Pierre,Lévy Nicolas,Girard Nadine,Sarda Pierre,Boespflug-Tanguy Odile,Villard Laurent

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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5. Bap31 is an itinerant protein that moves between the peripheral endoplasmic reticulum (ER) and a juxtanuclear compartment related to ER-associated Degradation;Wakana;Mol. Biol. Cell,2008

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