Functional Mutation Analysis Provides Evidence for a Role of REEP1 in Lipid Droplet Biology-Reference-Cited by-同舟云学术

Functional Mutation Analysis Provides Evidence for a Role of REEP1 in Lipid Droplet Biology

Published:2014-03-05 Issue:4 Volume:35 Page:497-504
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Falk Julia¹,Rohde Magdalena¹,Bekhite Mohamed M.²,Neugebauer Sophie¹,Hemmerich Peter³,Kiehntopf Michael¹,Deufel Thomas¹,Hübner Christian A.⁴,Beetz Christian¹

Affiliation:

1. Department of Clinical Chemistry and Laboratory Medicine; Jena University Hospital; Jena Germany

2. Department of Internal Medicine I, Cardiology Division, Jena University Hospital; Jena, Germany; Department of Zoology; Faculty of Science; Tanta University; Tanta Egypt

3. Leibniz Institute for Age Research; Fritz-Lipmann Institute; Jena Germany

4. Department of Human Genetics; Jena University Hospital; Jena Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22521/fullpdf

Reference31 articles.

1. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation;Auer-Grumbach;Ann Neurol,2005

2. A new paradigm for membrane-organizing and -shaping scaffolds;Bauer;FEBS Lett,2006

3. A spastic paraplegia mouse model reveals REEP1-dependent ER shaping;Beetz;J Clin Invest,2013