A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review-Reference-Cited by-同舟云学术

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A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review

Published:2022-11 Issue:11 Volume:65 Page:104608
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Zhu Ze-yu,Li Zi-yi,Zhang Chao,Liu Xiao-li,Tian Wo-tu,Cao Li

Funder

National Natural Science Foundation of China

Health and Family Planning Commission of Sichuan Province

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference20 articles.

1. A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18);Alazami;Neurogenetics,2011

2. Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER;Browman;J. Cell Sci.,2006

3. Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics;Fagerberg;Mol. Cell. Proteomics,2014

4. Erlins restrict SREBP activation in the ER and regulate cellular cholesterol homeostasis;Huber;J. Cell Biol.,2013

5. Raft-like lipid microdomains drive autophagy initiation via AMBRA1-ERLIN1 molecular association within MAMs;Manganelli;Autophagy,2020

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