Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
April 9, 2018Human Molecular GeneticsOpen Access

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20

View Full Paper
Ask AI
Bookmark
Share

Authors

DBDale BryantThe Francis Crick InstituteYLYang LiuWannan Medical CollegeSDSanchari DattaBroad Institute

Discussion

Loading...

Member takes

Overview

Key Points

Key points are not available for this paper at this time.

Cite This Study

Bryant et al. (2018) studied this question.

synapsesocial.com/papers/6a5e2bc970eb43e754d8ace2https://doi.org/10.1093/hmg/ddy101
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Clinical exome sequencing: results from 2819 samples reflecting 1000 families2016 · 381 citations
  2. 2The intracellular transport of low density lipoprotein-derived cholesterol is inhibited in Chinese hamster ovary cells cultured with 3-β-[2-(diethylamino)ethoxy]androst-5-en-17-one1989 · 325 citations
  3. 3Patterned Purkinje cell degeneration in mouse models of Niemann‐Pick type C disease2003 · 229 citations
  4. 4Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.2015 · 11 citations
  5. 5A large family of endosome-localized proteins related to sorting nexin 12001 · 155 citations