Llwytho...

Increased lipid droplet accumulation associated with a peripheral sensory neuropathy

Hereditary sensory neuropathy type 1 (HSN-1) is an autosomal dominant neurodegenerative disease caused by missense mutations in the SPTLC1 gene. The SPTLC1 protein is part of the SPT enzyme which is a ubiquitously expressed, critical and thus highly regulated endoplasmic reticulum bound membrane enz...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Marshall, Lee L., Stimpson, Scott E., Hyland, Ryan, Coorssen, Jens R., Myers, Simon J.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer Berlin Heidelberg 2014
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3976696/
https://ncbi.nlm.nih.gov/pubmed/24711860
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12154-014-0108-y
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