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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...
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| Hlavní autoři: | , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Springer Berlin Heidelberg
2014
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| Témata: | |
| On-line přístup: | 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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