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Mitochondrial protein alterations in a familial peripheral neuropathy caused by the V144D amino acid mutation in the sphingolipid protein, SPTLC1

Axonal degeneration is the final common path in many neurological disorders. Subsets of neuropathies involving the sensory neuron are known as hereditary sensory neuropathies (HSNs). Hereditary sensory neuropathy type I (HSN-I) is the most common subtype of HSN with autosomal dominant inheritance. I...

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Bibliografski detalji
Izdano u:J Chem Biol
Glavni autori: Stimpson, Scott E., Coorssen, Jens R., Myers, Simon J.
Format: Artigo
Jezik:Inglês
Izdano: Springer Berlin Heidelberg 2014
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4286568/
https://ncbi.nlm.nih.gov/pubmed/25584079
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12154-014-0125-x
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