New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1

<i>Serine palmitoyltransferase long chain base subunit 1</i> (<i>SPTLC1</i>) encodes a serine palmitoyltransferase (SPT) resident in the endoplasmic reticulum (ER). Pathological <i>SPTLC1</i> variants cause a form of hereditary sensory and autonomic neuropathy (HS...

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Bibliographic Details
Main Authors: Heike Kölbel, Florian Kraft, Andreas Hentschel, Artur Czech, Andrea Gangfuss, Payam Mohassel, Chi Nguyen, Werner Stenzel, Ulrike Schara-Schmidt, Corinna Preuße, Andreas Roos
Format: Article
Language:English
Published: MDPI AG 2022-05-01
Series:Genes
Subjects:
<i>SPTLC1</i>
juvenile ALS
HSAN1A
proteomic profiling
serine palmitoyltransferase
Online Access:https://www.mdpi.com/2073-4425/13/5/893

Internet

https://www.mdpi.com/2073-4425/13/5/893

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