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Verhoeven, K., Coen, K., De Vriendt, E., Jacobs, A., Van Gerwen, V., Smouts, I., Pou-Ser- radell, A., Martin, J.J., Timmerman, V. and De Jonghe, P. (2004) SPTLC1 Mutation in Twin Sisters with Hereditary Sensory Neuropathy Type I. Neurology, 62, 1001-1002.
https://doi.org/10.1212/01.WNL.0000115388.10828.5C

has been cited by the following article:

• TITLE: Identifying Unique Protein Alterations Caused by SPTLC1 Mutations in a Transfected Neuronal Cell Model

  AUTHORS: Scott E. Stimpson, Anu Shanu, Jens R. Coorssen, Simon J. Myers

  KEYWORDS: Hereditary Sensory Neuropathy Type 1, ND15, SPTLC1, ER Stress, Coactosin

  JOURNAL NAME: World Journal of Neuroscience, Vol.6 No.4, November 30, 2016

  ABSTRACT: Hereditary sensory neuropathy type I is an autosomal dominant disorder that affects the sensory neurons. Three missense mutations in serine palmitoyltransferase long chain subunit 1 cause hereditary sensory neuropathy type I. The endoplasmic reticulum, where the serine palmitoyltransferase long chain subunit 1 protein resides, and mitochondria are both altered in hereditary sensory neuropathy type I mutant cells. Employing a transfected neuronal cell line (ND15), we have identified and confirmed altered protein expression levels of ubiquinol cytochrome C, Hypoxia Up regulated Protein 1, Chloride Intracellular Channel Protein 1, Ubiqutin-40s Ribosomal Protein S27a, and Coactosin. Additionally, further 14 new proteins that exhibited altered expression within V144D, C133W and C133Y mutants were identified. These data have shown that mutations in SPTLC1 alter the expression of a set of proteins that may help to establish a causal link between the mitochondria and ER and the “dying back” process of dorsal root ganglion neurons that occurs in HSN-I.