A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C-Reference-Cited by-同舟云学术

A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C

Published:2019-04-06 Issue:2 Volume:21 Page:182-191
ISSN:1535-1084
Container-title:NeuroMolecular Medicine
language:en
Short-container-title:Neuromol Med

Author:

Suriyanarayanan Saranya^ORCID,Othman Alaa,Dräger Bianca,Schirmacher Anja,Young Peter,Mulahasanovic Lejla,Hörtnagel Konstanze,Biskup Saskia,von Eckardstein Arnold,Hornemann Thorsten,Lone Museer A.

Funder

7th Framework Program of the European Commission

the Swiss National Foundation-SNF

the Rare Disease Initiative Zurich (“radiz,”), University of Zurich

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12017-019-08534-w.pdf

Reference31 articles.

1. Auer-Grumbach, M. (2013). Hereditary sensory and autonomic neuropathies. Handbook of Clinical Neurology, 115, 893–906. https://doi.org/10.1016/b978-0-444-52902-2.00050-3 .

2. Auer-Grumbach, M., Bode, H., Pieber, T. R., Schabhuttl, M., Fischer, D., Seidl, R., et al. (2013). Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype. European Journal of Medical Genetics, 56(5), 266–269. https://doi.org/10.1016/j.ejmg.2013.02.002 .

3. Auranen, M., Toppila, J., Suriyanarayanan, S., Lone, M. A., Paetau, A., Tyynismaa, H., et al. (2017). Clinical and metabolic consequences of l-serine supplementation in hereditary sensory and autonomic neuropathy type 1C. Cold Spring Harbor Molecular Case Studies. https://doi.org/10.1101/mcs.a002212 .

4. Bode, H., Bourquin, F., Suriyanarayanan, S., Wei, Y., Alecu, I., Othman, A., et al. (2016). HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship. Human Molecular Genetics, 25(5), 853–865. https://doi.org/10.1093/hmg/ddv611 .

5. Breslow, D. K., Collins, S. R., Bodenmiller, B., Aebersold, R., Simons, K., Shevchenko, A., et al. (2010). Orm family proteins mediate sphingolipid homeostasis. Nature, 463, 1048–1053. https://doi.org/10.1038/nature08787 .

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