The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy-Reference-Cited by-同舟云学术

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The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy

Published:2015-11-16 Issue:1 Volume:18 Page:81-90
ISSN:1535-1084
Container-title:NeuroMolecular Medicine
language:en
Short-container-title:Neuromol Med

Author:

Suriyanarayanan Saranya,Auranen Mari,Toppila Jussi,Paetau Anders,Shcherbii Maria,Palin Eino,Wei Yu,Lohioja Tarja,Schlotter-Weigel Beate,Schön Ulrike,Abicht Angela,Rautenstrauss Bernd,Tyynismaa Henna,Walter Maggie C.,Hornemann Thorsten,Ylikallio Emil

Funder

Helsingin ja Uudenmaan Sairaanhoitopiiri (FI)

Sigrid Juséliuksen Säätiö (FI)

Helsingin Yliopisto (FI)

Suomen Akatemia (FI)

Seventh Framework Programme (BE)

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12017-015-8379-1.pdf

Reference28 articles.

1. Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., et al. (2010). A method and server for predicting damaging missense mutations. Nature Methods, 7, 248–249. doi: 10.1038/nmeth0410-248 .

2. Bejaoui, K., Wu, C., Scheffler, M. D., Haan, G., Ashby, P., Wu, L., et al. (2001). SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nature Genetics, 27, 261–262. doi: 10.1038/85817 .

3. Dawkins, J. L., Hulme, D. J., Brahmbhatt, S. B., Auer-Grumbach, M., & Nicholson, G. A. (2001). Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nature Genetics, 27, 309–312. doi: 10.1038/85879 .

4. Ernst, D., Murphy, S. M., Sathiyanadan, K., Wei, Y., Othman, A., Laura, M., et al. (2015). Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity. NeuroMolecular Medicine, 17, 47–57. doi: 10.1007/s12017-014-8339-1 .

5. Fridman, V., Oaklander, A. L., David, W. S., Johnson, E. A., Pan, J., Novak, P., et al. (2015). Natural history and biomarkers in hereditary sensory neuropathy type 1. Muscle and Nerve, 51, 489–495. doi: 10.1002/mus.24336 .

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