Literature DB >> 11242106

SPTLC1 is mutated in hereditary sensory neuropathy, type 1.

K Bejaoui1, C Wu, M D Scheffler, G Haan, P Ashby, L Wu, P de Jong, R H Brown.   

Abstract

Hereditary sensory neuropathy type 1 (HSN1, MIM 162400; ref. 1) genetically maps to human chromosome 9q22 (refs. 2-4). We report here that the gene encoding a subunit of serine palmitoyltransferase is located within the HSN1 locus, expressed in dorsal root ganglia (DRG) and mutated in HSN1.

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Year:  2001        PMID： 11242106     DOI： 10.1038/85817

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  89 in total

1.  A potential novel variant of hereditary sensory neuropathy in a 61-year-old man with cough-induced syncope and vertebral artery dissection.

Authors:  Emil Lou; Stephan Züchner; Jeffery Vance; Joel Morgenlander
Journal:  Mayo Clin Proc       Date:  2010-06       Impact factor: 7.616

2.  A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity.

Authors:  Kenneth Gable; Sita D Gupta; Gongshe Han; Somashekarappa Niranjanakumari; Jeffrey M Harmon; Teresa M Dunn
Journal:  J Biol Chem       Date:  2010-05-26       Impact factor: 5.157

3.  A Model of Hereditary Sensory and Autonomic Neuropathy Type 1 Reveals a Role of Glycosphingolipids in Neuronal Polarity.

Authors:  Mengqiao Cui; Rong Ying; Xue Jiang; Gang Li; Xuanjun Zhang; Jun Zheng; Kin Yip Tam; Bin Liang; Anbing Shi; Verena Göbel; Hongjie Zhang
Journal:  J Neurosci       Date:  2019-05-28       Impact factor: 6.167

Review 4.  Mechanisms of disease in hereditary sensory and autonomic neuropathies.

Authors:  Annelies Rotthier; Jonathan Baets; Vincent Timmerman; Katrien Janssens
Journal:  Nat Rev Neurol       Date:  2012-01-24       Impact factor: 42.937

5.  Functional characterization of the promoter for the mouse SPTLC2 gene, which encodes subunit 2 of serine palmitoyltransferase.

Authors:  Stephen C Linn; Lindsay M Andras; Hee-Sook Kim; Jia Wei; M Marek Nagiec; Robert C Dickson; Alfred H Merrill
Journal:  FEBS Lett       Date:  2006-10-19       Impact factor: 4.124

6.  An improved method to determine serine palmitoyltransferase activity.

Authors:  Markus F Rütti; Stéphane Richard; Anke Penno; Arnold von Eckardstein; Thorsten Hornemann
Journal:  J Lipid Res       Date:  2009-01-29       Impact factor: 5.922

Review 7.  Progress in peripheral nerve disease research in the last two years.

Authors:  Matthew Evans; Hadi Manji
Journal:  J Neurol       Date:  2013-10-25       Impact factor: 4.849

Review 8.  Not all neuropathy in diabetes is of diabetic etiology: differential diagnosis of diabetic neuropathy.

Authors:  Roy Freeman
Journal:  Curr Diab Rep       Date:  2009-12       Impact factor: 4.810

9.  Transcript map of the candidate region for HSNI with cough and gastroesophageal reflux on chromosome 3p and exclusion of candidate genes.

Authors:  Cindy Kok; Marina L Kennerson; Simon J Myers; Garth A Nicholson
Journal:  Neurogenetics       Date:  2004-07-06       Impact factor: 2.660

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

Authors:  Saranya Suriyanarayanan; Mari Auranen; Jussi Toppila; Anders Paetau; Maria Shcherbii; Eino Palin; Yu Wei; Tarja Lohioja; Beate Schlotter-Weigel; Ulrike Schön; Angela Abicht; Bernd Rautenstrauss; Henna Tyynismaa; Maggie C Walter; Thorsten Hornemann; Emil Ylikallio
Journal:  Neuromolecular Med       Date:  2015-11-16       Impact factor: 3.843
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