Associated Papers
A de novo c.113 T > C: p.L38R mutation of SPTLC1: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis.
Liu X et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Comprehensive Computational Analysis of Protein Phenotype Changes Due to Plausible Deleterious Variants of Human SPTLC1 Gene.
Sadaf T et al.
International Journal of Molecular and Cellular Medicine, 2019
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.
Bode H et al.
Human Molecular Genetics, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Increased lipid droplet accumulation associated with a peripheral sensory neuropathy.
Marshall LL et al.
Journal of Chemical Biology, 2014
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
Davidson G et al.
Journal of Neurology, 2012
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.
Penno A et al.
The Journal of Biological Chemistry, 2010
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
Rotthier A et al.
Brain : a Journal of Neurology, 2009
The external aldimine form of serine palmitoyltransferase: structural, kinetic, and spectroscopic analysis of the wild-type enzyme and HSAN1 mutant mimics.
Raman MCC et al.
The Journal of Biological Chemistry, 2009
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.
Hornemann T et al.
Neurogenetics, 2009
Hereditary sensory neuropathy type I.
Auer-Grumbach M
Orphanet Journal of Rare Diseases, 2008
Genetic architecture of human pain perception.
Diatchenko L et al.
Trends in Genetics : Tig, 2007
Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.
Bi H et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2007
Recent advances in hereditary sensory and autonomic neuropathies.
Verhoeven K et al.
Current Opinion in Neurology, 2006
Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).
Houlden H et al.
Brain : a Journal of Neurology, 2006
Molecular genetics of hereditary sensory neuropathies.
Auer-Grumbach M et al.
Neuromolecular Medicine, 2006
Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy.
McCampbell A et al.
Human Molecular Genetics, 2005
SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.
Verhoeven K et al.
Neurology, 2004