Condition: Hereditary Sensory Autonomic Neuropathy, Type 1


rs119482081 in SPTLC1 gene and Hereditary Sensory Autonomic Neuropathy, Type 1 PMID 20097765 2010 Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.

PMID 26681808 2016 HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.

PMID 19132419 2009 A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.

PMID 12417569 2002 Although in HSN1 lymphoblasts, the C133Y and C133W mutations do not alter the steady-state levels of LCB1 and LCB2 subunits, they result in reduced SPT activity and sphingolipid synthesis.

PMID 18018475 2007 Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.

PMID 11242114 2001 Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.

PMID 11242106 2001 SPTLC1 is mutated in hereditary sensory neuropathy, type 1.

PMID 22302274 2012 Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.

PMID 16210380 2005 Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy.

PMID 19923297 2009 Rather, the presence of two newly identified, potentially deleterious deoxysphingoid bases in the tgSPTLC1(C133W), but not in the wild-type, double-transgenic tgSPTLC1(WT + C133W) or SPTLC1(+/-) mice, suggests that the HSAN1 mutations alter amino acid selectivity of the SPT enzyme such that palmitate is condensed with alanine and glycine, in addition to serine.

PMID 16364956 2006 Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).

PMID 24673574 2014 Mutations in the SPTLC1 protein cause mitochondrial structural abnormalities and endoplasmic reticulum stress in lymphoblasts.

PMID 25584079 2015 Mitochondrial protein alterations in a familial peripheral neuropathy caused by the V144D amino acid mutation in the sphingolipid protein, SPTLC1.

PMID 19651702 2009 Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

PMID 24247255 2014 In this report we discussed an HSAN I patient with a missense mutation in SPTLC1 (c.992C>T: p.S331F).

PMID 20504773 2010 A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity.

PMID 30420926 2018 V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I.

PMID 21618344 2011 Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.

PMID 23454272 2013 Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.

PMID 24247255 2014 Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.