Associated Papers
Effect of Brief Electrical Stimulation on Cell Biomechanics in Hereditary Sensory Neuropathy.
Ta D et al.
Small (weinheim an Der Bergstrasse, Germany), 2025
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.
Stump AL et al.
Biomolecules, 2023
Ciliogenesis requires sphingolipid-dependent membrane and axoneme interaction.
Wu D et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Calcium-Mediated Calpain Activation and Microtubule Dissociation in Cell Model of Hereditary Sensory Neuropathy Type-1 Expressing V144D SPTLC1 Mutation.
Antony A et al.
Dna and Cell Biology, 2022
An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions.
Clark AJ et al.
Cell Reports. Medicine, 2021
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Mohassel P et al.
Nature Medicine, 2021
The Complex Clinical and Genetic Landscape of Hereditary Peripheral Neuropathy.
Ghosh S et al.
Annual Review of Pathology, 2021
Screening for genetic mutations in patients with neuropathy without definite etiology is useful.
Vogt B et al.
Journal of Neurology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.
Suriyanarayanan S et al.
Neuromolecular Medicine, 2019
Sphingolipid-dependent Dscam sorting regulates axon segregation.
Goyal G et al.
Nature Communications, 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
V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I.
Ho KWD et al.
Case Reports in Genetics, 2018
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
Identification of dietary alanine toxicity and trafficking dysfunction in a Drosophila model of hereditary sensory and autonomic neuropathy type 1.
Oswald MC et al.
Human Molecular Genetics, 2015
Mitochondrial protein alterations in a familial peripheral neuropathy caused by the V144D amino acid mutation in the sphingolipid protein, SPTLC1.
Stimpson SE et al.
Journal of Chemical Biology, 2015
Mutations in the SPTLC1 protein cause mitochondrial structural abnormalities and endoplasmic reticulum stress in lymphoblasts.
Myers SJ et al.
Dna and Cell Biology, 2014
Increased lipid droplet accumulation associated with a peripheral sensory neuropathy.
Marshall LL et al.
Journal of Chemical Biology, 2014
Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.
Suh BC et al.
Molecular Medicine Reports, 2014
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.
Auer-Grumbach M et al.
European Journal of Medical Genetics, 2013
Topological and functional characterization of the ssSPTs, small activating subunits of serine palmitoyltransferase.
Harmon JM et al.
The Journal of Biological Chemistry, 2013
Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.
Garofalo K et al.
The Journal of Clinical Investigation, 2011
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.
Rotthier A et al.
American Journal of Human Genetics, 2010
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.
Penno A et al.
The Journal of Biological Chemistry, 2010
Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1.
Eichler FS et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2009
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
Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase.
Hornemann T et al.
The Journal of Biological Chemistry, 2006
Recent advances in hereditary sensory and autonomic neuropathies.
Verhoeven K et al.
Current Opinion in Neurology, 2006
Disease mechanisms in hereditary sensory and autonomic neuropathies.
Verpoorten N et al.
Neurobiology of Disease, 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 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies.
Klein CJ et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2005
Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies.
Geraldes R et al.
Journal of the Neurological Sciences, 2004
Hereditary sensory neuropathies.
Houlden H et al.
Current Opinion in Neurology, 2004
SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.
Verhoeven K et al.
Neurology, 2004
Activity of partially inhibited serine palmitoyltransferase is sufficient for normal sphingolipid metabolism and viability of HSN1 patient cells.
Dedov VN et al.
Biochimica Et Biophysica Acta, 2004
Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis.
Bejaoui K et al.
The Journal of Clinical Investigation, 2002
Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase.
Gable K et al.
The Journal of Biological Chemistry, 2002
Molecular basis of hereditary neuropathies.
Watts GD et al.
Advances in Neurology, 2002
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.
Dawkins JL et al.
Nature Genetics, 2001