Associated Papers
Antisense oligonucleotides reverse SPTLC1-related hereditary sensory neuropathy in a mouse model.
Meng J et al.
Brain : a Journal of Neurology, 2025
Effect of Brief Electrical Stimulation on Cell Biomechanics in Hereditary Sensory Neuropathy.
Ta D et al.
Small (weinheim an Der Bergstrasse, Germany), 2025
Genetic Background of Macular Telangiectasia Type 2.
Kunčič A et al.
International Journal of Molecular Sciences, 2025
Advances and challenges in modeling inherited peripheral neuropathies using iPSCs.
Van Lent J et al.
Experimental & Molecular Medicine, 2024
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.
Dohrn MF et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2024
iPSC-derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function.
Eade KT et al.
The Journal of Clinical Investigation, 2023
Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family.
Wilson LMQ et al.
Genes, 2023
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
Fiorillo C et al.
Neuropathology and Applied Neurobiology, 2022
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
Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 - implications for retinal screening in HSN1.
Rodrigues FG et al.
Journal of the Peripheral Nervous System : Jpns, 2022
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies.
Yang H et al.
Trends in Molecular Medicine, 2021
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.
Eade K et al.
Nature Metabolism, 2021
The Complex Clinical and Genetic Landscape of Hereditary Peripheral Neuropathy.
Ghosh S et al.
Annual Review of Pathology, 2021
Expanding the spectrum of SPTLC1-related disorders beyond hereditary sensory and autonomic neuropathies: A novel case of the distinct "S331 syndrome".
Rossi F et al.
Journal of the Peripheral Nervous System : Jpns, 2020
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I.
Boso F et al.
Neurology. Genetics, 2019
Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.
Gantner ML et al.
The New England Journal of Medicine, 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
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.
Suriyanarayanan S et al.
Neuromolecular Medicine, 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
Natural history and biomarkers in hereditary sensory neuropathy type 1.
Fridman V et al.
Muscle & Nerve, 2015
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
The pyridoxal 5'-phosphate (PLP)-dependent enzyme serine palmitoyltransferase (SPT): effects of the small subunits and insights from bacterial mimics of human hLCB2a HSAN1 mutations.
Beattie AE et al.
Biomed Research International, 2013
The debut of a rational treatment for an inherited neuropathy?
Scherer SS
The Journal of Clinical Investigation, 2011
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
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
Rotthier A et al.
Human Mutation, 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
SPTLC1 binds ABCA1 to negatively regulate trafficking and cholesterol efflux activity of the transporter.
Tamehiro N et al.
Biochemistry, 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