Associated Papers
Antisense oligonucleotides reverse SPTLC1-related hereditary sensory neuropathy in a mouse model.
Meng J et al.
Brain : a Journal of Neurology, 2025
1-Deoxysphingolipids dysregulate membrane properties and cargo trafficking in the early secretory pathway.
Tsai YT et al.
Biorxiv : the Preprint Server for Biology, 2025
Effect of Brief Electrical Stimulation on Cell Biomechanics in Hereditary Sensory Neuropathy.
Ta D et al.
Small (weinheim an Der Bergstrasse, Germany), 2025
Lack of motor defects and ALS-like neuropathology in heterozygous Sptlc1 Exon 2 deletion mice.
Pant DC et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic Background of Macular Telangiectasia Type 2.
Kunčič A et al.
International Journal of Molecular Sciences, 2025
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Record CJ et al.
Brain : a Journal of Neurology, 2024
Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).
Rochat J et al.
Genes, 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
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
Syeda SB et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2024
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A et al.
Brain : a Journal of Neurology, 2023
SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS.
Lone MA et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2023
Sphingolipids in neurodegenerative diseases.
Pan X et al.
Frontiers in Neuroscience, 2023
Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.
Themistocleous AC et al.
Brain Communications, 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
Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1.
Hines TJ et al.
Journal of Anatomy, 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
1-Deoxysphingolipid synthesis compromises anchorage-independent growth and plasma membrane endocytosis in cancer cells.
Cordes T et al.
Journal of Lipid Research, 2022
SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins.
Lone MA et al.
The Journal of Clinical Investigation, 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
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
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO et al.
Jama Neurology, 2021
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
The Complex Clinical and Genetic Landscape of Hereditary Peripheral Neuropathy.
Ghosh S et al.
Annual Review of Pathology, 2021
Metabolism of HSAN1- and T2DM-associated 1-deoxy-sphingolipids inhibits the migration of fibroblasts.
Karsai G et al.
Journal of Lipid Research, 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 Model of Hereditary Sensory and Autonomic Neuropathy Type 1 Reveals a Role of Glycosphingolipids in Neuronal Polarity.
Cui M et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2019
A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.
Suriyanarayanan S et al.
Neuromolecular Medicine, 2019
The ORMs interact with transmembrane domain 1 of Lcb1 and regulate serine palmitoyltransferase oligomerization, activity and localization.
Han G et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 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
Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses.
Rajabally YA et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
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
Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root Ganglia.
Jun BK et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015
Natural history and biomarkers in hereditary sensory neuropathy type 1.
Fridman V et al.
Muscle & Nerve, 2015
Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity.
Ernst D et al.
Neuromolecular Medicine, 2015
Human genetic disorders of sphingolipid biosynthesis.
Astudillo L et al.
Journal of Inherited Metabolic Disease, 2015