Associated Papers
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 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 and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis.
Okubo S et al.
Journal of Neurology, 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
Amyotrophic lateral sclerosis: translating genetic discoveries into therapies.
Akçimen F et al.
Nature Reviews. Genetics, 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
Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis.
Li C et al.
Human Genomics, 2023
Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations.
Wang P et al.
Chinese Medical Journal, 2023
Recent progress of the genetics of amyotrophic lateral sclerosis and challenges of gene therapy.
Wang H et al.
Frontiers in Neuroscience, 2023
Deciphering lipid dysregulation in ALS: from mechanisms to translational medicine.
Agrawal I et al.
Translational Neurodegeneration, 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
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
New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.
Kölbel H et al.
Genes, 2022
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO et al.
Jama Neurology, 2021
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Mohassel P et al.
Nature Medicine, 2021
Structural insights into the regulation of human serine palmitoyltransferase complexes.
Wang Y et al.
Nature Structural & Molecular Biology, 2021
Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.
Sharma R et al.
Mutation Research. Reviews in Mutation Research, 0