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Cold Spring Harbor Molecular Case Studies|October 19, 2017
Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1CMari Auranen, Jussi Toppila, Saranya Suriyanarayanan, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 25, 2020
Subunit composition of the mammalian serine-palmitoyltransferase defines the spectrum of straight and methyl-branched long-chain basesMuseer A Lone, Andreas J Hülsmeier, Essa M Saied, et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids|June 22, 2023
SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALSMuseer A Lone, Sen Zeng, Florence Bourquin, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|December 29, 2019
Farnesoid X receptor activation induces the degradation of hepatotoxic 1-deoxysphingolipids in non-alcoholic fatty liver diseaseZhibo Gai, Ting Gui, Irina Alecu, et al.
Biorxiv : the Preprint Server for Biology|March 3, 2025
Lack of motor defects and ALS-like neuropathology in heterozygous Sptlc1 Exon 2 deletion miceDevesh C Pant, Museer A Lone, Janani Parameswaran, et al.
Plos Biology|August 19, 2024
The conformational plasticity of structurally unrelated lipid transport proteins correlates with their mode of actionSriraksha Srinivasan, Andrea Di Luca, Daniel Álvarez, et al.
Life Science Alliance|July 2, 2026
Deletion of exon 2 in ALS-linked Sptlc1 causes lethality in homozygous mice but not in heterozygotesDevesh C Pant, Museer A Lone, Janani Parameswaran, et al.
Neuromolecular Medicine|April 8, 2019
A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1CSaranya Suriyanarayanan, Alaa Othman, Bianca Dräger, et al.
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