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Journal of Anatomy|December 7, 2021
Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1Timothy J Hines, Abigail L D Tadenev, Museer A Lone, et al.The Journal of Clinical Investigation|July 28, 2022
SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteinsMuseer A Lone, Mari J Aaltonen, Aliza Zidell, et al.Elife|February 26, 2020
An alternatively spliced, non-signaling insulin receptor modulates insulin sensitivity via insulin peptide sequestration in C. elegansBryan A Martinez, Pedro Reis Rodrigues, Ricardo M Nuñez Medina, et al.Antimicrobial Agents and Chemotherapy|November 6, 2013
The natural diyne-furan fatty acid EV-086 is an inhibitor of fungal delta-9 fatty acid desaturation with efficacy in a model of skin dermatophytosisPhilipp Knechtle, Melanie Diefenbacher, Katrine B V Greve, et al.Cell Reports. Medicine|August 2, 2021
An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactionsAlex J Clark, Umaiyal Kugathasan, Georgios Baskozos, et al.Brain : a Journal of Neurology|October 22, 2025
Antisense oligonucleotides reverse SPTLC1-related hereditary sensory neuropathy in a mouse modelJinhong Meng, Shunyi Ma, Museer A Lone, et al.Journal of Neurology, Neurosurgery, and Psychiatry|December 2, 2023
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosisMaike F Dohrn, Danique Beijer, Museer A Lone, et al.Journal of Neurology, Neurosurgery, and Psychiatry|December 2, 2023
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesisSafoora B Syeda, Museer A Lone, Payam Mohassel, et al.Biorxiv : the Preprint Server for Biology|June 12, 2026
The COPI coatomer influences LDL receptor activity, hepatic lipid storage, and apoB secretionGrigorios Panteloglou, Jérôme Robert, Marieke Smit, et al.Nature Medicine|June 1, 2021
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesisPayam Mohassel, Sandra Donkervoort, Museer A Lone, et al.Pageof 4