Ontology highlight
ABSTRACT: 
INSTRUMENT(S): Orbitrap Fusion Lumos
ORGANISM(S): Mus Musculus (ncbitaxon:10090)
SUBMITTER:  Karen Colwill
Karen Colwill   
PROVIDER: MSV000089872 | MassIVE | Tue Jul 12 12:00:00 BST 2022
SECONDARY ACCESSION(S): PXD035277
REPOSITORIES: MassIVE

Volpatti Jonathan R JR Ghahramani-Seno Mehdi M MM Mansat Mélanie M Sabha Nesrin N Sarikaya Ege E Goodman Sarah J SJ Chater-Diehl Eric E Celik Alper A Pannia Emanuela E Froment Carine C Combes-Soia Lucie L Maani Nika N Yuki Kyoko E KE Chicanne Gaëtan G Uusküla-Reimand Liis L Monis Simon S Alvi Sana Akhtar SA Genetti Casie A CA Payrastre Bernard B Beggs Alan H AH Bonnemann Carsten G CG Muntoni Francesco F Wilson Michael D MD Weksberg Rosanna R Viaud Julien J Dowling James J JJ
Acta neuropathologica 20220717 3
X-linked myotubular myopathy (XLMTM) is a fatal neuromuscular disorder caused by loss of function mutations in MTM1. At present, there are no directed therapies for XLMTM, and incomplete understanding of disease pathomechanisms. To address these knowledge gaps, we performed a drug screen in mtm1 mutant zebrafish and identified four positive hits, including valproic acid, which functions as a potent suppressor of the mtm1 zebrafish phenotype via HDAC inhibition. We translated these findings to a ...[more]