Ontology highlight
ABSTRACT:
INSTRUMENT(S): Orbitrap Eclipse
ORGANISM(S): Homo Sapiens (human)
SUBMITTER: riccardo zenezini chiozzi
LAB HEAD: Konstantinos Thalassinos
PROVIDER: PXD058785 | Pride | 2025-05-26
REPOSITORIES: Pride
Items per page: 5 1 - 5 of 48 |
Valdebenito Gabriel E GE Chacko Anitta R AR Chung Chih-Yao CY Sheshadri Preethi P Chi Haoyu H O'Callaghan Benjamin B Madej Monika J MJ Houlden Henry H Rouse Hannah H Morales Valle V Bianchi Katiuscia K Tedesco Francesco Saverio FS Pitceathly Robert D S RDS Duchen Michael R MR
Stem cell reports 20250313 4
Mutations in mitochondrial DNA cause severe multisystem disease frequently associated with muscle weakness. The m.3243A>G mutation is the major cause of mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS). Experimental models that recapitulate the disease phenotype in vitro for disease modeling or drug screening are very limited. We have therefore generated hiPSC-derived muscle fibers with variable heteroplasmic mtDNA mutation load without significantly affecting mus ...[more]