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MetabolomicsLipin1 deficiency causes sarcoplasmic reticulum stress and chaperone-responsive myopathy
As a consequence of impaired glucose or fatty acid metabolism, bioenergetic stress in skeletal muscles may trigger myopathy and rhabdomyolysis. Genetic mutations causing loss of function of the LPIN1 gene frequently lead to severe rhabdomyolysis bouts in children, though the metabolic alterations an...
2019-01-07 | MTBLS750 | MetaboLights
TranscriptomicsGene expression profiling in equine polysaccharide storage myopathy
Standardized muscular biopsies of the dorsal compartment of the gluteus medius muscle were performed in 7 horses suffering from equine polysaccharide storage myopathy (PSSM) and 6 sound Norman Cob horses . Gene expression analysis was performed using an equine oligonucleotide microarray which includ...
ORGANISM(S): Equus caballus 
2009-04-08 | E-GEOD-15572 | biostudies-arrayexpress
MetabolomicsIntegrated Multi-Omics Mapping of Mitochondrial Dysfunction and Substrate Preference in Barth Syndrome Cardiac Tissue

Barth syndrome (BTHS) is a rare X-linked recessively inherited disorder caused by variants in the TAFAZZIN gene. The pathogenic variants lead to impaired conversion of monolysocardiolipin (MLCL) into mature phospholipid cardiolipin (CL). The accumulation of MLCL and mature CL deficiency is a diag...

2025-09-08 | MTBLS12953 | MetaboLights
TranscriptomicsTranscription profiling of human muscle specimens from 10 HIBM patients carrying the M712T Persian Jewish founder mutation to investigate hereditary inclusion body myopathy (HIBM)
HIBM is a neuromuscular disorder characterized by adult-onset, slowly progressive distal and proximal muscle weakness. Here, gene expression was measured in muscle specimens from 10 HIBM patients carrying the M712T Persian Jewish founder mutation in GNE and presenting with mild histological changes,...
ORGANISM(S): Homo sapiens 
2008-10-25 | E-GEOD-12648 | biostudies-arrayexpress
TranscriptomicsMitochondrial myopathy elicits global starvation response through FGF21
Progressive mitochondrial respiratory chain (RC) deficiency is associated with a wide spectrum of adult-onset degenerative diseases, as well as with normal aging. We have previously generated the Deletor mice to model late-onset progressive RC defects. Here we report novel tissue-specific pathways c...
ORGANISM(S): Mus musculus 
2011-11-16 | E-GEOD-18119 | biostudies-arrayexpress
ProteomicsIntegrated proteomic and metabolomic analyses of the mitochondrial neurodegenerative disease MELAS
MELAS (mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes) is a progressive neurodegenerative disease caused by pathogenic mitochondrial DNA variants. The pathogenic mechanism of MELAS remains enigmatic due to the exceptional clinical heterogeneity and the obscure genotype-phenot...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2021-10-16 | MSV000088237 | MassIVE
MetabolomicsControlling mitochondrial membrane architecture via MIC60 determines viral replication to promote anti-viral immunity
Virus-infected cells often exhibit dramatic cellular changes accompanied by altered mitochondrial function. The contribution of factors shaping the inner mitochondrial membrane (IMM) and cristae architecture on viral replication is insufficiently understood. Single cell transcriptomics applying vesi...
2025-06-24 | MTBLS12437 | MetaboLights
ProteomicsMuscle biopsies from human neuromuscular diseases with dystrophic, inflammatory and myopathic pathology reveal common alterations in mitochondrial function
Neuromuscular disorders (NMDs) are clinically and genetically heterogenous and manifest as dystrophic, inflammatory and myopathic pathologies, among others. Our previous study on the cardiotoxin (CTX) mouse model of myodegeneration and inflammation linked muscle pathology with mitochondrial damage a...
ORGANISM(S): Homo sapiens (Human) 
2016-04-04 | PXD002760 | Pride
Proteomics Dystrophy Orbitrap 
TranscriptomicsTranscription profiling of human skeletal muscle samples from mitochondrial disorder subjects
Extremely variable clinic and genetic features characterize Mitochondrial Encephalomyopathy Disorders (MED). Pathogenic mitochondrial DNA (mtDNA) defects can be divided into large-scale rearrangements and single point mutations. Clinical manifestations become evident when a threshold percentage of t...
ORGANISM(S): Homo sapiens 
2007-08-04 | E-GEOD-1462 | biostudies-arrayexpress
ProteomicsSarikaya_HistoryMyopathy_P124_6600
This dataset consists of 6 raw MS files, acquired on AB Sciex TripleTOF 6600 mass spectrometer operated in Data Dependent Acquisition mode. Samples were generated by Ege Sarikaya. Sample processing was performed by Ege Sarikaya and Cassandra Wong. Mass spectrometry acquisition and data analysis was...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2022-07-07 | MSV000089845 | MassIVE
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