Sort   by:  
 Page size 
MetabolomicsACOD1 deficiency promotes dermal papilla cell senescence via mitochondrial dysfunction in androgenetic alopecia

Background Androgenetic alopecia (AGA), the most prevalent form of hair loss, is driven by the dysfunction of dermal papilla cells (DPCs). Emerging evidence implicates DPC senescence in the pathogenesis of AGA; however, the underlying molecular mechanisms remain incompletely elucidated.

<...
2026-05-23 | MTBLS14024 | MetaboLights
MetabolomicsReactive Oxygen Species Deficiency Due to Ncf1-Mutation Leads to Development of Adenocarcinoma and Metabolomic and Lipidomic Remodeling in a New Mouse Model of Dextran Sulfate Sodium-Induced Colitis
Inflammatory bowel disease is characterized by chronic relapsing idiopathic inflammation of the gastrointestinal tract and persistent inflammation. Studies focusing on the immune-regulatory function of reactive oxygen species (ROS) are still largely missing. In this study, we analyzed an ROS-deficie...
2019-05-22 | MTBLS593 | MetaboLights
ProteomicsSubcellular proteomics combined with bioenergetic phenotyping reveals protein biomarkers of respiratory insufficiency in the setting of compromised mitochondrial DNA repair.
The mitochondrial mutator mouse is a well-established model of premature aging in which a progeroid phenotype is driven by the accumulation of somatic mtDNA mutations. Despite evidence of bioenergetic disruption within the cardiac mitochondria, there is little information about the underlying change...
ORGANISM(S): Mus Musculus (mouse) 
2021-01-08 | PXD017000 | JPOST Repository
ProteomicsMetabolic shift underlies recovery in reversible infantile respiratory chain deficiency
Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy leading to severe metabolic disturbances in infants, which recover spontaneously after 6 months of age. RIRCD is associated with the homoplasmic m.14674T>C mitochondrial DNA mutation, however only ~1/100 carri...
ORGANISM(S): Homo sapiens (Human) 
2020-10-13 | PXD020181 | Pride
Mitochondrial myopathy Digenic inheritance Reversible infantile respiratory chain deficiency Homoplasmic trna mutation 
ProteomicsAscorbic acid deficiency promote metabolic remodeling and pulmonary fibrosis that leads to respiratory failure in Sod1 and Akr1a double-knockout mice
Ascorbic acid deficiency promote metabolic remodeling and pulmonary fibrosis that leads to respiratory failure in Sod1 and Akr1a double-knockout mice
ORGANISM(S): Mus Musculus (mouse) 
2025-02-23 | PXD049470 | JPOST Repository
TranscriptomicsGene expression analysis in 13 patients with mitochondrial ATP synthase deficiency (Agilent)
Defects of mitochondrial functions lead in humans to vast array of usually multisystemic pathologies and several hundreds of diseases resulting from various defects of mitochondria biogenesis and maintenance, defects of respiratory chain complexes (OXPHOS) or defects of individual mitochondrial prot...
ORGANISM(S): Homo sapiens 
2008-08-01 | E-GEOD-10956 | biostudies-arrayexpress
TranscriptomicsGene expression in the mitochondrial syndrome of coenzyme Q deficiency
Coenzyme Q10 deficiency syndrome includes a clinically heterogeneous group of mitochondrial diseases characterized by low content of CoQ10 in tissues. The only currently available treatment is supplementation with CoQ10, which improves the clinical phenotype in some patients but does not reverse est...
ORGANISM(S): Homo sapiens 
2013-04-05 | E-GEOD-33940 | biostudies-arrayexpress
UnknownCase-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD.
Not available
S-EPMC5655868 | biostudies-literature
TranscriptomicsBlood mRNA profiling to support prognosis of disease severity in respiratory syncytial virus infected infants
In this study we investigated whether there exists a genomic signature that can accurately predict the course of a respiratory syncytial virus (RSV) infection in hospitalized young infants. We used early blood microarray transcriptome profiles from 39 infants that were followed until recovery and of...
ORGANISM(S): Homo sapiens 
2016-11-11 | E-MTAB-5195 | biostudies-arrayexpress
TranscriptomicsCommon gene expression profile in the mitochondrial syndrome of coenzyme Q deficiency
Coenzyme Q10 deficiency syndrome includes a clinically heterogeneous group of mitochondrial diseases characterized by low content of CoQ10 in tissues. The only currently available treatment is supplementation with CoQ10, which improves the clinical phenotype in some patients but does not reverse est...
ORGANISM(S): Homo sapiens 
2013-04-05 | E-GEOD-33769 | biostudies-arrayexpress
Sort   by:  
 Page size