Sort   by:  
 Page size 
TranscriptomicsGene expression analysis in 13 patients with mitochondrial ATP synthase deficiency (MitoArray)
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 
2010-06-05 | E-GEOD-8648 | biostudies-arrayexpress
TranscriptomicsComplete OATP1B1 and OATP1B3 deficiency underlies human Rotor syndrome.
Rotor syndrome is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, near-absent hepatic uptake of anionic diagnostics, and coproporphyrinuria. The mechanistic basis of other hyperbilirubinemia syndromes is largely understood, but that of Rotor syndrome has remained enig...
ORGANISM(S): Homo sapiens 
2012-01-16 | E-GEOD-33733 | biostudies-arrayexpress
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
ProteomicsProteome analysis of HEK293 cells stably expressing wild-type and mutated AGAL enzyme
Fabry disease is an X-linked condition caused by variants of the GLA gene that result in the absence or enzymatic deficiency of alpha-galactosidase A (AGAL). This enzyme defect leads to lysosomal storage of globotriaosylceramide (Gb3Cer) in a variety of cell types throughout the body and manifests a...
ORGANISM(S): Homo sapiens (Human) 
2025-11-06 | PXD033936 | Pride
Alpha-galactosidase a Fabry disease 
TranscriptomicsRespiratory chain protein analysis and gene expression profiles of fibroblast cell lines from 9 patients with SURF1 gene mutations
Upregulation of CI, CIII and CV at a protein but not mRNA level in LSCOX cell with COX deficiency due to SURF1 mutations compared to control – evidence for posttranscriptional compensatory mechanism. Two-condition experiment, patients vs. controls cells. Biological replicates: 3 controls and 9 pat...
ORGANISM(S): Homo sapiens 
2011-06-01 | E-GEOD-26322 | biostudies-arrayexpress
Sort   by:  
 Page size