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Mitochondrial disease is a debilitating condition with a diverse genetic aetiology. Here, we report that TMEM126A, a protein that is mutated in patients with autosomal recessive optic atrophy, participates directly in the assembly of mitochondrial complex I. Using a combination of genome editing, in...
ORGANISM(S): Homo sapiens (Human) 
2021-04-21 | PXD023136 | Pride
We used Targeted RNase H-mediated Extraction of crosslinked RBPs (TREX)to assess the endogenous binding partners of the ND4 segment of NORAD long noncoding RNA (lncRNA) in human HCT116 cells. Extracted proteins from RNase H digested and control cells (4 replicate per region per condition) were compa...
ORGANISM(S): Homo sapiens (Human) 
2023-12-27 | PXD045385 | Pride
Leber’s hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease caused by homoplasmic mutations in complex I subunit genes, and is characterized by incomplete penetrance. The mechanism of low penetrance of complex I mutation is still largely unclear today. In this study, w...
ORGANISM(S): Homo sapiens 
2017-09-08 | GSE103619 | GEO
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