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ProteomicsSplice-Switching Oligonucleotide-mediated Correction of a Deep Intronic Splice-variant in TIMMDC1 in Cells of Patients with Severe Early Onset Neurodegenerative Disorder.
TIMMDC1 encodes the Translocase of Inner Mitochondrial Membrane Domain-Containing protein 1 (TIMMDC1) subunit of complex I of the electron transport chain responsible for ATP production. We studied a consanguineous family with two affected children, now deceased, who presented with failure to thrive...
ORGANISM(S): Homo sapiens (Human) 
2022-02-17 | PXD029707 | Pride
Human Sso Dia Mitochondrial disease Timmdc1 
UnknownOligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder.
Not available
S-EPMC8799713 | biostudies-literature
UnknownTIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex.
Not available
S-EPMC4023825 | biostudies-literature
ProteomicsProteomic analysis in the study of the mitochondrial supercomplex assembly
Mitochondrial supercomplexes are functionally important, but how supercomplexes being assembled is not known. Mitochondrial Complex I has an important role in the assembly of supercomplex. In this study, we generated a series of cell model with shRNA mediated gene silencing or CRISPR-Cas9 gene knock...
ORGANISM(S): Homo Sapiens 
2021-01-08 | PXD023474 |
UnknownA patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.
Not available
S-EPMC6661004 | biostudies-literature
UnknownC9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly.
Not available
S-EPMC8579819 | biostudies-literature
UnknownDissecting the concordant and disparate roles of NDUFAF3 and NDUFAF4 in mitochondrial complex I biogenesis.
Not available
S-EPMC8346666 | biostudies-literature
UnknownGenetic diagnosis of Mendelian disorders via RNA sequencing.
Not available
S-EPMC5499207 | biostudies-literature
TranscriptomicsmiR-450a acts as a tumor suppressor in ovarian cancer by readjusting energy metabolism
Dysregulation of miRNA expression is associated with multiple diseases, including cancers where they can have oncogenic or tumor suppressive function. Here we investigated the potential tumor suppressive function of miR-450a, one of the most significantly downregulated miRNAs in ovarian cancer. RNAs...
ORGANISM(S): Homo sapiens 
2019-04-30 | GSE129076 | GEO
UnknownMulti-omics characterization of esophageal squamous cell carcinoma identifies molecular subtypes and therapeutic targets.
Not available
S-EPMC11141925 | biostudies-literature
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