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ProteomicsMitochondrial Proteome of Affected Neurons in a Mouse Model of Leigh Syndrome
Defects in mitochondrial function lead to severe neuromuscular orphan pathologies known as mitochondrial disease. Among them, Leigh Syndrome is the most common pediatric presentation, characterized by symmetrical brain lesions, hypotonia, motor and respiratory deficits, and premature death. Mitochon...
ORGANISM(S): Mus musculus (Mouse) 
2020-07-28 | PXD016321 | Pride
Proteomics Cell type-specific Animal models Neuroscience Leigh syndrome Mitochondrial isolation 
TranscriptomicsThe analysis of transcriptional profiles of cybrid cells harbouring two pathogenic mtDNA variants associated with Leigh syndrome
The analysis of transcriptional profiles of cybrid cells harbouring two pathogenic mtDNA variants associated with Leigh syndrome i.e., m.9185T>C in the mt-ATP6 gene and m.13513G>A in the mt-ND5 gene, in comparison to cybrid cells harbouring control mtDNA haplogroups or the wt m.13513G variant.
ORGANISM(S): Homo sapiens 
2023-04-01 | E-MTAB-11035 | biostudies-arrayexpress
TranscriptomicsOXPHOS complex I deficiency leads to transcriptional changes of the Nrf2-Keap1 pathway and selenoproteins.
Defective complex I (CI) is the most common type of oxidative phosphorylation (OXPHOS) disease in patients, with an incidence of 1 in 5,000 live births. Complex I deficiency can present in infancy or early adulthood and shows a wide variety of clinical manifestations, including Leigh syndrome, (card...
ORGANISM(S): Homo sapiens 
2011-11-01 | E-GEOD-27041 | biostudies-arrayexpress
ProteomicsDefective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome
Leigh syndrome (LS) is a severe manifestation of mitochondrial disease in children and is currently incurable. The lack of effective models hampers our understanding of the mechanisms underlying the neuronal pathology of LS. Using patient-derived induced pluripotent stem cells and CRISPR/Cas9 engine...
ORGANISM(S): Homo sapiens (Human) 
2021-01-29 | PXD019112 | Pride
Mitochondrial disease  leigh syndrome  ipscs  npcs  brain organoids  surf1 
UnknownNdufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
Not available
S-EPMC8967107 | biostudies-literature
UnknownThe p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.
Not available
S-EPMC2947428 | biostudies-literature
UnknownPathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Not available
S-EPMC7042492 | biostudies-literature
GenomicsComplex I deficiency disrupts postnatal neurogenesis in the subventricular zone in a mouse model of Leigh Syndrome
Complex I deficiency disrupts postnatal neurogenesis in the subventricular zone in a mouse model of Leigh Syndrome
PRJNA1262481 | ENA
UnknownBi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.
Not available
S-EPMC7645371 | biostudies-literature
TranscriptomicsNAD+ regeneration rescues lifespan but not ataxia in a mouse model of brain mitochondrial complex I dysfunction
Mitochondrial complex I regenerates NAD+ and proton pumps for TCA cycle function and ATP production, respectively. Mitochondrial complex I dysfunction has been implicated in many brain pathologies including Leigh Syndrome and Parkinson’s disease. We sought to determine whether NAD+ regeneration or p...
ORGANISM(S): Mus musculus 
2020-04-30 | GSE149616 | GEO
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