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ProteomicsAblation of mitochondrial rhomboid Parl causes Leigh syndrome
The mitochondrial intramembrane rhomboid protease Parl plays essential roles in cell death but its physiological contribution remains unclear. In the present study we show that Parl ablation causes a dramatic necrotic neurodegeneration consistent with Leigh syndrome, a mitochondrial disease characte...
ORGANISM(S): Mus musculus (Mouse) 
2018-11-21 | PXD008908 | Pride
Leigh syndrome Pgam5 Rhomboids Proteolysis Necrosis Ttc19 Complex iii Apoptosis Neurodegeneration Parl Pink1 
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
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 
GenomicsRNA-seq of a Leigh Syndrome patient blood being treated with Omaveloxolone.
RNA-seq of a Leigh Syndrome patient blood being treated with Omaveloxolone.
PRJNA1416919 | ENA
GenomicsRNA-seq of a Leigh Syndrome patient blood being treated with Omaveloxolone
RNA-seq of a Leigh Syndrome patient blood being treated with Omaveloxolone
PRJNA1310465 | ENA
Genomics
Leigh syndrome-associated mutations
PRJNA626388 | ENA
GenomicsThe 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
PRJEB48089 | ENA
TranscriptomicsRNA-seq of a Leigh Syndrome patient blood being treated with Omaveloxolone.
A male patient diagnosed with Leigh Syndrome due to a compound heterizygous mutation in SURF1 (SURF1 c.312_321del10insAT (p.Leu105*); SURF1 c.574C>T (p.Arg192Trp)) was prescribed Omaveloxolone under physican supervision. Pre-treatment patient blood showed deficiency in pathways associated with oxida...
ORGANISM(S): Homo sapiens 
2026-08-01 | GSE318208 | GEO
UnknownNovel NARS2 variant causing leigh syndrome with normal lactate levels.
Not available
S-EPMC9068749 | biostudies-literature
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