Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy
I Di Meo, G Fagiolari, A Prelle, C Viscomi… - Antioxidants & redox …, 2011 - liebertpub.com
Ethylmalonic encephalopathy (EE) is an autosomal recessive, invariably fatal disorder
associated with mutations in ETHE1, a gene encoding a mitochondrial sulfur dioxygenase …
associated with mutations in ETHE1, a gene encoding a mitochondrial sulfur dioxygenase …
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy
V Tiranti, C Viscomi, T Hildebrandt, I Di Meo, R Mineri… - Nature medicine, 2009 - nature.com
Ethylmalonic encephalopathy is an autosomal recessive, invariably fatal disorder
characterized by early-onset encephalopathy, microangiopathy, chronic diarrhea, defective …
characterized by early-onset encephalopathy, microangiopathy, chronic diarrhea, defective …
[PDF][PDF] In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis
C Viscomi, E Bottani, G Civiletto, R Cerutti, M Moggio… - Cell metabolism, 2011 - cell.com
Increased mitochondrial biogenesis by activation of PPAR-or AMPK/PGC-1α-dependent
homeostatic pathways has been proposed as a treatment for mitochondrial disease. We …
homeostatic pathways has been proposed as a treatment for mitochondrial disease. We …
[HTML][HTML] Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts
E Onesto, C Colombrita, V Gumina, MO Borghi… - Acta neuropathologica …, 2016 - Springer
Dysregulation of RNA metabolism represents an important pathogenetic mechanism in both
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) due to the …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) due to the …
[HTML][HTML] Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor …
SG Kalko, S Paco, C Jou, MA Rodríguez, M Meznaric… - BMC genomics, 2014 - Springer
Background Mutations in the gene encoding thymidine kinase 2 (TK2) result in the
myopathic form of mitochondrial DNA depletion syndrome which is a mitochondrial …
myopathic form of mitochondrial DNA depletion syndrome which is a mitochondrial …
Impaired muscle mitochondrial biogenesis and myogenesis in spinal muscular atrophy
M Ripolone, D Ronchi, R Violano, D Vallejo… - JAMA …, 2015 - jamanetwork.com
Importance The important depletion of mitochondrial DNA (mtDNA) and the general
depression of mitochondrial respiratory chain complex levels (including complex II) have …
depression of mitochondrial respiratory chain complex levels (including complex II) have …
[PDF][PDF] RNASEH1 mutations impair mtDNA replication and cause adult-onset mitochondrial encephalomyopathy
A Reyes, L Melchionda, A Nasca, F Carrara… - The American Journal of …, 2015 - cell.com
Chronic progressive external ophthalmoplegia (CPEO) is common in mitochondrial
disorders and is frequently associated with multiple mtDNA deletions. The onset is typically …
disorders and is frequently associated with multiple mtDNA deletions. The onset is typically …
Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis
G Civiletto, SA Dogan, R Cerutti, G Fagiolari… - EMBO molecular …, 2018 - embopress.org
The mTOR inhibitor rapamycin ameliorates the clinical and biochemical phenotype of
mouse, worm, and cellular models of mitochondrial disease, via an unclear mechanism …
mouse, worm, and cellular models of mitochondrial disease, via an unclear mechanism …
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse …
Pantothenate kinase-associated neurodegeneration, caused by mutations in the PANK2
gene, is an autosomal recessive disorder characterized by dystonia, dysarthria, rigidity …
gene, is an autosomal recessive disorder characterized by dystonia, dysarthria, rigidity …
Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice
A Agostino, F Invernizzi, C Tiveron… - Human molecular …, 2003 - academic.oup.com
We report here the creation of a constitutive knockout mouse for SURF1, a gene encoding
one of the assembly proteins involved in the formation of cytochrome c oxidase (COX). Loss …
one of the assembly proteins involved in the formation of cytochrome c oxidase (COX). Loss …