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Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial diseaseDysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex ICowchock syndrome is associated with a mutation in apoptosis-inducing factorMPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletionSDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathyMutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathyMutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and fliesEthylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene poolIdentification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorderAAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failureNonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutationsClinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup backgroundInfantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTuEmerging concepts in the therapy of mitochondrial diseaseSURF1 deficiency causes demyelinating Charcot-Marie-Tooth diseaseThe V368i mutation in Twinkle does not segregate with AdPEOMolecular diagnosis in mitochondrial complex I deficiency using exome sequencingStructure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegiaMitochondrial disordersSevere infantile hypotonia with ethylmalonic aciduria: case reportMolecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genesLoss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathyConstitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in miceAdult-onset leukodystrophies from respiratory chain disorders: do they exist?Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHBMR findings in Leigh syndrome with COX deficiency and SURF-1 mutations.Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathyLYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells.Epstein-Barr virus immediate-early protein Zta co-opts mitochondrial single-stranded DNA binding protein to promote viral and inhibit mitochondrial DNA replication.How do human cells react to the absence of mitochondrial DNA?MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene.Pharmacological Inhibition of poly(ADP-ribose) polymerases improves fitness and mitochondrial function in skeletal muscle.NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease.Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.
P50
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Massimo Zeviani
@ast
Massimo Zeviani
@en
Massimo Zeviani
@es
Massimo Zeviani
@nl
Massimo Zeviani
@sl
type
label
Massimo Zeviani
@ast
Massimo Zeviani
@en
Massimo Zeviani
@es
Massimo Zeviani
@nl
Massimo Zeviani
@sl
prefLabel
Massimo Zeviani
@ast
Massimo Zeviani
@en
Massimo Zeviani
@es
Massimo Zeviani
@nl
Massimo Zeviani
@sl
P106
P21
P31
P496
0000-0002-9067-5508