about
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorderMPV17L2 is required for ribosome assembly in mitochondriaMPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletionAltered thymidine metabolism due to defects of thymidine phosphorylaseMNGIE: from nuclear DNA to mitochondrial DNA.Clinical and molecular features of mitochondrial DNA depletion syndromes.EFNS guidelines on the molecular diagnosis of mitochondrial disorders.Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial diseaseATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.Amino acid starvation has opposite effects on mitochondrial and cytosolic protein synthesis.Nuclear genes in mitochondrial disorders.MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in MitochondriaMitochondrial nucleoid interacting proteins support mitochondrial protein synthesis.Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria.Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders.Mitochondrial DNA mutations and depletion in pediatric medicine.Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.Mitochondrial quality control: Cell-type-dependent responses to pathological mutant mitochondrial DNAOligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene.Identification of novel mutations in five patients with mitochondrial encephalomyopathy.Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias.Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses.Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model.Reply: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk.Transcript availability dictates the balance between strand-asynchronous and strand-coupled mitochondrial DNA replicationThe mitochondrial type IB topoisomerase drives mitochondrial translation and carcinogenesisLETM1 couples mitochondrial DNA metabolism and nutrient preference.Mitochondrial disordersCoenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiencyLack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and ItaliansMRPS25 mutations impair mitochondrial translation and cause encephalomyopathyBeyond the unwinding: role of TOP1MT in mitochondrial translation
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Antonella Spinazzola
@ast
Antonella Spinazzola
@en
Antonella Spinazzola
@es
Antonella Spinazzola
@nl
type
label
Antonella Spinazzola
@ast
Antonella Spinazzola
@en
Antonella Spinazzola
@es
Antonella Spinazzola
@nl
prefLabel
Antonella Spinazzola
@ast
Antonella Spinazzola
@en
Antonella Spinazzola
@es
Antonella Spinazzola
@nl
P1053
P-5298-2017
P106
P1153
7004454164
P21
P31
P496
0000-0003-4242-8091