about
The molecular basis of malonyl-CoA decarboxylase deficiency.Treatment for mitochondrial disordersMutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patientsMutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expressionCharacterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex IMutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial diseaseMutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndromeCOA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translationA mitochondrial protein compendium elucidates complex I disease biologyHuman CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause diseaseAnalysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex INuclear Gene-Encoded Leigh Syndrome OverviewLARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem FailureMonolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosisMitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavinN-Acetylcysteine improves mitochondrial function and ameliorates behavioral deficits in the R6/1 mouse model of Huntington's diseaseTissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathyProteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) geneToward a mtDNA locus-specific mutation database using the LOVD platformAccessory subunits are integral for assembly and function of human mitochondrial complex I.Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.Functional characterization of Friedreich ataxia iPS-derived neuronal progenitors and their integration in the adult brain.Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegenerationRapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiencyMitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4fky/fky mouse.Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.Mitochondrial disorders: prevalence, myths and advances.MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in MitochondriaBiochemical and molecular diagnosis of mitochondrial respiratory chain disorders.IGF2BP2/IMP2-Deficient mice resist obesity through enhanced translation of Ucp1 mRNA and Other mRNAs encoding mitochondrial proteins.Comparison of computer simulations of the F-type and L-type non-oxidative hexose monophosphate shunts with 31P-NMR experimental data from human erythrocytes.Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patients.SURF1 deficiency: a multi-centre natural history study.
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description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
David Thorburn
@ast
David Thorburn
@en
David Thorburn
@es
David Thorburn
@nl
type
label
David Thorburn
@ast
David Thorburn
@en
David Thorburn
@es
David Thorburn
@nl
prefLabel
David Thorburn
@ast
David Thorburn
@en
David Thorburn
@es
David Thorburn
@nl
P108
P106
P21
P31
P496
0000-0002-7725-9470