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Trypanosomal TAC40 constitutes a novel subclass of mitochondrial β-barrel proteins specialized in mitochondrial genome inheritance.Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype.Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs.Mitochondrial outer membrane proteome of Trypanosoma brucei reveals novel factors required to maintain mitochondrial morphologyqPCR-based mitochondrial DNA quantification: influence of template DNA fragmentation on accuracy.Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy.mTORC1 Regulates Mitochondrial Integrated Stress Response and Mitochondrial Myopathy Progression.Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.Calcification of vascular smooth muscle cells is induced by secondary calciprotein particles and enhanced by tumor necrosis factor-α.SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.Heterologous expression from the human D-Loop in organello.Quantitative 1-step DNA methylation analysis with native genomic DNA as template.A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvementNeutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP productionMitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvationMitochondrial stress response triggered by defects in protein synthesis quality controlReply to 'Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant'3D Co-culture of hiPSC-Derived Cardiomyocytes With Cardiac Fibroblasts Improves Tissue-Like Features of Cardiac SpheroidsNovel synonymous and missense variants in FGFR1 causing Hartsfield syndrome
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description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Christopher B Jackson
@ast
Christopher B Jackson
@en
Christopher B Jackson
@es
Christopher B Jackson
@nl
Christopher B Jackson
@sl
type
label
Christopher B Jackson
@ast
Christopher B Jackson
@en
Christopher B Jackson
@es
Christopher B Jackson
@nl
Christopher B Jackson
@sl
altLabel
Christopher B. Jackson
@en
prefLabel
Christopher B Jackson
@ast
Christopher B Jackson
@en
Christopher B Jackson
@es
Christopher B Jackson
@nl
Christopher B Jackson
@sl
P1053
M-3222-2013
P106
P1153
36480131300
P21
P31
P3829
P496
0000-0003-1035-6417