ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency
about
Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesisCOQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial diseaseExperimental neurotransplantation treatment for hereditary cerebellar ataxiasCoenzyme Q and Its Role in the Dietary Therapy against AgingABC1K atypical kinases in plants: filling the organellar kinase voidCerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase ActivityubiI,a New Gene inEscherichia coliCoenzyme Q Biosynthesis, Is Involved in Aerobic C5-hydroxylationOverexpression of the Coq8 kinase in Saccharomyces cerevisiae coq null mutants allows for accumulation of diagnostic intermediates of the coenzyme Q6 biosynthetic pathway.Expression of the human atypical kinase ADCK3 rescues coenzyme Q biosynthesis and phosphorylation of Coq polypeptides in yeast coq8 mutantsTreatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effectsAarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal AccumulationAutosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisationHistorical perspective on mitochondrial medicineCoenzyme Q10 and Neurological Diseases.Coenzyme Q protects Caenorhabditis elegans GABA neurons from calcium-dependent degeneration.Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.Mitochondrial dysfunction in inherited renal disease and acute kidney injuryClinical presentations of coenzyme q10 deficiency syndromePathomechanisms in coenzyme q10-deficient human fibroblasts.Biochemical diagnosis of coenzyme q10 deficiency.An overview of current mouse models recapitulating coenzyme q10 deficiency syndromeEffects of inhibiting CoQ10 biosynthesis with 4-nitrobenzoate in human fibroblasts.A Gly-zipper motif mediates homodimerization of the transmembrane domain of the mitochondrial kinase ADCK3.Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.The podocyte power-plant disaster and its contribution to glomerulopathy.A modern approach to the treatment of mitochondrial diseaseRenal mitochondrial cytopathies.Over-expression of COQ10 in Saccharomyces cerevisiae inhibits mitochondrial respirationFunctional viability profiles of breast cancer.176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiencyMolecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.Renal involvement in mitochondrial cytopathies.CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.Mitochondrial function and lifespan of mice with controlled ubiquinone biosynthesis
P2860
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P2860
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency
description
2008 nî lūn-bûn
@nan
2008 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի մարտին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
ADCK3, an ancestral kinase, is ...... d with coenzyme Q10 deficiency
@ast
ADCK3, an ancestral kinase, is ...... d with coenzyme Q10 deficiency
@en
ADCK3, an ancestral kinase, is ...... d with coenzyme Q10 deficiency
@nl
type
label
ADCK3, an ancestral kinase, is ...... d with coenzyme Q10 deficiency
@ast
ADCK3, an ancestral kinase, is ...... d with coenzyme Q10 deficiency
@en
ADCK3, an ancestral kinase, is ...... d with coenzyme Q10 deficiency
@nl
prefLabel
ADCK3, an ancestral kinase, is ...... d with coenzyme Q10 deficiency
@ast
ADCK3, an ancestral kinase, is ...... d with coenzyme Q10 deficiency
@en
ADCK3, an ancestral kinase, is ...... d with coenzyme Q10 deficiency
@nl
P2093
P2860
P50
P3181
P1476
ADCK3, an ancestral kinase, is ...... d with coenzyme Q10 deficiency
@en
P2093
Catarina M Quinzii
Cleverson Busso
David R Lynch
Frédéric Plewniak
Lamia Ali-Pacha
Laurent Bianchetti
Meriem Tazir
Michel Koenig
Michio Hirano
Mirna Assoum
P2860
P304
P3181
P356
10.1016/J.AJHG.2007.12.024
P407
P50
P577
2008-03-01T00:00:00Z