Associated Papers
Molecular mechanism of interactions between ACAD9 and binding partners in mitochondrial respiratory complex I assembly.
Xia C et al.
Iscience, 2021
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.
Fragaki K et al.
Muscle & Nerve, 2017
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.
Collet M et al.
European Journal of Human Genetics : Ejhg, 2016
Another "Complex" Case: Complex I Deficiency Secondary to Acyl-CoA Dehydrogenase 9 Mutation.
Daniel R et al.
The American Journal of the Medical Sciences, 2015
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.
Schiff M et al.
Human Molecular Genetics, 2015
A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment.
Nouws J et al.
Jimd Reports, 2014
Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options.
Nouws J et al.
Brain : a Journal of Neurology, 2012
Mitochondrial disorders caused by mutations in respiratory chain assembly factors.
Diaz F et al.
Seminars in Fetal & Neonatal Medicine, 2011
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.
Gerards M et al.
Brain : a Journal of Neurology, 2011
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