Associated Papers
New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases.
Murgia C et al.
Nutrition & Metabolism, 2023
Molecular mechanism of interactions between ACAD9 and binding partners in mitochondrial respiratory complex I assembly.
Xia C et al.
Iscience, 2021
Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.
Djouadi F et al.
Cells, 2019
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Repp BM et al.
Orphanet Journal of Rare Diseases, 2018
Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency.
Leipnitz G et al.
Scientific Reports, 2018
Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.
Schrank B et al.
Neuromuscular Disorders : Nmd, 2017
An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach.
Aintablian HK et al.
Molecular Genetics and Metabolism Reports, 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
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E et al.
Journal of Translational Medicine, 2016
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
ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies.
Nouws J et al.
Human Molecular Genetics, 2014
A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment.
Nouws J et al.
Jimd Reports, 2014
Molecular base of biochemical complex I deficiency.
Hoefs SJ et al.
Mitochondrion, 2012
Understanding mitochondrial complex I assembly in health and disease.
Mimaki M et al.
Biochimica Et Biophysica Acta, 2012
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
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.
Nouws J et al.
Cell Metabolism, 2010