Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder?

From Transcriptomics to Treatment in Inherited Optic Neuropathies

(2021) Michael James Gilhooley et al.   Genes

Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism

(2020) Signe Mosegaard et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Dissecting the Roles of Mitochondrial Complex I Intermediate Assembly Complex Factors in the Biogenesis of Complex I

(2020) Luke E. Formosa et al.   Cell Reports

Assembly of The Mitochondrial Complex I Assembly Complex Suggests a Regulatory Role for Deflavination

(2020) Gabriele Giachin et al.   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10

(2019) Takumi Kadoya et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

(2018) Birgit M. Repp et al.   Orphanet Journal of Rare Diseases

Mammalian Mitochondrial Complex I Structure and Disease-Causing Mutations

(2018) Karol Fiedorczuk et al.   TRENDS IN CELL BIOLOGY

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood

(2015) Marie Collet et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency

(2015) Manuel Schiff et al.   HUMAN MOLECULAR GENETICS

ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies

(2013) Jessica Nouws et al.   HUMAN MOLECULAR GENETICS

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

(2012) S. Koene et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

(2010) Mike Gerards et al.   BRAIN

Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I

(2010) Jessica Nouws et al.   Cell Metabolism