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Metabolic gatekeeper ACAD9 coordinates linoleic acid metabolism and redox homeostasis via mitochondrial complex I to drive ovarian cancer progression.
Li J, Shi J, Ding J, Qu W, Lv J, Bai Y, Wang S, Zhou R, Chen Y, Liu Y, Ding W, Piao Y, Fan Y, Wang L, Yang S, Li T, Shi Y. Li J, et al. Cancer Lett. 2025 Oct 10;630:217903. doi: 10.1016/j.canlet.2025.217903. Epub 2025 Jul 5. Cancer Lett. 2025. PMID: 40618880
Multi-omics integration analysis and mechanism studies reveal ACAD9's dual role in maintaining OC metabolic homeostasis. ACAD9 preserves electron transport chain integrity and regulates linoleic acid (LA) metabolism to sustain energy production while mitigating oxid …
Multi-omics integration analysis and mechanism studies reveal ACAD9's dual role in maintaining OC metabolic homeostasis. ACAD9 …
Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A).
Brauer N, Maruta Y, Lisci M, Strege K, Oschlies I, Nakamura H, Böhm S, Lehmberg K, Brandhoff L, Ehl S, Parvaneh N, Klapper W, Fukuda M, Griffiths GM, Hennies HC, Niehues T, Ammann S. Brauer N, et al. Front Immunol. 2023 Jun 14;14:1151166. doi: 10.3389/fimmu.2023.1151166. eCollection 2023. Front Immunol. 2023. PMID: 37388727 Free PMC article.
Exome sequencing identified homozygous variants in RAB27A, FBP1 (Fructose-1,6-bisphosphatase 1) and ACAD9 (Acyl-CoA dehydrogenase family member 9). Variants in RAB27A lead to Griscelli syndrome type 2, hypopigmentation and HLH predisposition. ...We hypothesize that the var …
Exome sequencing identified homozygous variants in RAB27A, FBP1 (Fructose-1,6-bisphosphatase 1) and ACAD9 (Acyl-CoA dehydrogenase fam …
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.
Collet M, Assouline Z, Bonnet D, Rio M, Iserin F, Sidi D, Goldenberg A, Lardennois C, Metodiev MD, Haberberger B, Haack T, Munnich A, Prokisch H, Rötig A. Collet M, et al. Eur J Hum Genet. 2016 Aug;24(8):1112-6. doi: 10.1038/ejhg.2015.264. Epub 2015 Dec 16. Eur J Hum Genet. 2016. PMID: 26669660 Free PMC article.
Acyl-CoA dehydrogenase family, member 9 (ACAD9) mutation is a frequent, usually fatal cause of early-onset cardiac hypertrophy and mitochondrial respiratory chain complex I deficiency in early childhood. We retrospectively studied a series of 20 unrelated children w …
Acyl-CoA dehydrogenase family, member 9 (ACAD9) mutation is a frequent, usually fatal cause of early-onset cardiac hypertrophy and mi …
ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis.
Van Hove JLK, Friederich MW, Hock DH, Stroud DA, Caruana NJ, Christians U, Schniedewind B, Michel CR, Reisdorph R, Lopez Gonzalez EDJ, Brenner C, Donovan TE, Lee JC, Chatfield KC, Larson AA, Baker PR 2nd, McCandless SE, Moore Burk MF. Van Hove JLK, et al. Mitochondrion. 2024 Sep;78:101905. doi: 10.1016/j.mito.2024.101905. Epub 2024 May 24. Mitochondrion. 2024. PMID: 38797357 Free PMC article.
Pathogenic ACAD9 variants cause complex I deficiency. Patients presenting in infancy unresponsive to riboflavin have high mortality. ...
Pathogenic ACAD9 variants cause complex I deficiency. Patients presenting in infancy unresponsive to riboflavin have high mort …
Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.
Dewulf JP, Barrea C, Vincent MF, De Laet C, Van Coster R, Seneca S, Marie S, Nassogne MC. Dewulf JP, et al. Mol Genet Metab. 2016 Jul;118(3):185-189. doi: 10.1016/j.ymgme.2016.05.005. Epub 2016 May 13. Mol Genet Metab. 2016. PMID: 27233227
ACAD9 mutation is suspected in cases of elevated lactic acid levels combined with complex I deficiency, and confirmed by ACAD9 gene analysis. ...It is yet unknown whether these cardiac manifestations were related to ACAD9 mutation. In conclusion, this …
ACAD9 mutation is suspected in cases of elevated lactic acid levels combined with complex I deficiency, and confirmed by AC …
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S. Repp BM, et al. Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8. Orphanet J Rare Dis. 2018. PMID: 30025539 Free PMC article.
BACKGROUND: Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with lactic acidosis and car …
BACKGROUND: Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory c …
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.
Monda E, Lioncino M, Caiazza M, Simonelli V, Nesti C, Rubino M, Perna A, Mauriello A, Budillon A, Pota V, Bruno G, Varone A, Nigro V, Santorelli FM, Pacileo G, Russo MG, Frisso G, Sampaolo S, Limongelli G. Monda E, et al. Int J Mol Sci. 2023 May 22;24(10):9108. doi: 10.3390/ijms24109108. Int J Mol Sci. 2023. PMID: 37240454 Free PMC article.
Seven patients were identified: two patients with ACAD9 deficiency (Patient 1 carried the c.1240C>T (p.Arg414Cys) homozygous variant in ACAD9; Patient 2 carried the c.1240C>T (p.Arg414Cys) and the c.1646G>A (p.Ar549Gln) variants in ACAD9); two …
Seven patients were identified: two patients with ACAD9 deficiency (Patient 1 carried the c.1240C>T (p.Arg414Cys) homozygou …
A Late-Onset and Mild Phenotype of Mitochondrial Complex I Deficiency Due to a Novel Reported Variant Within the ACAD9 Gene.
Giguet-Valard AG, Ait-El-Mkadem Saadi S, Duclos S, Lacombe D, Bellance R, Bellance N. Giguet-Valard AG, et al. Int J Mol Sci. 2025 Jul 24;26(15):7128. doi: 10.3390/ijms26157128. Int J Mol Sci. 2025. PMID: 40806260 Free PMC article.
A patient with a mild and late-onset phenotype, suffering from exercise intolerance and hypertrophic cardiomyopathy, was diagnosed as a compound heterozygote of the ACAD9 gene. The first c.1240C> T p.Arg414Cys variant has been previously reported and is known to be resp …
A patient with a mild and late-onset phenotype, suffering from exercise intolerance and hypertrophic cardiomyopathy, was diagnosed as a comp …
Moonlighting cytosolic function of ACAD9: suppression of TRAF6-mediated osteoclastogenesis and protection against osteoporosis.
Wang M, Yuan C, Zhang Y, Peng M, Liu Y, Liu R, Feng Z, Yang Z, Li H, Liu Z, Cheng Y. Wang M, et al. Cell Death Dis. 2026 Mar 26;17(1):362. doi: 10.1038/s41419-026-08626-z. Cell Death Dis. 2026. PMID: 41888097 Free PMC article.
Here, we identify ACAD9 deficiency as a clinically relevant risk factor for fragility fractures and reveal a previously unrecognized cytosolic function of ACAD9 in suppressing osteoclast differentiation, thereby protecting against osteoporosis. ...Additionall …
Here, we identify ACAD9 deficiency as a clinically relevant risk factor for fragility fractures and reveal a previously unreco …
Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.
Schrank B, Schoser B, Klopstock T, Schneiderat P, Horvath R, Abicht A, Holinski-Feder E, Augustis S. Schrank B, et al. Neuromuscul Disord. 2017 May;27(5):473-476. doi: 10.1016/j.nmd.2017.02.005. Epub 2017 Feb 14. Neuromuscul Disord. 2017. PMID: 28279569
ACAD9 mutations are recognized as frequent causes of complex I deficiency. Our patient presented with exercise intolerance, rapid fatigue, and nausea since early childhood. ...Subsequently, the analysis of respiratory chain enzyme activities in muscle revealed sever …
ACAD9 mutations are recognized as frequent causes of complex I deficiency. Our patient presented with exercise intolerance, ra …
20 results