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Year Number of Results
2015 2
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New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucińska-Więckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosińska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Płoski R. Pronicka E, et al. J Transl Med. 2016 Jun 12;14(1):174. doi: 10.1186/s12967-016-0930-9. J Transl Med. 2016. PMID: 27290639 Free PMC article.
In 47 patients, changes in 31 MD-related genes (ACAD9, ADCK3, AIFM1, CLPB, COX10, DLD, EARS2, FBXL4, MTATP6, MTFMT, MTND1, MTND3, MTND5, NAXE, NDUFS6, NDUFS7, NDUFV1, OPA1, PARS2, PC, PDHA1, POLG, RARS2, RRM2B, SCO2, SERAC1, SLC19A3, SLC25A12, TAZ, TMEM126B, VARS2) were id …
In 47 patients, changes in 31 MD-related genes (ACAD9, ADCK3, AIFM1, CLPB, COX10, DLD, EARS2, FBXL4, MTATP6, MTFMT, MTND1, MTND3, MTN …
Riboflavin in Neurological Diseases: A Narrative Review.
Plantone D, Pardini M, Rinaldi G. Plantone D, et al. Clin Drug Investig. 2021 Jun;41(6):513-527. doi: 10.1007/s40261-021-01038-1. Epub 2021 Apr 22. Clin Drug Investig. 2021. PMID: 33886098 Review.
These include multiple acyl-CoA-dehydrogenase deficiency (which is caused by ETFDH gene mutations in the majority of the cases, or mutations in the ETFA and ETFB genes in a minority), mutations of ACAD9 gene, mutations of AIFM1 gene, mutations of the NDUFV1 and NDUFV2 gene …
These include multiple acyl-CoA-dehydrogenase deficiency (which is caused by ETFDH gene mutations in the majority of the cases, or mutations …
Genome-wide study identifies novel genes associated with bone toxicities in children with acute lymphoblastic leukaemia.
Zhu Q, Nambiar R, Schultz E, Gao X, Liang S, Flamand Y, Stevenson K, Cole PD, Gennarini L, Harris MH, Kahn JM, Ladas EJ, Athale UH, Hoa Tran T, Michon B, Welch JJG, Sallan SE, Silverman LB, Kelly KM, Yao S. Zhu Q, et al. Br J Haematol. 2024 Nov;205(5):1889-1898. doi: 10.1111/bjh.19696. Epub 2024 Aug 14. Br J Haematol. 2024. PMID: 39143423
The variant was an eQTL for two nearby genes, CD93 and THBD. In TWAS, genetically predicted ACAD9 expression was associated with an increased risk of bone toxicities, which was confirmed by meta-analysis of the two cohorts (meta-p = 2.4 10(-6)). ...
The variant was an eQTL for two nearby genes, CD93 and THBD. In TWAS, genetically predicted ACAD9 expression was associated with an i …
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 patien …
Seven patients were identified: two patients with ACAD9 deficiency (Patient 1 carried the c.1240C>T (p.Arg414Cys) homozygous varia …
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 pred …
Exome sequencing identified homozygous variants in RAB27A, FBP1 (Fructose-1,6-bisphosphatase 1) and ACAD9 (Acyl-CoA …
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. ...Other organ involvement …
Acyl-CoA dehydrogenase family, member 9 (ACAD9) mutation is a frequent, usually fatal cause …
The origin of the supernumerary subunits and assembly factors of complex I: A treasure trove of pathway evolution.
Elurbe DM, Huynen MA. Elurbe DM, et al. Biochim Biophys Acta. 2016 Jul;1857(7):971-9. doi: 10.1016/j.bbabio.2016.03.027. Epub 2016 Apr 15. Biochim Biophys Acta. 2016. PMID: 27048931 Free article. Review.
In between are proteins that have retained their molecular function, which however appears unrelated to complex I, like ACAD9, or proteins in which amino acids of the active site are conserved but for which no enzymatic activity has been reported, like NDUFA10. ...Within t …
In between are proteins that have retained their molecular function, which however appears unrelated to complex I, like ACAD9, or pro …
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
Acyl-CoA dehydrogenase 9 (ACAD9) is a mitochondrial protein involved in oxidative phosphorylation complex I biogenesis. ...ACAD9 mutation is suspected in cases of elevated lactic acid levels combined with complex I deficiency, and confirmed by ACAD9 gene anal …
Acyl-CoA dehydrogenase 9 (ACAD9) is a mitochondrial protein involved in oxidative phosphorylation complex I biogenesis. ...ACAD9 …
Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
Leslie N, Wang X, Peng Y, Valencia CA, Khuchua Z, Hata J, Witte D, Huang T, Bove KE. Leslie N, et al. Hum Pathol. 2016 Mar;49:27-32. doi: 10.1016/j.humpath.2015.09.039. Epub 2015 Oct 28. Hum Pathol. 2016. PMID: 26826406
Whole-exome sequencing revealed compound heterozygous variants in the ACAD9 gene: c.187G>T (p.E63*) and c.941T>C (p.L314P). The nonsense mutation causes late infantile lethality; the missense variant is novel. Autopsy-derived fibroblasts had reduced complex I activit …
Whole-exome sequencing revealed compound heterozygous variants in the ACAD9 gene: c.187G>T (p.E63*) and c.941T>C (p.L314P). The …
A Comprehensive Prognostic Model for Colon Adenocarcinoma Depending on Nuclear-Mitochondrial-Related Genes.
Lv L, Huang Y, Li Q, Wu Y, Zheng L. Lv L, et al. Technol Cancer Res Treat. 2024 Jan-Dec;23:15330338241258570. doi: 10.1177/15330338241258570. Technol Cancer Res Treat. 2024. PMID: 38832431 Free PMC article.
An optimal combination of nine differentially expressed NMRGs was finally obtained, including LARS2, PARS2, ETHE1, LRPPRC, TMEM70, AARS2, ACAD9, VARS2, and ATP8A2. The high-RS group had more inflamed immune features, including T and CD4(+) memory cell activation. ...
An optimal combination of nine differentially expressed NMRGs was finally obtained, including LARS2, PARS2, ETHE1, LRPPRC, TMEM70, AARS2, …
22 results