Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.D405H
Back to variants list

ACADVL

NM_000018.4:p.D405H

Associated Papers

Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).

Fatehi F et al.

European Journal of Neurology, 2020

Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.

Djouadi F et al.

Cells, 2019

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches.

Gobin-Limballe S et al.

Biochimica Et Biophysica Acta, 2010

PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders.

Djouadi F et al.

Journal of Inherited Metabolic Disease, 2008

Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.

Gregersen N et al.

European Journal of Biochemistry, 2004

Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency.

Merinero B et al.

Journal of Inherited Metabolic Disease, 1999

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

Andresen BS et al.

American Journal of Human Genetics, 1999

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."