The Common K333Q Polymorphism in Long-chain Acyl-CoA Dehydrogenase (LCAD) Reduces Enzyme Stability and Function

The fatty acid oxidation enzyme long-chain acyl-CoA dehydrogenase (LCAD) is expressed at high levels in human alveolar type II (ATII) cells in the lung. A common polymorphism causing an amino acid substitution (K333Q) was previously linked to a loss of LCAD antigen in the lung tissue in sudden infan...

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Publicado no:Mol Genet Metab
Main Authors: Beck, Megan E., Zhang, Yuxun, Bharathi, Sivakama S., Kosmider, Beata, Bahmed, Karim, Dahmer, Mary K., Nogee, Lawrence M., Goetzman, Eric S.
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7606262/
https://ncbi.nlm.nih.gov/pubmed/32389575
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2020.04.005
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