Mechanistic insights into the loss-of-function mechanisms of rare human D-amino acid oxidase variants implicated in amyotrophic lateral sclerosis

Impaired enzymatic activity in D-amino acid oxidase (DAAO) caused by missense mutations has been shown to trigger amyotrophic lateral sclerosis (ALS) through an abnormal accumulation of D-serine in the spinal cord. While loss of enzymatic functions of certain ALS-causing DAAO variants have been stud...

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Detalles Bibliográficos
Autores principales: Padhi, Aditya K., Zhang, Kam Y. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555490/
https://www.ncbi.nlm.nih.gov/pubmed/33051492
http://dx.doi.org/10.1038/s41598-020-74048-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555490/
https://www.ncbi.nlm.nih.gov/pubmed/33051492
http://dx.doi.org/10.1038/s41598-020-74048-2

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