Catalytic Function of PLA2G6 Is Impaired by Mutations Associated with Infantile Neuroaxonal Dystrophy but Not Dystonia-Parkinsonism

BACKGROUND: Mutations in the PLA2G6 gene have been identified in autosomal recessive neurodegenerative diseases classified as infantile neuroaxonal dystrophy (INAD), neurodegeneration with brain iron accumulation (NBIA), and dystonia-parkinsonism. These clinical syndromes display two significantly d...

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Detalles Bibliográficos
Autores principales: Engel, Laura A., Jing, Zheng, O'Brien, Daniel E., Sun, Mengyang, Kotzbauer, Paul T.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2944820/
https://www.ncbi.nlm.nih.gov/pubmed/20886109
http://dx.doi.org/10.1371/journal.pone.0012897

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2944820/
https://www.ncbi.nlm.nih.gov/pubmed/20886109
http://dx.doi.org/10.1371/journal.pone.0012897

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