Loss-of-Function NUBPL Mutation May Link Parkinson's Disease to Recessive Complex I Deficiency

In an unbiased genome-wide screen for copy number variants (CNVs) on a cohort of Parkinson's disease (PD) patients, we identified in one patient a complex chromosomal rearrangement involving the nucleotide binding protein-like (NUBPL) gene on chromosome 14q12. We noted that mutations in the NUB...

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Detalles Bibliográficos
Autores principales: Eis, Peggy S., Huang, Neng, Langston, J. William, Hatchwell, Eli, Schüle, Birgitt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667465/
https://www.ncbi.nlm.nih.gov/pubmed/33224084
http://dx.doi.org/10.3389/fneur.2020.555961

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667465/
https://www.ncbi.nlm.nih.gov/pubmed/33224084
http://dx.doi.org/10.3389/fneur.2020.555961

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