Cargando…
Mitochondrial Mechanisms of LRRK2 G2019S Penetrance
Several mutations in leucine-rich repeat kinase-2 (LRRK2) have been associated with Parkinson's disease (PD). The most common substitution, G2019S, interferes with LRRK2 kinase activity, which is regulated by autophosphorylation. Yet, the penetrance of this gain-of-function mutation is incomple...
Autores principales: | Delcambre, Sylvie, Ghelfi, Jenny, Ouzren, Nassima, Grandmougin, Léa, Delbrouck, Catherine, Seibler, Philip, Wasner, Kobi, Aasly, Jan O., Klein, Christine, Trinh, Joanne, Pereira, Sandro L., Grünewald, Anne |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7477385/ https://www.ncbi.nlm.nih.gov/pubmed/32982917 http://dx.doi.org/10.3389/fneur.2020.00881 |
Ejemplares similares
-
Mitochondrial DNA Deletions Discriminate Affected from Unaffected LRRK2 Mutation Carriers
por: Ouzren, Nassima, et al.
Publicado: (2019) -
Nanopore Single-Molecule Sequencing for Mitochondrial DNA Methylation Analysis: Investigating Parkin-Associated Parkinsonism as a Proof of Concept
por: Lüth, Theresa, et al.
Publicado: (2021) -
The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci
por: Germer, Elisabeth Luisa, et al.
Publicado: (2019) -
LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort
por: Usnich, Tatiana, et al.
Publicado: (2021) -
Genome-wide case-only analysis of gene-gene interactions with known Parkinson’s disease risk variants reveals link between LRRK2 and SYT10
por: Aleknonytė-Resch, Milda, et al.
Publicado: (2023)