Lysosomal dysfunction impairs mitochondrial quality control and is associated with neurodegeneration in TBCK encephaloneuronopathy

Biallelic variants in the TBCK gene cause intellectual disability with remarkable clinical variability, ranging from static encephalopathy to progressive neurodegeneration (TBCK-Encephaloneuronopathy). The biological factors underlying variable disease penetrance remain unknown. Since previous studi...

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Detalles Bibliográficos
Autores principales: Tintos-Hernández, Jesus A, Santana, Adrian, Keller, Kierstin N, Ortiz-González, Xilma R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8603245/
https://www.ncbi.nlm.nih.gov/pubmed/34816123
http://dx.doi.org/10.1093/braincomms/fcab215

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8603245/
https://www.ncbi.nlm.nih.gov/pubmed/34816123
http://dx.doi.org/10.1093/braincomms/fcab215

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