The GBA1 K198E Variant Is Associated with Suppression of Glucocerebrosidase Activity, Autophagy Impairment, Oxidative Stress, Mitochondrial Damage, and Apoptosis in Skin Fibroblasts

Parkinson’s disease (PD) is a multifactorial, chronic, and progressive neurodegenerative disorder inducing movement alterations as a result of the loss of dopaminergic (DAergic) neurons of the pars compacta in the substantia nigra and protein aggregates of alpha synuclein (α-Syn). Although its etiop...

Full description

Autores:

Pérez Abshana, Laura Patricia
Mendívil Pérez, Miguel Ángel
Vélez Pardo, Carlos Alberto
Jiménez del Río, Marlene

Tipo de recurso:

Article of investigation

Fecha de publicación:

2024

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/46454

Acceso en línea:

https://hdl.handle.net/10495/46454

Palabra clave:

Neuronas Dopaminérgicas
Dopaminergic Neurons
Fibroblastos
Fibroblasts
Alfa - Sinucleína
Alpha - Synuclein
Proteína 2 Quinasa Serina - Treonina Rica en Repeticiones de Leucina
Leucine-Rich Repeat Serine - Threonine Protein Kinase-2
Glucosilceramidasa
Glucosylceramidase
Autofagia - Genética
Autophagy - Genetics
Enfermedad de Parkinson
Parkinson disease
https://id.nlm.nih.gov/mesh/D059290
https://id.nlm.nih.gov/mesh/D005347
https://id.nlm.nih.gov/mesh/D051844
https://id.nlm.nih.gov/mesh/D000071158
https://id.nlm.nih.gov/mesh/D005962
https://id.nlm.nih.gov/mesh/D001343
ODS 3: Salud y bienestar. Garantizar una vida sana y promover el bienestar de todos a todas las edades

Rights

openAccess

License

http://creativecommons.org/licenses/by/4.0/