Familial Alzheimer's disease-associated presenilin-1 alters cerebellar activity and calcium homeostasis

Familial Alzheimer’s disease (FAD) is characterized by autosomal dominant heritability and early disease onset. Mutations in the gene encoding presenilin-1 (PS1) are found in approximately 80% of cases of FAD, with some of these patients presenting cerebellar damage with amyloid plaques and ataxia w...

Full description

Autores:

Villegas Lanau, Carlos Andres
Lopera Restrepo, Francisco Javier
Sepúlveda Fallad, Diego
Barrera Ocampo, Alvaro Andrés
Hagel, Christian
Korwitz, Anne
Vinueza Veloz, María Fernanda
Zhou, Kuikui
Schonewille, Martijn
Zhou, Haibo
Velázquez Pérez, Luis
Rodríguez Labrada, Roberto
Ferrer, Isidro
Langer, Thomas
De Zeeuw, Chris I.
Glatzel, Markus

Tipo de recurso:

Article of investigation

Fecha de publicación:

2014

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/47818

Acceso en línea:

https://hdl.handle.net/10495/47818

Palabra clave:

610 - Medicina y salud
Enfermedad de Alzheimer
Alzheimer Disease
Sustitución de AminoácidosEspañol
Amino Acid Substitution
Calcio - metabolismo
Calcium - metabolism
Genes Dominantes
Genes, Dominant
Modelos Neurológicos
Models, Neurological
Mutación Missense
Mutation, Missense
Presenilina-1
Presenilin-1
Células de Purkinje
Purkinje Cells
Ratones Endogámicos C57BL
Mice, Inbred C57BL
Ratones Mutantes
Mice, Mutant Strains
https://id.nlm.nih.gov/mesh/D000544
https://id.nlm.nih.gov/mesh/D019943
https://id.nlm.nih.gov/mesh/D002118
https://id.nlm.nih.gov/mesh/D005799
https://id.nlm.nih.gov/mesh/D008959
https://id.nlm.nih.gov/mesh/D020125
https://id.nlm.nih.gov/mesh/D053764
https://id.nlm.nih.gov/mesh/D011689
https://id.nlm.nih.gov/mesh/D008810
https://id.nlm.nih.gov/mesh/D008817
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-nc-sa/4.0/