Mutations in SORL1 and MTHFDL1 possibly contribute to the development of Alzheimer's disease in a multigenerational Colombian Family

ABSTRACT: Alzheimer's disease (AD) is the most common cause of dementia in the elderly, affecting over 50 million people worldwide in 2020 and this number will triple to 152 million by 2050. Much of the increase will be in developing countries like Colombia. In familial forms, highly penetrant...

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Autores:

Tejada Moreno, Johanna Alexandra
Villegas Lanau, Carlos Andrés
Madrigal Zapata, Lucia del Socorro
Baena Pineda, Ana Yulied
Vélez Hernández, Juan Esteban
Campo Nieto, Omer
Soto Ospina, Johnny Alejandro
Bedoya Berrío, Gabriel de Jesús
Rishishwar, Lavanya
Norris, Emily T
Chande, Aroon T
Jordan, I King
Araque Marín, Pedronel

Tipo de recurso:

Article of investigation

Fecha de publicación:

2022

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/41082

Acceso en línea:

https://hdl.handle.net/10495/41082

Palabra clave:

Alzheimer Disease
Enfermedad de Alzheimer
Amyloid beta-Protein Precursor
Precursor de Proteína beta-Amiloide
Exome Sequencing
Secuenciación del Exoma
Genetic Predisposition to Disease
Predisposición Genética a la Enfermedad
LDL-Receptor Related Proteins
Proteínas Relacionadas con Receptor de LDL
Membrane Transport Proteins
Proteínas de Transporte de Membrana
Mutation
Mutación
Presenilin-1
Presenilina-1
https://id.nlm.nih.gov/mesh/D000544
https://id.nlm.nih.gov/mesh/D016564
https://id.nlm.nih.gov/mesh/D000073359
https://id.nlm.nih.gov/mesh/D020022
https://id.nlm.nih.gov/mesh/D026502
https://id.nlm.nih.gov/mesh/D026901
https://id.nlm.nih.gov/mesh/D009154
https://id.nlm.nih.gov/mesh/D053764

Rights

openAccess

License

http://creativecommons.org/licenses/by/2.5/co/