A familial missense variant in the Alzheimer’s Disease gene SORL1 impairs its maturation and endosomal sorting

The SORL1 gene has recently emerged as a strong Alzheimer’s Disease (AD) risk gene. Over 500 different variants have been identified in the gene and the contribution of individual variants to AD development and progression is still largely unknown. Here, we describe a family consisting of 2 parents...

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Detalles Bibliográficos
Autores principales: Fazeli, Elnaz, Child, Daniel D., Bucks, Stephanie A., Stovarsky, Miki, Edwards, Gabrielle, Rose, Shannon E., Yu, Chang-En, Latimer, Caitlin, Kitago, Yu, Bird, Thomas, Jayadev, Suman, Andersen, Olav M., Young, Jessica E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10349966/
https://www.ncbi.nlm.nih.gov/pubmed/37461597
http://dx.doi.org/10.1101/2023.07.01.547348

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