Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Familial Alzheimer's disease mutation identifies novel role of SORLA in release of neurotrophic exosomes.
Juul-Madsen K et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025
Haploinsufficiency and Alzheimer's Disease: The Possible Pathogenic and Protective Genetic Factors.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2024
The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer's disease.
Jensen AMG et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
SORL1 is a receptor for tau that promotes tau seeding.
Cooper JM et al.
The Journal of Biological Chemistry, 2024
Pharmacologic enhancement of retromer rescues endosomal pathology induced by defects in the Alzheimer's gene SORL1.
Mishra S et al.
Stem Cell Reports, 2023
Potentially Pathogenic SORL1 Mutations Observed in Autosomal-Dominant Cases of Alzheimer's Disease Do Not Modulate APP Physiopathological Processing.
Bauer C et al.
Cells, 2023
Cell-type-specific regulation of APOE and CLU levels in human neurons by the Alzheimer's disease risk gene SORL1.
Lee H et al.
Cell Reports, 2023
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.
Schramm C et al.
Genome Medicine, 2022
Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.
Khani M et al.
Molecular Neurodegeneration, 2022
Mutations in SORL1 and MTHFDL1 possibly contribute to the development of Alzheimer's disease in a multigenerational Colombian Family.
Tejada Moreno JA et al.
Plos One, 2022
Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease.
Rovelet-Lecrux A et al.
Acta Neuropathologica Communications, 2021
SORL1 mutation in a Greek family with Parkinson's disease and dementia.
Xiromerisiou G et al.
Annals of Clinical and Translational Neurology, 2021
Novel Rare SORL1 Variants in Early-Onset Dementia.
Korpioja A et al.
Journal of Alzheimer's Disease : Jad, 2021
Sorting Out the Role of the Sortilin-Related Receptor 1 in Alzheimer's Disease.
Barthelson K et al.
Journal of Alzheimer's Disease Reports, 2020
New Insights into the Molecular Bases of Familial Alzheimer's Disease.
D'Argenio V et al.
Journal of Personalized Medicine, 2020
SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data.
Campion D et al.
Acta Neuropathologica, 2019
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
Giau VV et al.
Scientific Reports, 2019
Genetic Study of Alzheimer's Disease in Saudi Population.
El Bitar F et al.
Journal of Alzheimer's Disease : Jad, 2019
Untangling Genetic Risk for Alzheimer's Disease.
Pimenova AA et al.
Biological Psychiatry, 2018
SORL1 Variants in Familial Alzheimer's Disease.
Gómez-Tortosa E et al.
Journal of Alzheimer's Disease : Jad, 2018
Risk factor SORL1: from genetic association to functional validation in Alzheimer's disease.
Andersen OM et al.
Acta Neuropathologica, 2016
A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease.
Verheijen J et al.
Acta Neuropathologica, 2016
Genetic variations underlying Alzheimer's disease: evidence from genome-wide association studies and beyond.
Cuyvers E et al.
The Lancet. Neurology, 2016
SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease.
Nicolas G et al.
Molecular Psychiatry, 2016
From Common to Rare Variants: The Genetic Component of Alzheimer Disease.
Nicolas G et al.
Human Heredity, 2016
Structural basis for amyloidogenic peptide recognition by sorLA.
Kitago Y et al.
Nature Structural & Molecular Biology, 2015
Coding mutations in SORL1 and Alzheimer disease.
Vardarajan BN et al.
Annals of Neurology, 2015
The Role of SORL1 in Alzheimer's Disease.
Yin RH et al.
Molecular Neurobiology, 2015
Lysosomal sorting of amyloid-β by the SORLA receptor is impaired by a familial Alzheimer's disease mutation.
Caglayan S et al.
Science Translational Medicine, 2014
High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease.
Pottier C et al.
Molecular Psychiatry, 2012