SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

(2019) Brian W. Kunkle et al.   NATURE GENETICS

SORL1 Variants in Familial Alzheimer’s Disease

(2018) Estrella Gómez-Tortosa et al.   JOURNAL OF ALZHEIMERS DISEASE

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer’s Disease Patient

(2018) Kilan Le Guennec et al.   JOURNAL OF ALZHEIMERS DISEASE

Mutation burden profile in familial Alzheimer's disease cases from India

(2018) Adhikarla Syama et al.   NEUROBIOLOGY OF AGING

Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease

(2018) Neha S. Raghavan et al.   Annals of Clinical and Translational Neurology

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

(2018) Joshua C. Bis et al.   MOLECULAR PSYCHIATRY

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease

(2018) Gaël Nicolas et al.   Alzheimers & Dementia

Fibronectin type III domain-containing protein 5 interacts with APP and decreases amyloid β production in Alzheimer’s disease

(2018) Yasuha Noda et al.   Molecular Brain

Characterization of pathogenic SORL1 genetic variants for association with Alzheimer’s disease: a clinical interpretation strategy

(2017) Henne Holstege et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer’s Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity

(2017) Eva Louwersheimer et al.   JOURNAL OF ALZHEIMERS DISEASE

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

(2017) Rebecca Sims et al.   NATURE GENETICS

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

(2017) Céline Bellenguez et al.   NEUROBIOLOGY OF AGING

Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene

(2017) Håkan Thonberg et al.   Acta Neuropathologica Communications

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease

(2016) Jan Verheijen et al.   ACTA NEUROPATHOLOGICA

Risk factor SORL1: from genetic association to functional validation in Alzheimer’s disease

(2016) Olav M. Andersen et al.   ACTA NEUROPATHOLOGICA

Sorting receptor SORLA: cellular mechanisms and implications for disease

(2016) Vanessa Schmidt et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

SORL1 variants across Alzheimer’s disease European American cohorts

(2016) Maria Victoria Fernández et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

From Common to Rare Variants: The Genetic Component of Alzheimer Disease

(2016) Gaël Nicolas et al.   HUMAN HEREDITY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

ABCA7 rare variants and Alzheimer disease risk

(2016) Kilan Le Guennec et al.   NEUROLOGY

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer’s Disease

(2016) Celeste Sassi et al.   PLoS One

Coding mutations inSORL1and Alzheimer disease

(2015) Badri N. Vardarajan et al.   ANNALS OF NEUROLOGY

Elucidating Molecular Phenotypes Caused by the SORL1 Alzheimer’s Disease Genetic Risk Factor Using Human Induced Pluripotent Stem Cells

(2015) Jessica E. Young et al.   Cell Stem Cell

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study

(2015) Elise Cuyvers et al.   LANCET NEUROLOGY

SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease

(2015) G Nicolas et al.   MOLECULAR PSYCHIATRY

Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease

(2015) Stacy Steinberg et al.   NATURE GENETICS

The influence of genetic variants in SORL1 gene on the manifestation of Alzheimer's disease

(2015) Eva Louwersheimer et al.   NEUROBIOLOGY OF AGING

Lysosomal Sorting of Amyloid-  by the SORLA Receptor Is Impaired by a Familial Alzheimer's Disease Mutation

(2014) S. Caglayan et al.   Science Translational Medicine

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

(2013) Jean-Charles Lambert et al.   NATURE GENETICS

SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians

(2013) Akinori Miyashita et al.   PLoS One

Identification of Alzheimer Disease Risk Genotype That Predicts Efficiency of SORL1 Expression in the Brain

(2012) Safak Caglayan   ARCHIVES OF NEUROLOGY

High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

(2012) C Pottier et al.   MOLECULAR PSYCHIATRY

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

(2012) Thorlakur Jonsson et al.   NATURE

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

(2012) Thorlakur Jonsson et al.   NEW ENGLAND JOURNAL OF MEDICINE

TREM2 Variants in Alzheimer's Disease

(2012) Rita Guerreiro et al.   NEW ENGLAND JOURNAL OF MEDICINE

Meta-analysis of the Association Between Variants in SORL1 and Alzheimer Disease

(2011) Christiane Reitz   ARCHIVES OF NEUROLOGY

Impact of SORL1 Single Nucleotide Polymorphisms on Alzheimer’s Disease Cerebrospinal Fluid Markers

(2011) Panagiotis Alexopoulos et al.   DEMENTIA AND GERIATRIC COGNITIVE DISORDERS

APOE and Alzheimer disease: a major gene with semi-dominant inheritance

(2011) E Genin et al.   MOLECULAR PSYCHIATRY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Association of Distinct Variants in SORL1 With Cerebrovascular and Neurodegenerative Changes Related to Alzheimer Disease

(2008) Karen T. Cuenco   ARCHIVES OF NEUROLOGY

SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian population

(2008) Karolien Bettens et al.   HUMAN MUTATION

Sortilin-related Receptor with A-type Repeats (SORLA) Affects the Amyloid Precursor Protein-dependent Stimulation of ERK Signaling and Adult Neurogenesis

(2008) Michael Rohe et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Loss of LR11/SORLA Enhances Early Pathology in a Mouse Model of Amyloidosis: Evidence for a Proximal Role in Alzheimer's Disease

(2008) S. E. Dodson et al.   JOURNAL OF NEUROSCIENCE

SORL1 variants and risk of late-onset Alzheimer’s disease

(2007) Yonghong Li et al.   NEUROBIOLOGY OF DISEASE