High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q53327610

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Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease Lysosomal sorting of amyloid-β by the SORLA receptor is impaired by a familial Alzheimer's disease mutation The genetic landscape of Alzheimer disease: clinical implications and perspectives Risk factor SORL1: from genetic association to functional validation in Alzheimer's disease Multidisciplinary approach to genomics research in Africa: the AfriCRAN model Genomic variants, genes, and pathways of Alzheimer's disease: An overview.Maturational conversion of dendritic early endosomes and their roles in L1-mediated axon growth Toward the treatment and prevention of Alzheimer's disease: rational strategies and recent progress SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.Sortilin Fragments Deposit at Senile Plaques in Human Cerebrum Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene.ADAM10 missense mutations potentiate β-amyloid accumulation by impairing prodomain chaperone function Genetic architectures of psychiatric disorders: the emerging picture and its implications.Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.Identification of rare variants in Alzheimer's disease.EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics.Application of next-generation sequencing technologies in Neurology.α(2A) adrenergic receptor promotes amyloidogenesis through disrupting APP-SorLA interaction The role of the retromer complex in aging-related neurodegeneration: a molecular and genomic review.Coding mutations in SORL1 and Alzheimer disease Cholesterol metabolism and homeostasis in the brain Elucidating molecular phenotypes caused by the SORL1 Alzheimer's disease genetic risk factor using human induced pluripotent stem cells.Genomics in neurological disorders.Noradrenergic dysfunction in Alzheimer's disease.Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci.Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.Cholesterol: its regulation and role in central nervous system disorders.Soluble LR11/SorLA represses thermogenesis in adipose tissue and correlates with BMI in humans.Linkage analyses in Caribbean Hispanic families identify novel loci associated with familial late-onset Alzheimer's disease.The role of intracellular trafficking and the VPS10d receptors in Alzheimer's disease.Risk prediction for sporadic Alzheimer's disease using genetic risk score in the Han Chinese population Vps10 family proteins and the retromer complex in aging-related neurodegeneration and diabetes.The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida Protein sorting motifs in the cytoplasmic tail of SorCS1 control generation of Alzheimer's amyloid-β peptide ABCA7 rare variants and Alzheimer disease risk SORLA facilitates insulin receptor signaling in adipocytes and exacerbates obesity A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease SNX27 and SORLA Interact to Reduce Amyloidogenic Subcellular Distribution and Processing of Amyloid Precursor Protein.Genetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations.

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P2860

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

http://www.wikidata.org/entity/Q53327610

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P2860

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

MutationTaster evaluates disease-causing potential of sequence alterations

Massively parallel sequencing and rare disease.

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum

Meta-analysis of the association between variants in SORL1 and Alzheimer disease.

The Vps10p-domain receptor family.

Molecular dissection of the interaction between amyloid precursor protein and its neuronal trafficking receptor SorLA/LR11.

[Epidemiological studies on aging in France: from the PAQUID study to the Three-City study].

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