User profiles for Alison Goate
 | Alison GoateProfessor of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai Verified email at mssm.edu Cited by 122901 |
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
A Goate, MC Chartier-Harlin, M Mullan, J Brown… - Nature, 1991 - nature.com
A LOCUS segregating with familial Alzheimer's disease (AD) has been mapped to
chromosome 21 (ref. 1), close to the amyloid precursor protein (APP) gene 2–5 . Recombinants …
chromosome 21 (ref. 1), close to the amyloid precursor protein (APP) gene 2–5 . Recombinants …
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
Eleven susceptibility loci for late-onset Alzheimer's disease (LOAD) were identified by previous
studies; however, a large portion of the genetic risk for this disease remains unexplained. …
studies; however, a large portion of the genetic risk for this disease remains unexplained. …
[HTML][HTML] Clinical and biomarker changes in dominantly inherited Alzheimer's disease
…, TLS Benzinger, AM Fagan, A Goate… - … England Journal of …, 2012 - Mass Medical Soc
Background The order and magnitude of pathologic processes in Alzheimer's disease are
not well understood, partly because the disease develops over many years. Autosomal …
not well understood, partly because the disease develops over many years. Autosomal …
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
Thirteen families have been described with an autosomal dominantly inherited dementia
named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) 1 , 2 , 3 …
named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) 1 , 2 , 3 …
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
We undertook a two-stage genome-wide association study (GWAS) of Alzheimer's disease (AD)
involving over 16,000 individuals, the most powerful AD GWAS to date. In stage 1 (3,941 …
involving over 16,000 individuals, the most powerful AD GWAS to date. In stage 1 (3,941 …
[HTML][HTML] TREM2 Variants in Alzheimer's Disease
Background Homozygous loss-of-function mutations in TREM2, encoding the triggering
receptor expressed on myeloid cells 2 protein, have previously been associated with an …
receptor expressed on myeloid cells 2 protein, have previously been associated with an …
Alzheimer's disease risk genes and mechanisms of disease pathogenesis
We review the genetic risk factors for late-onset Alzheimer’s disease (AD) and their role in
AD pathogenesis. More recent advances in understanding of the human genome—…
AD pathogenesis. More recent advances in understanding of the human genome—…
[HTML][HTML] Risk prediction of late-onset Alzheimer's disease implies an oligogenic architecture
…, RE Marioni, MJ Wright, AM Goate… - Nature …, 2020 - nature.com
Genetic association studies have identified 44 common genome-wide significant risk loci for
late-onset Alzheimer’s disease (LOAD). However, LOAD genetic architecture and prediction …
late-onset Alzheimer’s disease (LOAD). However, LOAD genetic architecture and prediction …
[HTML][HTML] New insights into the genetic etiology of Alzheimer's disease and related dementias
…, R Ghidoni, I Giegling, G Giorgio, AM Goate… - Nature …, 2022 - nature.com
Abstract Characterization of the genetic landscape of Alzheimer’s disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …
dementias (ADD) provides a unique opportunity for a better understanding of the associated …
A presenilin-1-dependent γ-secretase-like protease mediates release of Notch intracellular domain
Signalling through the receptor protein Notch, which is involved in crucial cell-fate decisions
during development, requires ligand-induced cleavage of Notch. This cleavage occurs …
during development, requires ligand-induced cleavage of Notch. This cleavage occurs …