Associated Papers
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.
Poniah P et al.
Genes, 2025
Very Early Onset Familial Alzheimer's Disease Due to Mutation in PSEN1 I143T - First Case Report from South Asia.
Anandan S et al.
Neurology India, 2024
Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.
Petit D et al.
Molecular Psychiatry, 2022
Exploring the Role of PSEN Mutations in the Pathogenesis of Alzheimer's Disease.
Kabir MT et al.
Neurotoxicity Research, 2020
Genetic Markers of Alzheimer's Disease.
Nikolac Perkovic M et al.
Advances in Experimental Medicine and Biology, 2019
Reduced penetrance of the PSEN1 H163Y autosomal dominant Alzheimer mutation: a 22-year follow-up study.
Thordardottir S et al.
Alzheimer's Research & Therapy, 2018
Aβ42/Aβ40 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer's Disease.
Tang N et al.
Journal of Alzheimer's Disease : Jad, 2018
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Peng Y et al.
Human Molecular Genetics, 2017
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
Ryan NS et al.
The Lancet. Neurology, 2016
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Genetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations.
Scahill RI et al.
Journal of Alzheimer's Disease : Jad, 2013
A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features.
Gallo M et al.
Journal of Alzheimer's Disease : Jad, 2011
Mutation analysis of the presenilin 1 N-terminal domain reveals a broad spectrum of gamma-secretase activity toward amyloid precursor protein and other substrates.
Gong P et al.
The Journal of Biological Chemistry, 2010
A novel PS1 gene mutation in a large Aboriginal kindred.
Butler R et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2010
[Alzheimer disease: autosomal dominant forms].
Guyant-Maréchal L et al.
Revue Neurologique, 2009
Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.
Larner AJ et al.
Journal of Alzheimer's Disease : Jad, 2009
Familial cases presenting very early onset autosomal dominant Alzheimer's disease with I143T in presenilin-1 gene: implication for genotype-phenotype correlation.
Arai N et al.
Neurogenetics, 2008
A novel presenilin 1 deletion (p.L166del) associated with early onset familial Alzheimer's disease.
Knight WD et al.
European Journal of Neurology, 2007
The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease.
Larner AJ et al.
Journal of the Neurological Sciences, 2007
Linear patterns of Alzheimer's disease mutations along alpha-helices of presenilins as a tool for PS-1 model construction.
Jozwiak K et al.
Journal of Neurochemistry, 2006
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Interaction of presenilins with FKBP38 promotes apoptosis by reducing mitochondrial Bcl-2.
Wang HQ et al.
Human Molecular Genetics, 2005
Mean age of onset in familial Alzheimer's disease is determined by amyloid beta 42.
Duering M et al.
Neurobiology of Aging, 2005
Random mutagenesis of presenilin-1 identifies novel mutants exclusively generating long amyloid beta-peptides.
Nakaya Y et al.
The Journal of Biological Chemistry, 2005
Prominent behavioural and psychiatric symptoms in early-onset Alzheimer's disease in a sib pair with the presenilin-1 gene R269G mutation.
Doran M et al.
European Archives of Psychiatry and Clinical Neuroscience, 2004
Amino- and carboxyl-terminal mutants of presenilin 1 cause neuronal cell death through distinct toxic mechanisms: Study of 27 different presenilin 1 mutants.
Hashimoto Y et al.
Journal of Neuroscience Research, 2004
A novel highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): Comparison of clinical, neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations.
Dowjat WK et al.
Journal of Alzheimer's Disease : Jad, 2004
Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease.
Heckmann JM et al.
Brain : a Journal of Neurology, 2004
[Familial forms of Alzheimer's disease].
Maréchal L et al.
Presse Medicale (paris, France : 1983), 2003
Early-onset Alzheimer's disease with presenilin-1 M139V mutation: clinical, neuropsychological and neuropathological study.
Larner AJ et al.
European Journal of Neurology, 2003
Early onset familial Alzheimer's disease: Mutation frequency in 31 families.
Janssen JC et al.
Neurology, 2003
Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.
Arango D et al.
American Journal of Medical Genetics, 2001
[Dominant forms of Alzheimer's disease: from genotype to phenotype].
Hannequin D et al.
Revue Neurologique, 2001
Neuropsychological profiles of familial Alzheimer's disease associated with mutations in the presenilin 1 and amyloid precursor protein genes.
Warrington EK et al.
Journal of Neurology, 2001
Presenilin structure, function and role in Alzheimer disease.
Fraser PE et al.
Biochimica Et Biophysica Acta, 2000
Alzheimer's disease due to an intronic presenilin-1 (PSEN1 intron 4) mutation: A clinicopathological study.
Janssen JC et al.
Brain : a Journal of Neurology, 2000
Genetic characterization of cytological region 77A-D harboring the presenilin gene of Drosophila melanogaster.
Lukinova NI et al.
Genetics, 1999
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.
Campion D et al.
American Journal of Human Genetics, 1999
The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors.
Gómez-Isla T et al.
Brain : a Journal of Neurology, 1999
Identification of caspases that cleave presenilin-1 and presenilin-2. Five presenilin-1 (PS1) mutations do not alter the sensitivity of PS1 to caspases.
van de Craen M et al.
Febs Letters, 1999
Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK. Mutations in brief no. 223. Online.
Palmer MS et al.
Human Mutation, 1999
Presymptomatic cognitive deficits in individuals at risk of familial Alzheimer's disease. A longitudinal prospective study.
Fox NC et al.
Brain : a Journal of Neurology, 1998
ApoE genotype is a risk factor in nonpresenilin early-onset Alzheimer's disease families.
Houlden H et al.
American Journal of Medical Genetics, 1998
The presenilins and Alzheimer's disease.
Hutton M et al.
Human Molecular Genetics, 1997
Incomplete penetrance of familial Alzheimer's disease in a pedigree with a novel presenilin-1 gene mutation.
Rossor MN et al.
Lancet (london, England), 1996