Associated Papers
Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.
Podleśny-Drabiniok A et al.
Cell Reports, 2025
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
Effects of presenilin-1 familial Alzheimer's disease mutations on γ-secretase activation for cleavage of amyloid precursor protein.
Do HN et al.
Communications Biology, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.
Willumsen N et al.
Brain Pathology (zurich, Switzerland), 2022
Two novel presenilin-1 mutations (I249L and P433S) in early onset Chinese Alzheimer's pedigrees and their functional characterization.
Shen L et al.
Biochemical and Biophysical Research Communications, 2019
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
Computational Screening and Exploration of Disease-Associated Genes in Alzheimer's Disease.
Jamal S et al.
Journal of Cellular Biochemistry, 2017
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
Ryan NS et al.
The Lancet. Neurology, 2016
Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.
Li N et al.
Frontiers in Aging Neuroscience, 2016
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
Association between variant amyloid deposits and motor deficits in FAD-associated presenilin-1 mutations: A systematic review.
Zhang S et al.
Neuroscience and Biobehavioral Reviews, 2015
Ryanodine receptors: physiological function and deregulation in Alzheimer disease.
Del Prete D et al.
Molecular Neurodegeneration, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Changed membrane integration and catalytic site conformation are two mechanisms behind the increased Aβ42/Aβ40 ratio by presenilin 1 familial Alzheimer-linked mutations.
Wanngren J et al.
Febs Open Bio, 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
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
Cerebral microbleeds in familial Alzheimer's disease.
Ryan NS et al.
Brain : a Journal of Neurology, 2012
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
Clinical and genetic analysis of a Chilean family with early-onset autosomal dominant Alzheimer's disease.
Sinning M et al.
Journal of Alzheimer's Disease : Jad, 2010
Depression and psychiatric symptoms preceding onset of dementia in a family with early-onset Alzheimer disease with a novel PSEN1 mutation.
Kasuga K et al.
Journal of Neurology, 2009
Presenilin-mediated signal transduction.
Cowburn RF et al.
Physiology & Behavior, 2007
Presenilin mutations linked to familial Alzheimer's disease reduce endoplasmic reticulum and Golgi apparatus calcium levels.
Zatti G et al.
Cell Calcium, 2006
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Mean age of onset in familial Alzheimer's disease is determined by amyloid beta 42.
Duering M et al.
Neurobiology of Aging, 2005
Pathological and clinical heterogeneity of presenilin 1 gene mutations.
Menéndez M
Journal of Alzheimer's Disease : Jad, 2004
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
Gamma-secretase activity of presenilin 1 regulates acetylcholine muscarinic receptor-mediated signal transduction.
Popescu BO et al.
The Journal of Biological Chemistry, 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
[Alzheimer's disease due to presenilin mutations].
Tabira T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2004
Contribution of presenilin/gamma-secretase to calsenilin-mediated apoptosis.
Jo DG et al.
Biochemical and Biophysical Research Communications, 2003
A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion.
Furuya H et al.
Journal of the Neurological Sciences, 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
Akt activity in presenilin 1 wild-type and mutation transfected human SH-SY5Y neuroblastoma cells after serum deprivation and high glucose stress.
Vestling M et al.
Journal of Neuroscience Research, 2001
Caspase cleavage of exon 9 deleted presenilin-1 is an early event in apoptosis induced by calcium ionophore A 23187 in SH-SY5Y neuroblastoma cells.
Popescu BO et al.
Journal of Neuroscience Research, 2001
Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype.
Verkkoniemi A et al.
Journal of Neuropathology and Experimental Neurology, 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 presenilin-1 exon 9 deletion and L250S mutations sensitize SH-SY5Y neuroblastoma cells to hyperosmotic stress-induced apoptosis.
Tanii H et al.
Neuroscience, 2000
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.
Campion D et al.
American Journal of Human Genetics, 1999
Adult-type metachromatic leukodystrophy with a compound heterozygote mutation showing character change and dementia.
Fukutani Y et al.
Psychiatry and Clinical Neurosciences, 1999
ApoE genotype is a risk factor in nonpresenilin early-onset Alzheimer's disease families.
Houlden H et al.
American Journal of Medical Genetics, 1998
Increased Abeta42(43) from cell lines expressing presenilin 1 mutations.
Mehta ND et al.
Annals of Neurology, 1998
Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene.
Harvey RJ et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 1998
Presenile because of presenilin: the presenilin genes and early onset Alzheimer's disease.
Haass C
Current Opinion in Neurology, 1996
The presenilin genes: a new gene family involved in Alzheimer disease pathology.
Cruts M et al.
Human Molecular Genetics, 1996
Protein misfolding in Alzheimer's and Parkinson's disease: genetics and molecular mechanisms.
Forloni G et al.
Neurobiology of Aging, 0
Clinical, pathological, and biochemical spectrum of Alzheimer disease associated with PS-1 mutations.
Lleó A et al.
The American Journal of Geriatric Psychiatry : Official Journal of the American Association for Geriatric Psychiatry, 0
Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations.
Mendez MF et al.
American Journal of Alzheimer's Disease and Other Dementias, 0