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
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Discovery and validation of dominantly inherited Alzheimer's disease mutations in populations from Latin America.
Takada LT et al.
Alzheimer's Research & Therapy, 2022
Plasma amyloid-β ratios in autosomal dominant Alzheimer's disease: the influence of genotype.
O'Connor A et al.
Brain : a Journal of Neurology, 2021
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
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
Ryan NS et al.
The Lancet. Neurology, 2016
Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database.
Ringman JM et al.
Journal of Neuropathology and Experimental Neurology, 2016
PSEN1 L226F mutation in a patient with early-onset Alzheimer's disease in Korea.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
Alzheimer's disease-causing proline substitutions lead to presenilin 1 aggregation and malfunction.
Ben-Gedalya T et al.
The Embo Journal, 2015
A Unified Hypothesis of Early- and Late-Onset Alzheimer's Disease Pathogenesis.
Atwood CS et al.
Journal of Alzheimer's Disease : Jad, 2015
Upregulation of PGC-1α expression by Alzheimer's disease-associated pathway: presenilin 1/amyloid precursor protein (APP)/intracellular domain of APP.
Robinson A et al.
Aging Cell, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer's disease and spastic paraparesis.
Jiménez Caballero PE et al.
European Journal of Neurology, 2008
Structure nor stability of the transmembrane spanning 6/7 domain of presenilin I correlates with pathogenicity.
Jeppesen B et al.
Biochemical and Biophysical Research Communications, 2007
Mean age of onset in familial Alzheimer's disease is determined by amyloid beta 42.
Duering M et al.
Neurobiology of Aging, 2005
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
The mechanism of gamma-secretase activities through high molecular weight complex formation of presenilins is conserved in Drosophila melanogaster and mammals.
Takasugi N et al.
The Journal of Biological Chemistry, 2002
The first proline of PALP motif at the C terminus of presenilins is obligatory for stabilization, complex formation, and gamma-secretase activities of presenilins.
Tomita T et al.
The Journal of Biological Chemistry, 2001
C terminus of presenilin is required for overproduction of amyloidogenic Abeta42 through stabilization and endoproteolysis of presenilin.
Tomita T et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1999
Twenty-nine missense mutations linked with familial Alzheimer's disease alter the processing of presenilin 1.
Murayama O et al.
Progress in Neuro-psychopharmacology & Biological Psychiatry, 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
Interaction of presenilins with the filamin family of actin-binding proteins.
Zhang W et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1998
Amyloid precursor protein heat shock response in lymphoblastoid cell lines bearing presenilin-1 mutations.
Johnston JA et al.
Biochimica Et Biophysica Acta, 1997
A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease.
Forsell C et al.
Neuroscience Letters, 1997
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
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families.
Unknown Author
Nature Genetics, 1995
Familial Alzheimer's disease presenilin-1 mutants potentiate cell cycle arrest.
Janicki SM et al.
Neurobiology of Aging, 0
Protein misfolding in Alzheimer's and Parkinson's disease: genetics and molecular mechanisms.
Forloni G et al.
Neurobiology of Aging, 0