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
Rare A360T Mutation Alters GSK3β(Ser9) Binding in the Cytosolic Loop of Presenilin 1, Influencing β-Catenin Nuclear Localization and Pro-Death Gene Expression in Alzheimer's Disease Case.
Wężyk M et al.
International Journal of Molecular Sciences, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Pathogenic Aβ generation in familial Alzheimer's disease: novel mechanistic insights and therapeutic implications.
Trambauer J et al.
Current Opinion in Neurobiology, 2020
Overactive BRCA1 Affects Presenilin 1 in Induced Pluripotent Stem Cell-Derived Neurons in Alzheimer's Disease.
Wezyk M et al.
Journal of Alzheimer's Disease : Jad, 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
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds.
Kretner B et al.
The Journal of Biological Chemistry, 2011
Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.
Larner AJ et al.
Journal of Alzheimer's Disease : Jad, 2009
CSF studies facilitate DNA diagnosis in familial Alzheimer's disease due to a presenilin-1 mutation.
de Bot ST et al.
Journal of Alzheimer's Disease : Jad, 2009
Generation of Abeta38 and Abeta42 is independently and differentially affected by familial Alzheimer disease-associated presenilin mutations and gamma-secretase modulation.
Page RM et al.
The Journal of Biological Chemistry, 2008
The genetics of very early onset Alzheimer disease.
Filley CM et al.
Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology, 2007
A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis.
Shrimpton AE et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2007
Reply to Dr Raux et al.: Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update (J Med Genet 2005;42:793-5).
Larner AJ et al.
Journal of Medical Genetics, 2006
Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment.
Zekanowski C et al.
Experimental Neurology, 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
[Alzheimer's disease due to presenilin mutations].
Tabira T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2004
Genetic study of familial cases of Alzheimer's disease.
Kowalska A et al.
Acta Biochimica Polonica, 2004
Presenilin 1 mutations in Polish families with early-onset Alzheimer's disease.
Kowalska A et al.
Folia Neuropathologica, 2004
Molecular genetics of Alzheimer's disease: presenilin 1 gene analysis in a cohort of patients from the Poznań region.
Kowalska A et al.
Journal of Applied Genetics, 2003
Clinical picture of a patient with a novel PSEN1 mutation (L424V).
Robles A et al.
American Journal of Alzheimer's Disease and Other Dementias, 0