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
Amyloid precursor protein 𝛽CTF accumulates in synapses in sporadic and genetic forms of Alzheimer's disease.
Ferrer-Raventós P et al.
Neuropathology and Applied Neurobiology, 2023
Presenilin 1 Modulates Acetylcholinesterase Trafficking and Maturation.
Cortés-Gómez MÁ 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
Genetic landscape of early-onset dementia in Hungary.
Csaban D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
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
Presenilin mutations and their impact on neuronal differentiation in Alzheimer's disease.
Hernandez-Sapiens MA et al.
Neural Regeneration Research, 2022
Patient-Derived Fibroblasts With Presenilin-1 Mutations, That Model Aspects of Alzheimer's Disease Pathology, Constitute a Potential Object for Early Diagnosis.
Lopez-Toledo G et al.
Frontiers in Aging Neuroscience, 2022
Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.
Kalaria RN et al.
The American Journal of Pathology, 2021
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.
Bagyinszky E et al.
Brain Sciences, 2021
Dedifferentiation and neuronal repression define familial Alzheimer's disease.
Caldwell AB et al.
Science Advances, 2020
Assessing circular RNAs in Alzheimer's disease and frontotemporal lobar degeneration.
Cervera-Carles L et al.
Neurobiology of Aging, 2020
Using human induced pluripotent stem cells (hiPSCs) to investigate the mechanisms by which Apolipoprotein E (APOE) contributes to Alzheimer's disease (AD) risk.
Raman S et al.
Neurobiology of Disease, 2020
Pathogenic Aβ generation in familial Alzheimer's disease: novel mechanistic insights and therapeutic implications.
Trambauer J et al.
Current Opinion in Neurobiology, 2020
Extracellular interface between APP and Nicastrin regulates Aβ length and response to γ-secretase modulators.
Petit D et al.
The Embo Journal, 2019
Calcilytic NPS 2143 Reduces Amyloid Secretion and Increases sAβPPα Release from PSEN1 Mutant iPSC-Derived Neurons.
Lo Giudice M et al.
Journal of Alzheimer's Disease : Jad, 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
Neurons derived from sporadic Alzheimer's disease iPSCs reveal elevated TAU hyperphosphorylation, increased amyloid levels, and GSK3B activation.
Ochalek A et al.
Alzheimer's Research & Therapy, 2017
Two Novel Mutations in the First Transmembrane Domain of Presenilin1 Cause Young-Onset Alzheimer's Disease.
Liu CY et al.
Journal of Alzheimer's Disease : Jad, 2017
Establishment of PSEN1 mutant induced pluripotent stem cell (iPSC) line from an Alzheimer's disease (AD) female patient.
Nemes C et al.
Stem Cell Research, 2016
Early psychiatrics symptoms in familial Alzheimer's disease with presenilin 1 mutation (I83T).
Fray S et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2016
Qualitative changes in human γ-secretase underlie familial Alzheimer's disease.
Szaruga M et al.
The Journal of Experimental Medicine, 2015
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
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease.
Pera M et al.
Acta Neuropathologica, 2013
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
Clinical, biological, and imaging features of monogenic Alzheimer's Disease.
Pilotto A et al.
Biomed Research International, 2013
Correlating familial Alzheimer's disease gene mutations with clinical phenotype.
Ryan NS et al.
Biomarkers in Medicine, 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
Presenilin 1 interacts with acetylcholinesterase and alters its enzymatic activity and glycosylation.
Silveyra MX et al.
Molecular and Cellular Biology, 2008
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Two domains within the first putative transmembrane domain of presenilin 1 differentially influence presenilinase and gamma-secretase activity.
Brunkan AL et al.
Journal of Neurochemistry, 2005
Reduced KIAA0471 mRNA expression in Alzheimer's patients: a new candidate gene product linked to the disease?
de Yebra L et al.
Human Molecular Genetics, 2004
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
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
[Alzheimer's disease due to presenilin mutations].
Tabira T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2004
Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu).
Portet F et al.
Neurology, 2003
A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.
Queralt R et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2002
Neuropsychological study of familial Alzheimer's disease caused by mutation E280A in the presenilin 1 gene.
Arango Lasprilla JC et al.
American Journal of Alzheimer's Disease and Other Dementias, 0
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
Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications.
Colijn MA et al.
Alzheimer Disease and Associated Disorders, 0