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
Retinal and Optic Nerve Lesions Correspond to Amyloid in Autosomal Dominant Alzheimer's Disease.
Kashani AH et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Presenilin-1 C779T Mutation Presenting With Rapidly Progressive Dementia and Medial Temporal Lobe MRI Changes.
Toccaceli Blasi M et al.
Case Reports in Neurological Medicine, 2025
Young-Onset Alzheimer Dementia Due to a Novel Pathogenic Presenilin 1 Variant Initially Misdiagnosed as Autoimmune Encephalitis.
Ronchi NR et al.
Neurology(r) Neuroimmunology & Neuroinflammation, 2024
Alzheimer's disease pathophysiology in the Retina.
Gaire BP et al.
Progress in Retinal and Eye Research, 2024
New precision medicine avenues to the prevention of Alzheimer's disease from insights into the structure and function of γ-secretases.
De Strooper B et al.
The Embo Journal, 2024
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2023
Retinal pathological features and proteome signatures of Alzheimer's disease.
Koronyo Y et al.
Acta Neuropathologica, 2023
Aβ and tau prions feature in the neuropathogenesis of Down syndrome.
Condello C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.
Orozco-Barajas M et al.
Frontiers in Aging Neuroscience, 2022
Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.
Kim M et al.
International Journal of Molecular Sciences, 2021
Protein Predictive Modeling and Simulation of Mutations of Presenilin-1 Familial Alzheimer's Disease on the Orthosteric Site.
Soto-Ospina A et al.
Frontiers in Molecular Biosciences, 2021
Molecular features of premenopausal breast cancers in Latin American women: Pilot results from the PRECAMA study.
Olivier M et al.
Plos One, 2019
A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.
Yu AC et al.
Frontiers in Neuroscience, 2019
Impairment of memory generalization in preclinical autosomal dominant Alzheimer's disease mutation carriers.
Petok JR et al.
Neurobiology of Aging, 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
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
Lanoiselée HM et al.
Plos Medicine, 2017
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
Ryan NS et al.
The Lancet. Neurology, 2016
Evidence for Mitochondrial UPR Gene Activation in Familial and Sporadic Alzheimer's Disease.
Beck JS et al.
Current Alzheimer Research, 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
Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.
Kasuga K et al.
Journal of Human Genetics, 2015
Human secreted tau increases amyloid-beta production.
Bright J et al.
Neurobiology of Aging, 2015
Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.
Ringman JM et al.
Current Neurology and Neuroscience Reports, 2014
Disease-related mutations among Caribbean Hispanics with familial dementia.
Lee JH et al.
Molecular Genetics & Genomic Medicine, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
A paired RNAi and RabGAP overexpression screen identifies Rab11 as a regulator of β-amyloid production.
Udayar V et al.
Cell Reports, 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
The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.
Wallon D et al.
Journal of Alzheimer's Disease : Jad, 2012
Presenilin1/gamma-secretase promotes the EphB2-induced phosphorylation of ephrinB2 by regulating phosphoprotein associated with glycosphingolipid-enriched microdomains/Csk binding protein.
Georgakopoulos A et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011
Presenilin-1 mutation Alzheimer's disease: a genetic epilepsy syndrome?
Larner AJ
Epilepsy & Behavior : E&b, 2011
Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.
Guerreiro RJ et al.
Neurobiology of Aging, 2010
Correlating familial Alzheimer's disease gene mutations with clinical phenotype.
Ryan NS et al.
Biomarkers in Medicine, 2010
Wnt signaling in Alzheimer's disease: up or down, that is the question.
Boonen RA et al.
Ageing Research Reviews, 2009
Histopathological and molecular heterogeneity among individuals with dementia associated with Presenilin mutations.
Maarouf CL et al.
Molecular Neurodegeneration, 2008
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
Decreased Abeta secretion by cells expressing familial Alzheimer's disease-linked mutant presenilin 1.
Shimojo M et al.
Neuroscience Research, 2007
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum.
Dermaut B et al.
Trends in Genetics : Tig, 2005
Syntaxin 5 interacts with presenilin holoproteins, but not with their N- or C-terminal fragments, and affects beta-amyloid peptide production.
Suga K et al.
The Biochemical Journal, 2004
Mutant presenilin (A260V) affects Rab8 in PC12D cell.
Kametani F et al.
Neurochemistry International, 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
Early-onset Alzheimer's disease with presenilin-1 M139V mutation: clinical, neuropsychological and neuropathological study.
Larner AJ et al.
European Journal of Neurology, 2003
Tau load is associated with apolipoprotein E genotype and the amount of amyloid beta protein, Abeta40, in sporadic and familial Alzheimer's disease.
Thaker U et al.
Neuropathology and Applied Neurobiology, 2003
Early onset familial Alzheimer's disease: Mutation frequency in 31 families.
Janssen JC et al.
Neurology, 2003
Human wild presenilin-1 mimics the effect of the mutant presenilin-1 on the processing of Alzheimer's amyloid precursor protein in PC12D cells.
Kametani F et al.
Journal of the Neurological Sciences, 2001