Associated Papers
Novel Association of the Presenilin-1 (Leu282Arg) Mutation with Isolated Spastic Paraparesis: Case Presentation and Review of Current Evidence.
De la Sen-Domínguez M et al.
Journal of Clinical Medicine, 2025
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
Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2.
Marsh JA et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2025
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
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
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
Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.
Kim M et al.
International Journal of Molecular Sciences, 2021
Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease.
Chelban V et al.
Alzheimer's & Dementia (amsterdam, Netherlands), 2021
The R278I Mutation of PSEN1 in the Familial Alzheimer Disease.
Kim JH et al.
Dementia and Neurocognitive Disorders, 2020
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
TDP-43 proteinopathies: pathological identification of brain regions differentiating clinical phenotypes.
Tan RH et al.
Brain : a Journal of Neurology, 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
A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease.
Luedecke D et al.
Neuroscience Letters, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Biological function of Presenilin and its role in AD pathogenesis.
Zhang S et al.
Translational Neurodegeneration, 2013
Mechanism of intramembrane cleavage of alcadeins by γ-secretase.
Piao Y et al.
Plos One, 2013
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
Presenilins function in ER calcium leak and Alzheimer's disease pathogenesis.
Supnet C et al.
Cell Calcium, 2011
Presenilins as endoplasmic reticulum calcium leak channels and Alzheimer's disease pathogenesis.
Supnet C et al.
Science China. Life Sciences, 2011
Potent amyloidogenicity and pathogenicity of Aβ43.
Saito T et al.
Nature Neuroscience, 2011
gamma-secretases: from cell biology to therapeutic strategies.
Bergmans BA et al.
The Lancet. Neurology, 2010
Correlating familial Alzheimer's disease gene mutations with clinical phenotype.
Ryan NS et al.
Biomarkers in Medicine, 2010
Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.
Larner AJ et al.
Journal of Alzheimer's Disease : Jad, 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
Variable phenotype of Alzheimer's disease with spastic paraparesis.
Karlstrom H et al.
Journal of Neurochemistry, 2008
A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis.
Raman A et al.
Journal of the Neurological Sciences, 2007
The molecular link between beta- and gamma-secretase activity on the amyloid beta precursor protein.
Tabaton M et al.
Cellular and Molecular Life Sciences : Cmls, 2007
A novel presenilin 1 deletion (p.L166del) associated with early onset familial Alzheimer's disease.
Knight WD et al.
European Journal of Neurology, 2007
Impairments in fast axonal transport and motor neuron deficits in transgenic mice expressing familial Alzheimer's disease-linked mutant presenilin 1.
Lazarov O et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2007
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Random mutagenesis of presenilin-1 identifies novel mutants exclusively generating long amyloid beta-peptides.
Nakaya Y et al.
The Journal of Biological Chemistry, 2005
Hemorrhage is uncommon in new Alzheimer family with Flemish amyloid precursor protein mutation.
Brooks WS et al.
Neurology, 2004
A presenilin 1 R278I mutation presenting with language impairment.
Godbolt AK et al.
Neurology, 2004
Pathological and clinical heterogeneity of presenilin 1 gene mutations.
Menéndez M
Journal of Alzheimer's Disease : Jad, 2004
A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.
Hattori S et al.
Neuroscience Letters, 2004
[Alzheimer's disease due to presenilin mutations].
Tabira T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2004
[Familial forms of Alzheimer's disease].
Maréchal L et al.
Presse Medicale (paris, France : 1983), 2003
Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions.
Brooks WS et al.
Brain : a Journal of Neurology, 2003
Pure spastic paraparesis associated with a novel presenilin 1 R278K mutation.
Assini A et al.
Neurology, 2003
Alzheimer's disease with spastic paresis and cotton wool type plaques.
Tabira T et al.
Journal of Neuroscience Research, 2002
Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities.
O'Riordan S et al.
Neurology, 2002
Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease.
Jacquemont ML et al.
Journal of Medical Genetics, 2002
Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population.
Taddei K et al.
Molecular Psychiatry, 2002
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.
Athan ES et al.
Jama, 2001
Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile).
Sodeyama N et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2001
[Angelman syndrome--from the phenotype of a developmental disorder to the genes].
Holopainen IE et al.
Duodecim; Laaketieteellinen Aikakauskirja, 2001