Associated Papers
Spectrum of γ-Secretase dysfunction as a unifying predictor of ADAD age at onset across PSEN1, PSEN2 and APP causal genes.
Fernández SG et al.
Molecular Neurodegeneration, 2025
Comorbidities in early-onset sporadic versus presenilin-1 mutation-associated Alzheimer disease dementia: Evidence for dependency on Alzheimer disease neuropathological changes.
Sepulveda-Falla D et al.
Journal of Neuropathology and Experimental Neurology, 2025
Primary lateral sclerosis associated with PSEN1 Pro284Leu variant in a Colombian family: Clinical and neuropathological features.
Acosta-Uribe J et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
Apo and Aβ46-bound γ-secretase structures provide insights into amyloid-β processing by the APH-1B isoform.
Odorčić I et al.
Nature Communications, 2024
Comorbidities in Early-Onset Sporadic versus Presenilin-1 Mutation-Associated Alzheimer's Disease Dementia: Evidence for Dependency on Alzheimer's Disease Neuropathological Changes.
Sepulveda-Falla D et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
PSEN1 G417S mutation in a Chinese pedigree causing early-onset parkinsonism with cognitive impairment.
Jiang L et al.
Neurobiology of Aging, 2022
Presenilin Is Essential for ApoE Secretion, a Novel Role of Presenilin Involved in Alzheimer's Disease Pathogenesis.
Islam S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2022
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.
Bagyinszky E et al.
Brain Sciences, 2021
Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome.
Vázquez-Costa JF et al.
Frontiers in Molecular Neuroscience, 2021
Alzheimer's-Causing Mutations Shift Aβ Length by Destabilizing γ-Secretase-Aβn Interactions.
Szaruga M et al.
Cell, 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
Binding of longer Aβ to transmembrane domain 1 of presenilin 1 impacts on Aβ42 generation.
Ohki Y et al.
Molecular Neurodegeneration, 2014
Role of the Transforming-Growth-Factor-β1 Gene in Late-Onset Alzheimer's Disease: Implications for the Treatment.
Bosco P et al.
Current Genomics, 2013