Új vizsgálatok, publikációk, preprintek és pályázatok ezen a célponton, hónapról hónapra.
Publikáció
The influence of mutant genes APP and PSEN1 on hippocampal asymmetry in 5xFAD mice, transgenic model of Alzheimer disease.
2026. okt. 1.· Vavilovskii zhurnal genetiki i selektsii· PUBMED
Publikáció
PSEN1 Expression Identifies a Developmentally Distinct Favourable-Prognosis State in SHH α Medulloblastoma.
2026. okt. 1.· International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience· PUBMED
Publikáció
Social Determinants and Brain Health in PSEN1 E280A Carriers vs Non-Carriers: A Colombian Cohort.
2026. szept. 22.· American journal of Alzheimer's disease and other dementias· PUBMED
Publikáció
Correlations of PSEN1, PSEN2, and APP missense variants on the production of Aβ peptides against variant effect prediction.
2026. szept. 7.· Alzheimer's & dementia (New York, N. Y.)· PUBMED
Publikáció
Lecanemab in symptomatic PSEN1 p.Met233Val early-onset Alzheimer's disease: Neuroimaging safety, regional amyloid-PET dynamics, and longitudinal plasma biomarkers.
2026. aug. 30.· Alzheimer's & dementia (Amsterdam, Netherlands)· PUBMED
Preprint
Astrocyte-driven small vessel disease is an early, amyloid-independent feature of PSEN1 E280A familial Alzheimer's disease.
2026. júl. 22.· bioRxiv : the preprint server for biology· PUBMED
Publikáció
Patient-Derived PSEN1 Cerebral Organoids Revealed Parallel Development of Amyloid-β Accumulation and Network Dysfunction.
2026. júl. 20.· Cellular and molecular neurobiology· PUBMED
Publikáció
A Novel p. (Leu173del) Mutation in the Presenilin 1 (PSEN1) Gene in Two Sisters with Dominantly Inherited Alzheimer's Disease.
2026. júl. 18.· Internal medicine (Tokyo, Japan)· PUBMED
Publikáció
Baseline and placebo-related imaging, cerebrospinal fluid, plasma biomarker, and cognitive findings in unimpaired PSEN1 E280A mutation carriers and non-carriers in the Alzheimer's Prevention Initiative Autosomal Dominant Alzheimer's Disease Colombia Trial.
2026. júl. 17.· EBioMedicine· PUBMED
Vizsgálat
A Study of Donanemab, RG6289, or the Combination of Donanemab and RG6289 in Presenilin 1 (PSEN1) E280A Mutation Carriers for the Treatment of Autosomal-Dominant Alzheimer's Disease
2026. júl. 8.· PHASE2_PHASE3 · RECRUITING· CTGOV
Publikáció
Novel PSEN1 (Q223 L) mutation causes early-onset Alzheimer's disease: A case report.
2026. jún. 28.· World journal of radiology· PUBMED
Publikáció
Diagnostic challenges in early-onset Alzheimer's disease: Case report of a patient with PSEN1 p.Asn135Ser mutation.
2026. jún. 24.· Journal of Alzheimer's disease reports· PUBMED
Publikáció
A Humanized Knock-in Mouse Model of the PSEN1 V97L Mutation from a Major Chinese Alzheimer's Disease Pedigree Reveals Early Neuroinflammation.
2026. jún. 23.· Neuroscience bulletin· PUBMED
Publikáció
Teaching Video NeuroImage: Beyond Cognition: Amyotrophic Lateral Sclerosis-Like Disease in PSEN1 c.1292C>A (Jalisco Founder Effect) Variant.
2026. jún. 19.· Neurology· PUBMED
Publikáció
Hypertrophic Cardiomyopathy and Sudden Cardiac Arrest Associated with a PSEN1 Variant: A Case Report.
2026. jún. 4.· Internal medicine (Tokyo, Japan)· PUBMED
Publikáció
Regulatory Variation at TERT and TERC Shows Limited Association with Early-Onset Alzheimer's Disease in Carriers of the Mexican Founder Mutation PSEN1 A431E.
2026. ápr. 30.· Medical sciences (Basel, Switzerland)· PUBMED
Preprint
PSEN1 mutant marmoset fibroblasts mimic multi-omic signatures of Alzheimer's disease.
2026. ápr. 28.· bioRxiv : the preprint server for biology· PUBMED
Publikáció
[Early-onset Alzheimer's disease with PSEN1 G206D mutation presenting with amnesia at an onset age of 29 years old].
2026. ápr. 11.· Rinsho shinkeigaku = Clinical neurology· PUBMED
Publikáció
Retraction notice to "Generation of a gene-corrected human isogenic iPSC line from an Alzheimer's disease iPSC line carrying the PSEN1 H163R mutation" [Stem Cell Res. 79 (2024) 103495].
2026. márc. 19.· Stem cell research· PUBMED
Publikáció
Differential effects of PSEN1 mutations (p.P117L with ataxia and p.P264L without ataxia) in early-onset Alzheimer's disease.
2026. márc. 16.· Journal of Alzheimer's disease : JAD· PUBMED
Publikáció
Generation of a human induced pluripotent stem cell line (FLENIi004-A) from an Autosomal-Dominant Alzheimer's disease PSEN1 p.M146L patient.
2026. márc. 6.· Stem cell research· PUBMED
Publikáció
Heterozygous TREM2 (p.W44X) and PSEN1 (p.A431T) mutations in two Peruvian families with familial Alzheimer's disease: expanding the genetic landscape in underrepresented populations.
2026. febr. 2.· Frontiers in neuroscience· PUBMED
Publikáció
Novel prognostic signature unveils PSEN1 contributes to depression-induced lung adenocarcinoma progression.
2026. jan. 29.· Frontiers in immunology· PUBMED
Publikáció
A novel PSEN1 (p.Gln223Leu) variant associated with spastic paraparesis and early-onset Alzheimer's disease.
2026. jan. 28.· Journal of Alzheimer's disease reports· PUBMED
Publikáció
The preliminary study on the effect of PSEN1 on the proliferation and invasion of breast cancer cells.
2026. jan. 21.· Translational breast cancer research : a journal focusing on translational research in breast cancer· PUBMED
Publikáció
Interpretable machine-learning prediction of PSEN1 missense variant pathogenicity based on multi-omics enrichment in six core Alzheimer's disease genes.
2026. jan. 8.· Alzheimer's research & therapy· PUBMED
Publikáció
Papaverine-Derived Dual-Active Modulator Ameliorates Alzheimer's Disease Pathology in Aged APP/PSEN1 Transgenic Mice.
2025. dec. 31.· Journal of medicinal chemistry· PUBMED
Publikáció
Efficacy of lecanemab in early-onset Alzheimer's disease with a novel PSEN1 (p.Met233Thr) mutation: a case report.
2025. dec. 20.· Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology· PUBMED
Publikáció
Clinical and functional evidence supporting the pathogenicity of the novel PSEN1 p.R358P variant in early-onset Alzheimer's disease.
2025. nov. 6.· Journal of Alzheimer's disease : JAD· PUBMED
Publikáció
Hyperkinesia and early-onset dementia in a female with co-occurring PSEN1 and HTT mutations: A case report.
2025. nov. 3.· Journal of Alzheimer's disease reports· PUBMED