Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.M146V
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PSEN1

NM_000021.4:p.M146V

Associated Papers

Loss of arginase 2 disrupts striatum-specific polyamine homeostasis.

Nalepa M et al.

The Febs Journal, 2026

HOPS disruption impairs APP trafficking and processing, promoting exosomal secretion of APP-CTFs.

Draper D et al.

Neurobiology of Disease, 2026

Autophagy Activators Normalize Aberrant Tau Proteostasis and Rescue Synapses in Human Familial Alzheimer's Disease iPSC-Derived Cortical Organoids.

Labra SR et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026

Early functional changes and plasma GFAP in Swedish families with Autosomal Dominant Alzheimer's disease mutations.

Luckett ES et al.

Translational Psychiatry, 2026

Dyrk1a inhibition with the Novel Compound DYR533: A Cross-Disease Therapeutic Strategy Targeting Amyloidosis, Tau Pathogenesis, and Neuroinflammation.

Bartholomew SK et al.

Biorxiv : the Preprint Server for Biology, 2026

Proteins Associated with Cognition in Amyloid-beta Positive Elders Based on Cerebrospinal Fluid Proteomics.

Liu M et al.

Molecular Neurobiology, 2025

Pridopidine, a Potent and Selective Therapeutic Sigma-1 Receptor (S1R) Agonist for Treating Neurodegenerative Diseases.

Gershoni Emek N et al.

Pharmaceuticals (basel, Switzerland), 2025

Fshr gene depletion prevents recognition memory loss, fat accrual and bone loss in Alzheimer's mice.

Cheliadinova U et al.

Molecular Psychiatry, 2025

Pathological calcium influx through amyloid beta pores disrupts synaptic function.

Adeoye T et al.

Cell Calcium, 2025

Upregulation of MAM by C99 disrupts ACSL4 activity and phospholipid homeostasis in Alzheimer's disease models.

Montesinos J et al.

Biorxiv : the Preprint Server for Biology, 2025

A decade progress in the phenotyping of AppNL-G-F knock-in mouse model of Alzheimer's disease.

Manabe T et al.

Neuroscience Research, 2025

TSPO contributes to neuropathology and cognitive deficits in Alzheimer's disease.

Ceyzériat K et al.

Journal of Neuroinflammation, 2025

41152868 (PubMed )
Supplement: 12974_2025_3583_MOESM1_ESM.pdf

INPP5D/SHIP1 is a dual regulator of endo-lysosome function and selective phagocytosis in human microglia.

Terzioglu G et al.

Biorxiv : the Preprint Server for Biology, 2025

Genetic and proteomic analysis identifies BAG3 as an amyloid-responsive regulator of neuronal proteostasis.

Augur ZM et al.

Acta Neuropathologica, 2025

Tau-Targeted Therapeutic Strategies: Mechanistic Targets, Clinical Pipelines, and Analysis of Failures.

Shen X et al.

Cells, 2025

Genetic ablation of neuronal mitochondrial calcium uptake impedes Alzheimer's disease progression.

Jadiya P et al.

Biorxiv : the Preprint Server for Biology, 2025

Abnormal calcium activity and CREB phosphorylation are associated with motor memory impairment in presenilin-1 mutant knock-in mice.

Lin Y et al.

Cell Calcium, 2025

THICAPA modulates amyloid precursor protein processing and alleviates oxidative stress in fibroblasts derived from patients with Familial Alzheimer's disease.

Thangeswaran D et al.

Molecular Biology Reports, 2025

δ-catenin haploinsufficiency is sufficient to alter behaviors and glutamatergic synapses in mice.

Hinchliffe ES et al.

Biorxiv : the Preprint Server for Biology, 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

40570367 (PubMed )
Supplement: NIHMS2099510-supplement-6.xlsx › VSQR_THP-1

Autophagy activators normalize aberrant Tau proteostasis and rescue synapses in human familial Alzheimer's disease iPSC-derived cortical organoids.

Labra SR et al.

Biorxiv : the Preprint Server for Biology, 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

39903689 (PubMed )
Supplement: awaf038_supplementary_data.zip › 2-Supplemental_Table1_AR_20250121_JLliF.pdf

Beyond the brain: early autonomic dysfunction in Alzheimer's disease.

Nanclares C et al.

Acta Neuropathologica Communications, 2025

Acute targeting of N-terminal tau protein has long-lasting beneficial effects in Tg2576 APP/Aβ mouse model by reducing cognitive impairment, cerebral Aβ-amyloidosis, synaptic remodeling and microgliosis later in life.

Latina V et al.

Acta Neuropathologica Communications, 2025

Upregulation of ISG15 induced by MAPT/tau accumulation represses autophagic flux by inhibiting HDAC6 activity: a vicious cycle in Alzheimer disease.

Liu Q et al.

Autophagy, 2025

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

Amyloid precursor protein and presenilin-1 knock-in immunodeficient mice exhibit intraneuronal Aβ pathology, microgliosis, and extensive neuronal loss.

Yeapuri P et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025

Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.

Poniah P et al.

Genes, 2025

Identification and characterization of variants in PSEN1, PSEN2, and APP genes in Chinese patients with early-onset Alzheimer's disease.

Nan H et al.

Alzheimer's Research & Therapy, 2025

γ-Secretase modulator resistance of an aggressive Alzheimer-causing presenilin mutant can be overcome in the heterozygous patient state by a set of advanced compounds.

Trambauer J et al.

Alzheimer's Research & Therapy, 2025

BOK-engaged mitophagy alleviates neuropathology in Alzheimer's disease.

Yang Y et al.

Brain : a Journal of Neurology, 2025

Troriluzole rescues glutamatergic deficits, amyloid and tau pathology, and synaptic and memory impairments in 3xTg-AD mice.

Pfitzer J et al.

Journal of Neurochemistry, 2025

Case of early onset Alzheimer's disease associated with a novel PSEN1 variant identified in Colombia.

Zapata-Restrepo LM et al.

Npj Dementia, 2025

Organelle abnormalities in Alzheimer's disease.

Gao J et al.

Organelle (tucson, Ariz.), 2025

Arc mediates intercellular tau transmission via extracellular vesicles.

Tyagi M et al.

Biorxiv : the Preprint Server for Biology, 2024

Advances in the cell biology of the trafficking and processing of amyloid precursor protein: impact of familial Alzheimer's disease mutations.

Wang J et al.

The Biochemical Journal, 2024

Thy1-ApoE4/C/EBPβ double transgenic mice act as a sporadic model with Alzheimer's disease.

Qian Z et al.

Molecular Psychiatry, 2024

Expansion of highly interferon-responsive T cells in early-onset Alzheimer's disease.

Sirkis DW et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

Oligodendrocyte Dysfunction in Tauopathy: A Less Explored Area in Tau-Mediated Neurodegeneration.

Majumder M et al.

Cells, 2024

Rodent Models of Alzheimer's Disease: Past Misconceptions and Future Prospects.

Collins HM et al.

International Journal of Molecular Sciences, 2024

The amyloid precursor protein and its derived fragments concomitantly contribute to the alterations of mitochondrial transport machinery in Alzheimer's disease.

Vaillant-Beuchot L et al.

Cell Death & Disease, 2024

Telomere length and micronuclei trajectories in APP/PS1 mouse model of Alzheimer's disease: Correlating with cognitive impairment and brain amyloidosis in a sexually dimorphic manner.

Guo X et al.

Aging Cell, 2024

Innate immune activation in neurodegenerative diseases.

Castro-Gomez S et al.

Immunity, 2024

Swedish Alzheimer's disease variant perturbs activity of retrograde molecular motors and causes widespread derangement of axonal transport pathways.

Feole M et al.

The Journal of Biological Chemistry, 2024

38447793 (PubMed )
Supplement: mmc24.docx

Transport mechanism of presynaptic high-affinity choline uptake by CHT1.

Qiu Y et al.

Nature Structural & Molecular Biology, 2024

Neuropathological changes in the TASTPM mouse model of Alzheimer's disease and their relation to hyperexcitability and cortical spreading depolarization.

Gimeno-Ferrer F et al.

Scientific Reports, 2024

Cognitive impairment in Alzheimer's disease FAD4T mouse model: Synaptic loss facilitated by activated microglia via C1qA.

Zhang C et al.

Life Sciences, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."