Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.E693Q
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APP

NM_000484.4:p.E693Q

Associated Papers

Hereditary Haemorrhagic Cerebrovascular Disease: Implications for Clinical Management.

Hou W et al.

Annals of Neurosciences, 2026

Plasma levels of an N-terminal tau fragment predict Alzheimer's and neurodegenerative disease biomarkers in autosomal dominant Alzheimer's disease.

Schultz SA et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2026

Aquaporin-4 and caveolin-1 as mediators of fibrinogen-driven cerebrovascular pathology in cerebral amyloid angiopathy.

Singh V et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2026

Lysosomal protease-mediated APP degradation is pH-dependent, mutation-sensitive, and facilitates tau proteolysis.

Ackley C et al.

Molecular Neurodegeneration Advances, 2026

Meningeal vascular Aβ deposition associates with cerebral hypoperfusion and compensatory collateral remodeling.

Kaloss AM et al.

Alzheimer's Research & Therapy, 2025

Protein aggregation in neurodegenerative diseases.

Wang J et al.

Chinese Medical Journal, 2025

Cryo-EM studies of amyloid-β fibrils from human and murine brains carrying the Uppsala APP mutation (Δ690-695).

Zielinski M et al.

Acta Neuropathologica Communications, 2025

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 2025

Aquaporin-4 and Caveolin-1 as Mediators of Fibrinogen-Driven Cerebrovascular Pathology in Cerebral Amyloid Angiopathy.

Singh V 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

Lysosomal Protease-Mediated APP Degradation is pH-Dependent, Mutation-Sensitive, and Facilitates Tau Proteolysis.

Ackley C et al.

Research Square, 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 › 3-Supplemental_Table2_AR_20250121_Jlli_B_Alz.pdf

Tg-SwDI transgenic mice: A suitable model for Alzheimer's disease and cerebral amyloid angiopathy basic research and preclinical studies.

Rodriguez-Lopez A et al.

Experimental Neurology, 2025

Mitochondrial dynamics and bioenergetics in Alzheimer's induced pluripotent stem cell-derived neurons.

MacMullen C et al.

Brain : a Journal of Neurology, 2025

Cerebral proteome adaptations to amyloid angiopathy are prevented by carbonic anhydrase inhibitors.

Carlsen J et al.

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

Endogenously generated Dutch-type Aβ nonfibrillar aggregates dysregulate presynaptic neurotransmission in the absence of detectable inflammation.

Castranio EL et al.

Biorxiv : the Preprint Server for Biology, 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

Genetics of intracerebral hemorrhage.

Kimball TN et al.

Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 2025

Reduction of orexin-expressing neurons and a unique sleep phenotype in the Tg-SwDI mouse model of Alzheimer's disease.

Wu Y et al.

Frontiers in Aging Neuroscience, 2025

Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.

Khani M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Longitudinal associations between exercise and biomarkers in autosomal dominant Alzheimer's disease.

Sewell KR et al.

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

Cerebrospinal fluid shotgun proteomics identifies distinct proteomic patterns in cerebral amyloid angiopathy rodent models and human patients.

Vervuurt M et al.

Acta Neuropathologica Communications, 2024

Molecular neuroimaging in dominantly inherited versus sporadic early-onset Alzheimer's disease.

Iaccarino L et al.

Brain Communications, 2024

Cerebral Proteomic Changes in the rTg-D Rat Model of Cerebral Amyloid Angiopathy Type-2 With Cortical Microhemorrhages and Cognitive Impairments.

Schrader JM et al.

Neuroscience Insights, 2024

T1 and FLAIR signal intensities are related to tau pathology in dominantly inherited Alzheimer disease.

Rahmani F et al.

Human Brain Mapping, 2023

Clinical considerations in early-onset cerebral amyloid angiopathy.

Banerjee G et al.

Brain : a Journal of Neurology, 2023

Interaction of Proteins Involved in Neuronal Proteinopathies.

Kulichikhin KY et al.

Life (basel, Switzerland), 2023

Genetic repair of a human induced pluripotent cell line from patient with Dutch-type cerebral amyloid angiopathy.

Nahon DM et al.

Stem Cell Research, 2023

Positron emission tomography and magnetic resonance imaging methods and datasets within the Dominantly Inherited Alzheimer Network (DIAN).

McKay NS et al.

Nature Neuroscience, 2023

Plasma glial fibrillary acidic protein in autosomal dominant Alzheimer's disease: Associations with Aβ-PET, neurodegeneration, and cognition.

Chatterjee P et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2023

Plasma amyloid beta 42 is a biomarker for patients with hereditary, but not sporadic, cerebral amyloid angiopathy.

de Kort AM et al.

Alzheimer's Research & Therapy, 2023

Cryo-EM structures of amyloid-β filaments with the Arctic mutation (E22G) from human and mouse brains.

Yang Y et al.

Acta Neuropathologica, 2023

Amyloid precursor protein 𝛽CTF accumulates in synapses in sporadic and genetic forms of Alzheimer's disease.

Ferrer-Raventós P et al.

Neuropathology and Applied Neurobiology, 2023

Decreased ratios of matrix metalloproteinases to tissue-type inhibitors in cerebrospinal fluid in sporadic and hereditary cerebral amyloid angiopathy.

Vervuurt M et al.

Alzheimer's Research & Therapy, 2023

Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study.

Boerwinkle AH et al.

The Lancet. Neurology, 2023

An Alternative View of Familial Alzheimer's Disease Genetics.

Lardelli M

Journal of Alzheimer's Disease : Jad, 2023

Hippocampal glial inflammatory markers are differentially altered in a novel mouse model of perimenopausal cerebral amyloid angiopathy.

Platholi J et al.

Frontiers in Aging Neuroscience, 2023

Genetics of migraine: Delineation of contemporary understanding of the genetic underpinning of migraine.

de Boer I et al.

Handbook of Clinical Neurology, 2023

The emerging role of the HTRA1 protease in brain microvascular disease.

Haffner C

Frontiers in Dementia, 2023

Rare Amyloid Precursor Protein Point Mutations Recapitulate Worldwide Migration and Admixture in Healthy Individuals: Implications for the Study of Neurodegeneration.

Abondio P et al.

International Journal of Molecular Sciences, 2022

36555510 (PubMed )
Supplement: ijms-23-15871-s001.zip › ijms-2049902-supplementary.xlsx › S1

Progressive White Matter Injury in Preclinical Dutch Cerebral Amyloid Angiopathy.

Shirzadi Z et al.

Annals of Neurology, 2022

Elevated expression of urokinase plasminogen activator in rodent models and patients with cerebral amyloid angiopathy.

Vervuurt M et al.

Neuropathology and Applied Neurobiology, 2022

Cerebellar hemorrhages in patients with Dutch-type hereditary cerebral amyloid angiopathy.

Voigt S et al.

International Journal of Stroke : Official Journal of the International Stroke Society, 2022

Modeling neurodegenerative disorders in zebrafish.

Bashirzade AA et al.

Neuroscience and Biobehavioral Reviews, 2022

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