What is the functional mechanism by which BIN1 P318L missense mutation increases LOAD risk?

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The novel P318L mutation shows significant association with LOAD risk, but the abstract provides no mechanistic explanation for how this amino acid change affects BIN1 protein function. Understanding this mechanism is crucial for therapeutic targeting. Gap type: unexplained_observation Source paper: Genetic variation in BIN1 gene and Alzheimer's disease risk in Han Chinese individuals. (2014, Neurobiology of aging, PMID:24582639)

Priority: 0.82 Domain: neurodegeneration Hypotheses: 0

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Landscape Summary: What is the functional mechanism by which BIN1 P318L missense mutation increases LOAD risk? is a 0.82 priority gap in neurodegeneration. It has 0 linked hypotheses with average composite score 0.000. Status: open.

Key Unanswered Questions

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What biomarkers predict response to TREM2-targeted interventions?

Key Researchers

Colonna, Sevlever, et al. (TREM2 biology)

Clinical Trials

What is the functional mechanism by which BIN1 P318L missense mutation increases LOAD risk? — INVOKE-2 (completed)

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associated with (15)

ALZHEIMER'S DISEASE→BIN1APOE→BIN1BIN1→Alzheimer's DiseaseBIN1→Alzheimer'S DiseaseBIN1→Alzheimer's disease

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AMYLOID→BIN1BIN1→tau tanglesBIN1→Endolysosomal DysfunctionBIN1→tau pathologyBIN1→Tau TanglesBIN1→Amyloid-Beta PlaquesBIN1→TAUBIN1→PtauBIN1→EndocytosisBIN1→CR1

data in (7)

BIN1→ad_genetic_risk_loci:BIN1ad_genetic_risk_loci:BIN1→BIN1benchmark_ot_ad_answer_key:BIN1→BIN1BIN1→benchmark_ot_ad_answer_key:BIN1ds-db4a006ea647→BIN1

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ds-83b31ef18d49→BIN1ds-f50762b67605→BIN1

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BIN1→cytoskeletal dynamicsBIN1→Membrane DynamicsBIN1→autophagyBIN1→synaptic function

risk factor for (2)

BIN1→Late-Onset Alzheimer's DiseaseBIN1→Late-Onset Alzheimer'S Disease

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What is the functional mechanism by which BIN1 P318L missense mutation increases LOAD risk?

Key Unanswered Questions

Key Researchers

Clinical Trials

Hypothesis Score Distribution

associated with (15)

data in (7)

downregulates (2)

encodes (1)

inhibits (2)

interacts with (1)

involved in (2)

mediates (3)

modulates (3)

provides data for (3)

regulates (9)

risk factor for (2)