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Article

The CD33 short isoform is a gain-of-function variant that enhances Aβ1-42 phagocytosis in microglia.

Molecular neurodegeneration - 25 Mar 2021

Bhattacherjee Abhishek, Jung Jaesoo, Zia Sameera, Ho Madelene, Eskandari-Sedighi Ghazaleh, St Laurent Chris D, McCord Kelli A, Bains Arjun, Sidhu Gaurav, Sarkar Susmita, Plemel Jason R, Macauley Matthew S

Abstract excerpt

BACKGROUND: CD33 is genetically linked to Alzheimer's disease (AD) susceptibility through differential expression of isoforms in microglia. The role of the human CD33 short isoform (hCD33m), preferentially encoded by an AD-protective CD33 allele (rs12459419T), is unknown. Here, we test whether hCD33m represents a loss-of-function or gain-of-function variant. METHODS: We have developed two models to test the role...

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Share to Gain of Function Mutation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33766097
DOI: 10.1186/s13024-021-00443-6
PMCID: PMC7992807

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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