The UNC13A cryptic exon associates with cognitive impairment in Alzheimer's disease.

doi:10.1186/s13195-026-02157-7

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The UNC13A cryptic exon associates with cognitive impairment in Alzheimer's disease.

Alzheimer's research & therapy - 14 Aug 2026

Reeves Madison M, Aviles Carpintero Sara, Zanovello Matteo, Jansen-West Karen, Yue Mei, Calliari Anna, Song Yuping, Dunmore Judith, Maroto Cidfuentes Candela, Ball Sophie, Kachergus Jennifer M, Killeen Heather E, Rawlinson Bailey, Engelberg-Cook Erica, DeTure Michael, Day Gregory S, Graff-Radford Neill R, Boeve Bradley F, Knopman David S, Petersen Ronald C, Murray Melissa, Thompson Aubrey E, Dickson Dennis W, Fratta Pietro, Petrucelli Leonard, Josephs Keith A, Prudencio Mercedes

Abstract excerpt

BACKGROUND: TAR DNA-binding protein of 43 kDa (TDP-43) is often found in the brains of patients with Alzheimer's disease (AD), where it co-occurs with amyloid β plaques and tau neurofibrillary tangles, and associates with accelerated cognitive decline and brain atrophy. TDP-43's function of repressing the inclusion of cryptic exons (CEs) during RNA splicing is compromised in AD. A single-nucleotide polymorphism...

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Identifiers

PMID: 42596024
DOI: 10.1186/s13195-026-02157-7
PMCID: PMC13474897

Genes

UNC13A
STMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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The UNC13A cryptic exon associates with cognitive impairment in Alzheimer's disease.PMID 42596024Read ↗

Cracking the cryptic code in amyotrophic lateral sclerosis and frontotemporal dementia: Towards therapeutic targets and biomarkersSemantic proximity Read ↗

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TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13ASemantic proximity Read ↗

Common ALS/FTD risk variants in <i>UNC13A</i> exacerbate its cryptic splicing and loss upon TDP-43 mislocalizationSemantic proximity Read ↗

TDP-43 and other hnRNPs regulate cryptic exon inclusion of a key ALS/FTD risk gene, UNC13ASemantic proximity Read ↗

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