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

Madison M. Reeves, Sara Aviles Carpintero, Matteo Zanovello, Karen Jansen-West, Mei Yue, Anna Calliari, Yuping Song, Judith Dunmore, Candela Maroto Cidfuentes, Sophie Ball, Jennifer M. Kachergus, Heather E. Killeen, Bailey Rawlinson, Erica Engelberg-Cook, Michael DeTure, Gregory S. Day, Neill R. Gra · 2026

Read The UNC13A cryptic exon associates with cognitive impairment in Alzheimer’s disease by Madison M. Reeves, Sara Aviles Carpintero, Matteo Zanovello, Karen Jansen-West, Mei Yue, Anna Calliari, Yuping Song, Judith Dunmore, Candela Maroto Cidfuentes, Sophie Ball, Jennifer M. Kachergus, Heather E. Killeen, Bailey Rawlinson, Erica Engelberg-Cook, Michael DeTure, Gregory S. Day, Neill R. Gra (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13474897.txt.

Description

Madison M Reeves and co-authors link a hidden RNA segment in the UNC13A gene to worse thinking in Alzheimer's disease, published in 2026. A protein called TDP-43 is often found in the brains of people with this disease. When that protein fails, hidden segments called cryptic exons can slip into RNA where they do not belong.

The team checked a gene variant inside that hidden segment in a large group of cases, plus brain tissue with measures of thinking. They also used a very large UK health data set. The question was whether the variant and the faulty splicing track with TDP-43 harm, survival, and loss of thinking skill. The work ties a known risk in other brain diseases to Alzheimer's disease as well.

Catalog record

CREATORMadison M. Reeves, Sara Aviles Carpintero, Matteo Zanovello, Karen Jansen-West, Mei Yue, Anna Calliari, Yuping Song, Judith Dunmore, Candela Maroto Cidfuentes, Sophie Ball, Jennifer M. Kachergus, Heather E. Killeen, Bailey Rawlinson, Erica Engelberg-Cook, Michael DeTure, Gregory S. Day, Neill R. Gra
YEAR2026
COLLECTIONPAPERS
FORMATTXT
FILE SIZE41 KB
VERSION1.0
LICENSECC BY 4.0
RIGHTSCC BY
SOURCEEurope PMC

Source: https://europepmc.org/articles/PMC13474897

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