A proposed reverse transcription mechanism for (CAG)n and similar expandable repeats that cause neurological and other diseases

Autor: Andrew Franklin, Edward J. Steele, Robyn A. Lindley

Publikováno v: Heliyon, Vol 6, Iss 2, Pp e03258- (2020)

The mechanism of (CAG)n repeat generation, and related expandable repeat diseases in non-dividing cells, is currently understood in terms of a DNA template-based DNA repair synthesis process involving hairpin stabilized slippage, local error-prone re

Externí odkaz: https://doaj.org/article/d2f6f24c3a8d44739e8fcb2e63f40a89

'Spazio Huntington': Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats

Autor: Federica Graziola, Sabrina Maffi, Melissa Grasso, Giacomo Garone, Simone Migliore, Eugenia Scaricamazza, Consuelo Ceccarelli, Melissa Casella, Ludovica Busi, Barbara D’Alessio, Alessandro De Luca, Giovanna Stefania Colafati, Umberto Sabatini, Alessandro Capuano, Ferdinando Squitieri

Publikováno v: Journal of Personalized Medicine, Vol 12, Iss 120, p 120 (2022)
Journal of Personalized Medicine; Volume 12; Issue 1; Pages: 120
Journal of Personalized Medicine

The “Spazio Huntington—A Place for Children” program was launched in 2019. The aim was to contact at risk kids within Huntington disease (HD) families, to provide counseling to their parents and to start a prospective follow-up of kids suspicio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f41ed09a4c21813777194499d9073950
https://www.mdpi.com/2075-4426/12/1/120

Modelos de toxicidad inducidos por microsatélites CAG y caracterización de dianas terapéuticas en C. elegans

Autor: Ana Pilar, Gómez Escribano

Publikováno v: RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
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[ES] El equilibrio de la homeostasis de proteínas es esencial para asegurar la funcionalidad celular. La expresión de proteínas propensas a plegarse mal induce la formación de agregados tóxicos que alteran el correcto funcionamiento de estos sis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e46a3c5fe94a63ebf0a0b6c1f21a372c
https://doi.org/10.4995/thesis/10251/166783

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Ancestral origins of the Machado-Joseph disease mutation

Publikováno v: American Journal of Human Genetics. 68(2):523-528

Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder originally described in families of Portuguese-Azorean ancestry. The cloning of the MJD1 gene allowed identification of the disease in many other populations, and MJD is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dris___00893::ee3d7cad1d5aa77724b519867169eee7
https://hdl.handle.net/11370/fd585447-5abb-42b9-bc95-76543dc9d791