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Loss of MBNL1-mediated retrograde BDNF signaling in the myotonic dystrophy brain

Reduced brain volume including atrophy in grey and white matter is commonly seen in myotonic dystrophy type 1 (DM1). DM1 is caused by an expansion of CTG trinucleotide repeats in the 3’ untranslated region (UTR) of the Dystrophia Myotonica Protein Kinase (DMPK) gene. Mutant DMPK mRNA containing expa...

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Detalles Bibliográficos
Autores principales: Wang, Pei-Ying, Kuo, Ting-Yu, Wang, Lee-Hsin, Liang, Wen-Hsing, Wang, Guey-Shin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10018927/
https://www.ncbi.nlm.nih.gov/pubmed/36922901
http://dx.doi.org/10.1186/s40478-023-01540-x