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

Abstract 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 contai...

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Autores principales: Pei-Ying Wang, Ting-Yu Kuo, Lee-Hsin Wang, Wen-Hsing Liang, Guey-Shin Wang
Formato: Artigo
Lenguaje:Inglês
Publicado: BMC 2023-03-01
Colección:Acta Neuropathologica Communications
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Acceso en línea:https://doi.org/10.1186/s40478-023-01540-x
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