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Concomitant gain and loss of function pathomechanisms in C9ORF72 amyotrophic lateral sclerosis

Intronic hexanucleotide repeat expansions (HREs) in C9ORF72 are the most frequent genetic cause of amyotrophic lateral sclerosis, a devastating, incurable motoneuron (MN) disease. The mechanism by which HREs trigger pathogenesis remains elusive. The discovery of repeat-associated non-ATG (RAN) trans...

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Detalles Bibliográficos
Autores principales: Pal, Arun, Kretner, Benedikt, Abo-Rady, Masin, Glaβ, Hannes, Dash, Banaja P, Naumann, Marcel, Japtok, Julia, Kreiter, Nicole, Dhingra, Ashutosh, Heutink, Peter, Böckers, Tobias M, Günther, René, Sterneckert, Jared, Hermann, Andreas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Life Science Alliance LLC 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918691/
https://www.ncbi.nlm.nih.gov/pubmed/33619157
http://dx.doi.org/10.26508/lsa.202000764