ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia

Familial dysautonomia (FD) is a recessive neurodegenerative disease caused by a splice mutation in Elongator complex protein 1 (ELP1, also known as IKBKAP); this mutation leads to variable skipping of exon 20 and to a drastic reduction of ELP1 in the nervous system. Clinically, many of the debilitat...

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Publicado no:Am J Hum Genet
Main Authors: Morini, Elisabetta, Gao, Dadi, Montgomery, Connor M., Salani, Monica, Mazzasette, Chiara, Krussig, Tobias A., Swain, Brooke, Dietrich, Paula, Narasimhan, Jana, Gabbeta, Vijayalakshmi, Dakka, Amal, Hedrick, Jean, Zhao, Xin, Weetall, Marla, Naryshkin, Nikolai A., Wojtkiewicz, Gregory G., Ko, Chien-Ping, Talkowski, Michael E., Dragatsis, Ioannis, Slaugenhaupt, Susan A.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6451698/
https://ncbi.nlm.nih.gov/pubmed/30905397
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.02.009
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