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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Pubblicato in:Am J Hum Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2019
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Article
Accesso online: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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