Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

The ubiquitin fold modifier 1 (UFM1) cascade is a recently identified evolutionarily conserved ubiquitin-like modification system whose function and link to human disease have remained largely uncharacterized. By using exome sequencing in Finnish individuals with severe epileptic syndromes, we ident...

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Pubblicato in:Am J Hum Genet
Autori principali: Muona, Mikko, Ishimura, Ryosuke, Laari, Anni, Ichimura, Yoshinobu, Linnankivi, Tarja, Keski-Filppula, Riikka, Herva, Riitta, Rantala, Heikki, Paetau, Anders, Pöyhönen, Minna, Obata, Miki, Uemura, Takefumi, Karhu, Thomas, Bizen, Norihisa, Takebayashi, Hirohide, McKee, Shane, Parker, Michael J., Akawi, Nadia, McRae, Jeremy, Hurles, Matthew E., Kuismin, Outi, Kurki, Mitja I., Anttonen, Anna-Kaisa, Tanaka, Keiji, Palotie, Aarno, Waguri, Satoshi, Lehesjoki, Anna-Elina, Komatsu, Masaaki
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5010641/
https://ncbi.nlm.nih.gov/pubmed/27545674
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.06.020
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