Syndromic immune disorder caused by a viable hypomorphic allele of spliceosome component Snrnp40

We report a new immunodeficiency disorder in mice caused by a viable hypomorphic mutation of Snrnp40, an essential gene encoding a subunit of the U5 small nuclear ribonucleoprotein (snRNP) complex of the spliceosome. Snrnp40 is ubiquitous but strongly expressed in lymphoid tissue. Homozygous mutant...

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Pubblicato in:Nat Immunol
Autori principali: Zhang, Duanwu, Yue, Tao, Choi, Jin Huk, Nair-Gill, Evan, Zhong, Xue, Wang, Kuan-wen, Zhan, Xiaoming, Li, Xiaohong, Choi, Mihwa, Tang, Miao, Quan, Jiexia, Hildebrand, Sara, Moresco, Eva Marie Y., Beutler, Bruce
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2019
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7179765/
https://ncbi.nlm.nih.gov/pubmed/31427773
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41590-019-0464-4
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