Functionally defective germline variants of sialic acid acetylesterase in autoimmunity

Sialic acid acetylesterase (SIAE) is an enzyme that negatively regulates B lymphocyte antigen receptor signaling and is required for the maintenance of immunological tolerance in mice1, 2. Heterozygous loss-of-function germline rare variants and a homozygous defective polymorphic variant of SIAE wer...

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Detalles Bibliográficos
Autores principales: Surolia, Ira, Pirnie, Stephan P., Chellappa, Vasant, Taylor, Kendra N., Cariappa, Annaiah, Moya, Jesse, Liu, Haoyuan, Bell, Daphne W., Driscoll, David, Diederichs, Sven, Haider, Khaleda, Netravali, Ilka, Le, Sheila, Elia, Roberto, Dow, Ethan, Lee, Annette, Freudenberg, Jan, De Jager, Philip L., Chretien, Yves, Varki, Ajit, MacDonald, Marcy E., Gillis, Tammy, Behrens, Timothy W., Bloch, Donald, Collier, Deborah, Korzenik, Joshua, Podolsky, Daniel K., Hafler, David, Murali, Mandakolathur, Sands, Bruce, Stone, John H., Gregersen, Peter K., Pillai, Shiv
Formato: Texto
Lenguaje:English
Publicado: 2010
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2900412/
https://www.ncbi.nlm.nih.gov/pubmed/20555325
http://dx.doi.org/10.1038/nature09115

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