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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus
Human Molecular Genetics, Volume 18, No. 3, Year 2008
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Description
A gain-of-function R620W polymorphism in the PTPN22 gene, encoding the lymphoid tyrosine phosphatase LYP, has recently emerged as an important risk factor for human autoimmunity. Here we report that another missense substitution (R263Q) within the catalytic domain of LYP leads to reduced phosphatase activity. High-resolution structural analysis revealed the molecular basis for this loss of function. Furthermore, the Q263 variant conferred protection against human systemic lupus erythematosus, reinforcing the proposal that inhibition of LYP activity could be beneficial in human autoimmunity. © The Author 2008. Published by Oxford University Press. All rights reserved.
Authors & Co-Authors
Orrú, Valeria
United States, Los Angeles
University of Southern California
Fiorillo, Edoardo
United States, Los Angeles
University of Southern California
Hartiala, Jaana A.
United States, Los Angeles
University of Southern California
Ortego-Centeno, Norberto
Spain, Granada
Hospital Universitario San Cecilio
D’Alfonso, Sandra
Italy, Vercelli
Università Degli Studi Del Piemonte Orientale Amedeo Avogadro
González-Gay, Miguel Ángel
Spain, Lugo
Complejo Hospitalario Xeral Calde
Tsao, Betty P.
United States, Los Angeles
University of California, Los Angeles
Alarcón-Riquelme, Marta Eugenia
Sweden, Uppsala
Uppsala Universitet
Allayee, Hooman
United States, Los Angeles
University of Southern California
Martin, Javier
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Bottini, Nunzio
United States, Los Angeles
University of Southern California
Galeazzi, Mauro
Italy, Siena
Università Degli Studi Di Siena
Statistics
Citations: 110
Authors: 12
Affiliations: 14
Identifiers
Doi:
10.1093/hmg/ddn363
ISSN:
09646906
Research Areas
Genetics And Genomics