Literature DB >> 15004560

A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes.

Nunzio Bottini1, Lucia Musumeci, Andres Alonso, Souad Rahmouni, Konstantina Nika, Masoud Rostamkhani, James MacMurray, Gian Franco Meloni, Paola Lucarelli, Maurizio Pellecchia, George S Eisenbarth, David Comings, Tomas Mustelin.   

Abstract

We report that a single-nucleotide polymorphism (SNP) in the gene (PTPN22) encoding the lymphoid protein tyrosine phosphatase (LYP), a suppressor of T-cell activation, is associated with type 1 diabetes mellitus (T1D). The variants encoded by the two alleles, 1858C and 1858T, differ in a crucial amino acid residue involved in association of LYP with the negative regulatory kinase Csk. Unlike the variant encoded by the more common allele 1858C, the variant associated with T1D does not bind Csk.

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 15004560     DOI： 10.1038/ng1323

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  451 in total

1.  Replication and further characterization of a Type 1 diabetes-associated locus at the telomeric end of the major histocompatibility complex.

Authors:  Erin E Baschal; Suparna A Sarkar; Theresa A Boyle; Janet C Siebert; Jean M Jasinski; Katharine R Grabek; Taylor K Armstrong; Sunanda R Babu; Pamela R Fain; Andrea K Steck; Marian J Rewers; George S Eisenbarth
Journal:  J Diabetes       Date:  2011-09       Impact factor: 4.006

2.  Autoimmune-associated PTPN22 R620W variation reduces phosphorylation of lymphoid phosphatase on an inhibitory tyrosine residue.

Authors:  Edoardo Fiorillo; Valeria Orrú; Stephanie M Stanford; Yingge Liu; Mogjiborahman Salek; Novella Rapini; Aaron D Schenone; Patrizia Saccucci; Lucia G Delogu; Federica Angelini; Maria Luisa Manca Bitti; Christian Schmedt; Andrew C Chan; Oreste Acuto; Nunzio Bottini
Journal:  J Biol Chem       Date:  2010-06-09       Impact factor: 5.157

Review 3.  Genetics of type 1 diabetes.

Authors:  Janelle A Noble; Henry A Erlich
Journal:  Cold Spring Harb Perspect Med       Date:  2012-01       Impact factor: 6.915

4.  Immunology: Csk keeps LYP on a leash.

Authors:  Ming-Chao Zhong; André Veillette
Journal:  Nat Chem Biol       Date:  2012-04-17       Impact factor: 15.040

Review 5.  Understanding type 1 diabetes through genetics: advances and prospects.

Authors:  Constantin Polychronakos; Quan Li
Journal:  Nat Rev Genet       Date:  2011-10-18       Impact factor: 53.242

6.  Associations between autoimmune thyroid disease prognosis and functional polymorphisms of susceptibility genes, CTLA4, PTPN22, CD40, FCRL3, and ZFAT, previously revealed in genome-wide association studies.

Authors:  Naoya Inoue; Mikio Watanabe; Hiroya Yamada; Kazuya Takemura; Fumiaki Hayashi; Noriko Yamakawa; Maiko Akahane; Yu Shimizuishi; Yoh Hidaka; Yoshinori Iwatani
Journal:  J Clin Immunol       Date:  2012-06-17       Impact factor: 8.317

7.  In silico screening for PTPN22 inhibitors: active hits from an inactive phosphatase conformation.

Authors:  Shuangding Wu; Massimo Bottini; Robert C Rickert; Tomas Mustelin; Lutz Tautz
Journal:  ChemMedChem       Date:  2009-03       Impact factor: 3.466

Review 8.  Influence of host immunoregulatory genes, ER stress and gut microbiota on the shared pathogenesis of inflammatory bowel disease and Type 1 diabetes.

Authors:  Altin Gjymishka; Roxana M Coman; Todd M Brusko; Sarah C Glover
Journal:  Immunotherapy       Date:  2013-12       Impact factor: 4.196

9.  Biomarkers for type 1 diabetes.

Authors:  Sharad Purohit; Jin-Xiong She
Journal:  Int J Clin Exp Med       Date:  2008-02-29

Review 10.  Thyroid Dysfunction and Diabetes Mellitus: Two Closely Associated Disorders.

Authors:  Bernadette Biondi; George J Kahaly; R Paul Robertson
Journal:  Endocr Rev       Date:  2019-06-01       Impact factor: 19.871
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.