TY  - JOUR
AU  - Díaz-Barreiro, A
AU  - Bernal-Quirós, M
AU  - Georg, I
AU  - Marañón, C
AU  - Alarcón-Riquelme, M E
AU  - Castillejo-López, C
PY  - 2016
DO  - 10.1038/gene.2016.1
UR  - http://hdl.handle.net/10668/9787
T2  - Genes and immunity
AB  - The B-lymphocyte kinase (BLK) gene is associated genetically with several human autoimmune diseases including systemic lupus erythematosus. We recently described that the genetic risk is given by two haplotypes: one covering several strongly linked...
LA  - en
KW  - Adaptor Proteins, Signal Transducing
KW  - Amino Acid Sequence
KW  - Amino Acid Substitution
KW  - B-Lymphocytes
KW  - Binding Sites
KW  - Cell Line, Tumor
KW  - Gene Expression
KW  - Half-Life
KW  - Haplotypes
KW  - Humans
KW  - Lupus Erythematosus, Systemic
KW  - Membrane Proteins
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Promoter Regions, Genetic
KW  - Proteasome Endopeptidase Complex
KW  - Protein Binding
KW  - Protein Isoforms
KW  - Proteolysis
KW  - Sequence Alignment
KW  - Ubiquitination
KW  - src-Family Kinases
TI  - The SLE variant Ala71Thr of BLK severely decreases protein abundance and binding to BANK1 through impairment of the SH3 domain function.
TY  - research article
VL  - 17
ER  -