Torsins: not your typical AAA+ ATPases.
New Haven, United States. In Crit Rev Biochem Mol Biol, Nov 2015
Studying Torsins has significant medical relevance since mutations in Torsins or Torsin-associated proteins result in a variety of congenital human disorders, the most frequent of which is early-onset torsion (DYT1) dystonia, a severe movement disorder.
Generating Transgenic Mouse Models for Studying Celiac Disease.
Rochester, United States. In Methods Mol Biol, 2014
Human Leukocyte Antigen class II molecules have been a particular target for transgenic mice due to their tight association with celiac disease, and a number of murine models have been developed which had the endogenous MHC class II genes replaced with insertions of disease susceptible HLA class II alleles DQ2 or DQ8.
Microbiome and Gluten.
Valencia, Spain. In Ann Nutr Metab, 2014
Celiac disease (CD) is a frequent chronic inflammatory enteropathy caused by gluten in genetically predisposed individuals that carry disease susceptibility genes (HLA-DQ2/8).
Celiac disease: an immunological jigsaw.
Paris, France. In Immunity, 2012
The keystone of CD pathogenesis is an adaptive immune response orchestrated by the interplay between gluten and MHC class II HLA-DQ2 and DQ8 molecules.