Cystinuria: an inborn cause of urolithiasis.
Aachen, Germany. In Orphanet J Rare Dis, 2011
So far, two genes responsible for cystinuria have been identified: SLC3A1 (chromosome 2p21) encodes the heavy subunit rBAT of a renal b(0,+) transporter while SLC7A9 (chromosome 19q12) encodes its interacting light subunit b(0,+)AT.
Mismatch repair proteins as sensors of alkylation DNA damage.
San Diego, United States. In Cancer Cell, 2006
In a recent issue of Molecular Cell, Yoshioka and coworkers show that MMR complexes (MutSalpha and MutLalpha) are required for the recruitment of ATR-ATRIP to sites of alkylation damage, demonstrating that MMR complexes can function as sensors in DNA damage signal transduction.
TopBP1 activates the ATR-ATRIP complex.
Pasadena, United States. In Cell, 2006
Data show that recombinant TopBP1 induces a large increase in the kinase activity of both Xenopus and human ATR-ATRIP.