MTM1 mutations in X-linked myotubular myopathy.
Illkirch-Graffenstaden, France. In Hum Mutat, 1999
Most point mutations are truncating, but 26% (35/133) are missense mutations affecting residues conserved in the Drosophila ortholog and in the homologous MTMR1 gene.
Identification of functional PDZ domain binding sites in several human proteins.
Lyon, France. In Mol Biol Rep, 1999
A two-hybrid screen performed with TIP-15 as bait revealed the presence of a PDZ binding site (PDZ-BS) in the following proteins: Lysyl tRNA synthetase, 6-phosphogluconolactonase (6-GPL), Stress-activated protein kinase 3 (SAPK3), NET-1, Diacylglycerol kinase zeta, MTMR1, MCM7, and hSec8.