A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype.

@article{Forlino2005ADD,
  title={A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype.},
  author={Antonella Forlino and Rocco Piazza and Cecilia Tiveron and Sara Della Torre and Laura Tatangelo and Luisa Bonafė and Benedetta Gualeni and Assunta Romano and Fabio Pecora and Andrea Superti-Furga and Giuseppe Cetta and Antonio Rossi},
  journal={Human molecular genetics},
  year={2005},
  volume={14 6},
  pages={859-71}
}
Mutations in the diastrophic dysplasia sulfate transporter (DTDST or SLC26A2) cause a family of recessively inherited chondrodysplasias including, in order of decreasing severity, achondrogenesis 1B, atelosteogenesis 2, diastrophic dysplasia (DTD) and recessive multiple epiphyseal dysplasia. The gene encodes a widely distributed sulfate/chloride antiporter of the cell membrane whose function is crucial for the uptake of inorganic sulfate, which is needed for proteoglycan sulfation. To provide… CONTINUE READING