The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region.

@article{Montao2000TheMN,
  title={The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region.},
  author={Adriana Maria Monta{\~n}o and Atsushi Yamagishi and Shunji Tomatsu and Seiji Fukuda and Neal G. Copeland and Kenji E. Orii and K. Isogai and Naoto Yamada and Zen-ichiro Kato and Nancy A. Jenkins and Debra J. Gilbert and Kazuko Sukegawa and Tadao Orii and Naomi Kondo},
  journal={Biochimica et biophysica acta},
  year={2000},
  volume={1500 3},
  pages={323-34}
}
Deficiency of lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS) leads to mucopolysaccharidosis IV A (MPS IV A), for which there is no definitive treatment so far. Although a number of mutations of the GALNS gene of MPS IV A patients have been described, pathogenesis of the disorder still remains elusive. In order to facilitate in vivo studies using model animals for MPS IV A, we isolated and performed molecular characterization of the mouse homolog of human GALNS. The 2.3-kb… CONTINUE READING