Skeletal and hematological anomalies in HYAL2-deficient mice: a second type of mucopolysaccharidosis IX?

@article{Jadin2008SkeletalAH,
  title={Skeletal and hematological anomalies in HYAL2-deficient mice: a second type of mucopolysaccharidosis IX?},
  author={Laurence Jadin and Xiaoli Wu and Hao Ding and Gregory Ian Frost and C{\'e}cile Onclinx and Barbara Triggs-Raine and Bruno Flamion},
  journal={FASEB journal : official publication of the Federation of American Societies for Experimental Biology},
  year={2008},
  volume={22 12},
  pages={4316-26}
}
The metabolism of hyaluronan (HA) relies on HA synthases and hyaluronidases, among which hyaluronidase-1 (HYAL1) and -2 (HYAL2) have been proposed as key actors. Congenital HYAL1 deficiency leads to mucopolysaccharidosis IX (MPS IX), a rare lysosomal storage disorder characterized by joint abnormalities. Knowledge of HYAL2 is limited. This protein displays weak in vitro hyaluronidase activity and acts as a receptor for oncogenic ovine retroviruses. We have generated HYAL2-deficient mice through… CONTINUE READING
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