Article
Skeletal and hematological anomalies in HYAL2-deficient mice: a second type of mucopolysaccharidosis IX?
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Dec 2008
Jadin Laurence, Wu Xiaoli, Ding Hao, Frost Gregory I, Onclinx Cécile, Triggs-Raine Barbara, Flamion Bruno
Abstract excerpt
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...
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