Novel human lysosomal protein and methods of its u

专利名称：Novel human lysosomal protein and

methods of its use

发明人：Peter Lobel,David Sleat申请号：US10643233申请日：20030818

公开号：US20040081989A1公开日：20040429

专利附图：

摘要：The gene associated and causative of classical late infantile neuronal ceroidlipofuscinosis (LINCL), CLN2, has been identified and characterized. The translationproduct of this gene is a novel protease and a deficiency in this activity results in LINCL.

Identification of CLN2 will not only aid in the prevention of LINCL through geneticcounseling but provides strategies and test systems for therapeutic intervention. Inaddition, further characterization of this previously unknown lysosomal enzyme mayprovide useful insights into other more common human neurodegenerative disorders.Finally, the utility of a general approach for determining the molecular bases forlysosomal disorders of unknown etiology has been demonstrated.

申请人：LOBEL PETER,SLEAT DAVID

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