Article
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.
Science (New York, N.Y.) - 19 Sept 1997
Sleat D E, Donnelly R J, Lackland H, Liu C G, Sohar I, Pullarkat R K, Lobel P
Abstract excerpt
Classical late-infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal neurodegenerative disease whose defective gene has remained elusive. A molecular basis for LINCL was determined with an approach applicable to other lysosomal storage diseases. When the mannose 6-phosphate modification of newly synthesized lysosomal enzymes was used as an affinity marker, a single protein was identified that is absent in...
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