Association of mutations in a lysosomal protein with classical late- infantile neuronal ceroid lipofuscinosis

David E. Sleat, Robert J. Donnelly, Henry Lackland, Chang Gong Liu, Istvan Sohar, Raju K. Pullarkat, Peter Lobel

Research output: Contribution to journalArticlepeer-review

497 Scopus citations

Abstract

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 LINCL. Sequence comparisons suggest that this protein is a pepstatin-insensitive lysosomal peptidase, and a corresponding enzymatic activity was deficient in LINCL autopsy specimens. Mutations in the gene encoding this protein were identified in LINCL patients but not in normal controls.

Original languageEnglish (US)
Pages (from-to)1802-1805
Number of pages4
JournalScience
Volume277
Issue number5333
DOIs
StatePublished - Sep 19 1997

All Science Journal Classification (ASJC) codes

  • General

Fingerprint

Dive into the research topics of 'Association of mutations in a lysosomal protein with classical late- infantile neuronal ceroid lipofuscinosis'. Together they form a unique fingerprint.

Cite this