Format

Send to

Choose Destination
Science. 1997 Sep 19;277(5333):1802-5.

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

Author information

1
Center for Advanced Biotechnology and Medicine, Piscataway, NJ 08854, USA.

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.

PMID:
9295267
[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for HighWire
Loading ...
Support Center