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Association of Mutations in a Lysosomal Protein with Classical Late-Infantile Neuronal Ceroid Lipofuscinosis
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.
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Citations
Cited by
Prevalence of lysosomal storage disorders
Meikle, P. J. (1999) · JAMA · doi:10.1001/jama.281.3.249 · Cited by 2,197
Study of Intraventricular Cerliponase Alfa for CLN2 Disease
Schulz, A., Ajayi, T., Specchio, N., de Los Reyes, E., Gissen, P., Ballon, D., Dyke, J. P., Cahan, H., Slasor, P., Jacoby, D., et al. (2018) · New England Journal of Medicine · doi:10.1056/nejmoa1712649 · Cited by 489
Serine peptidases: Classification, structure and function
Page, M. J., & Di Cera, E. (2008) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-008-7565-9 · Cited by 438
The Metabolic Serine Hydrolases and Their Functions in Mammalian Physiology and Disease
Long, J. Z., & Cravatt, B. F. (2011) · Chemical Reviews · doi:10.1021/cr200075y · Cited by 425
Worgall, S., Sondhi, D., Hackett, N. R., Kosofsky, B., Kekatpure, M. V., Neyzi, N., Dyke, J. P., Ballon, D., Heier, L., Greenwald, B. M., et al. (2008) · Human Gene Therapy · doi:10.1089/hum.2008.022 · Cited by 402
Metadata
- Authors
- Sleat, D. E., Donnelly, R. J., Lackland, H., Liu, C.-G., Sohar, I., Pullarkat, R. K., & Lobel, P.
- Venue
- Science
- Published
- 1997-09-19
- Volume
- 277
- Issue
- 5333
- Pages
- 1802-1805
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2020278806
- Cited by
- 581
- References
- 0
- FWCI
- 22.58
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Association of Mutations in a Lysosomal Protein with Classical Late-Infantile Neuronal Ceroid Lipofuscinosis. https://app.cochat.ai/papers/10.1126/science.277.5333.1802
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- Sleat, D. E., Donnelly, R. J., Lackland, H., Liu, C.-G., Sohar, I., Pullarkat, R. K., & Lobel, P. (1997). Association of Mutations in a Lysosomal Protein with Classical Late-Infantile Neuronal Ceroid Lipofuscinosis. Science. https://doi.org/10.1126/science.277.5333.1802
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
