The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
LYSOSOMAL STORAGE DISEASES
Abstract
Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These disorders are individually rare but collectively affect 1 in 5,000 live births. LSDs typically present in infancy and childhood, although adult-onset forms also occur. Most LSDs have a progressive neurodegenerative clinical course, although symptoms in other organ systems are frequent. LSD-associated genes encode different lysosomal proteins, including lysosomal enzymes and lysosomal membrane proteins. The lysosome is the key cellular hub for macromolecule catabolism, recycling and signalling, and defects that impair any of these functions cause the accumulation of undigested or partially digested macromolecules in lysosomes (that is, 'storage') or impair the transport of molecules, which can result in cellular damage. Consequently, the cellular pathogenesis of these diseases is complex and is currently incompletely understood. Several LSDs can be treated with approved, disease-specific therapies that are mostly based on enzyme replacement. However, small-molecule therapies, including substrate reduction and chaperone therapies, have also been developed and are approved for some LSDs, whereas gene therapy and genome editing are at advanced preclinical stages and, for a few disorders, have already progressed to the clinic.
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Cites
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
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Heat shock protein–based therapy as a potential candidate for treating the sphingolipidoses
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Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease
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Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway
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Cited by
Lectins: Carbohydrate-Specific Proteins That Mediate Cellular Recognition
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Lysosomes as dynamic regulators of cell and organismal homeostasis
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Protein Glycosylation in Cancer
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Metadata
- Authors
- Neufeld, E. F.
- Venue
- Annual Review of Biochemistry
- Publisher
- Annual Reviews
- Published
- 1991-06
- Volume
- 60
- Issue
- 1
- Pages
- 257-280
- ISSN
- 0066-4154 (ISSN-L)
- 1545-4509
- OpenAlex
- W2115864709
- Cited by
- 900
- References
- 10
- FWCI
- 10.53
- Type
- journal article
- Language
- en
- Open access
- closed
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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.
