The DOI matches its Crossref record; 86 of the 86 references it cites were found in a registry or an index.
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
Abstract
Gaucher disease (GD) is an autosomal recessive disorder caused by the deficiency of glucocerebrosidase, a lysosomal enzyme that catalyses the hydrolysis of the glycolipid glucocerebroside to ceramide and glucose. Lysosomal storage of the substrate in cells of the reticuloendothelial system leads to multisystemic manifestations, including involvement of the liver, spleen, bone marrow, lungs, and nervous system. Patients with GD have highly variable presentations and symptoms that, in many cases, do not correlate well with specific genotypes. Almost 300 unique mutations have been reported in the glucocerebrosidase gene (GBA), with a distribution that spans the gene. These include 203 missense mutations, 18 nonsense mutations, 36 small insertions or deletions that lead to either frameshifts or in-frame alterations, 14 splice junction mutations, and 13 complex alleles carrying two or more mutations in cis. Recombination events with a highly homologous pseudogene downstream of the GBA locus also have been identified, resulting from gene conversion, fusion, or duplication. In this review we discuss the spectrum of GBA mutations and their distribution in the patient population, evolutionary conservation, clinical presentations, and how they may affect the structure and function of glucocerebrosidase.
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Cites
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Self-citationA Mutation in the Human Glucocerebrosidase Gene in Neuronopathic Gaucher's Disease
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Murphy, K. E., Gysbers, A. M., Abbott, S. K., Tayebi, N., Kim, W. S., Sidransky, E., Cooper, A., Garner, B., & Halliday, G. M. (2014) · Brain · doi:10.1093/brain/awt367 · Cited by 475
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Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease
Maegawa, G. H. B., Tropak, M. B., Buttner, J. D., Rigat, B. A., Fuller, M., Pandit, D., Tang, L., Kornhaber, G. J., Hamuro, Y., Clarke, J. T. R., et al. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.012393 · Cited by 332
Metadata
- Authors
- Hruska, K. S., LaMarca, M. E., Scott, C. R., & Sidransky, E.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2008-03-12
- Volume
- 29
- Issue
- 5
- Pages
- 567-583
- ISSN
- 1059-7794 (ISSN-L)
- OpenAlex
- W2007348345
- Cited by
- 678
- References
- 86
- FWCI
- 16.69
- Type
- journal article
- Language
- en
- Open access
- closed
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