Kreutzer, R.; Kreutzer, M.; Sewell, A.C.; Techangamsuwan, S.; Leeb, Tosso; Baumgartner, W. (2009). Impact of beta-galactosidase mutations on the expression of the canine lysosomal multienzyme complex. Biochimica et biophysica acta - molecular basis of disease, 1792(10), pp. 982-7. New York, N.Y.: Elsevier 10.1016/j.bbadis.2009.07.004
Full text not available from this repository. (Request a copy)beta-galactosidase (GLB1) forms a functional lysosomal multienzyme complex with lysosomal protective protein (PPCA) and neuraminidase 1 (NEU1) which is important for its intracellular processing and activity. Mutations in the beta-galactosidase gene cause the lysosomal storage disease G(M1)-gangliosidosis. In order to identify additional molecular changes associated with the presence of beta-galactosidase mutations, the expression of canine lysosomal multienzyme complex components in GLB1(+/+), GLB1(+/-) and GLB1(-/-) fibroblasts was investigated by quantitative RT-PCR, Western blot and enzymatic assays. Quantitative RT-PCR revealed differential regulation of total beta-galactosidase, beta-galactosidase variants and protective protein for beta-galactosidase gene (PPGB) in GLB1(+/-) and GLB1(-/-) compared to GLB1(+/+) fibroblasts. Furthermore, it was shown that PPGB levels gradually increased with the number of mutant beta-galactosidase alleles while no change in the NEU1 expression was observed. This is the first study that simultaneously examine the effect of GLB1(+/+), GLB1(+/-) and GLB1(-/-) genotypes on the expression of lysosomal multienzyme complex components. The findings reveal a possible adaptive process in GLB1 homozygous mutant and heterozygous individuals that could facilitate the design of efficient therapeutic strategies.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) 05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics |
UniBE Contributor: |
Leeb, Tosso |
Subjects: |
500 Science > 590 Animals (Zoology) 600 Technology > 630 Agriculture |
ISSN: |
0925-4439 |
Publisher: |
Elsevier |
Language: |
English |
Submitter: |
Factscience Import |
Date Deposited: |
04 Oct 2013 15:25 |
Last Modified: |
05 Dec 2022 14:26 |
Publisher DOI: |
10.1016/j.bbadis.2009.07.004 |
Web of Science ID: |
000271071600005 |
URI: |
https://boris.unibe.ch/id/eprint/38298 (FactScience: 220954) |
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