ArticleJournal of human genetics2007
Mutation identification and characterization of a Taiwanese patient with fucosidosis.
Article in Journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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Who cites it
6 citing papers in PubMed.
- Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series.Genes · 2020Review
- Review
- Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases.Medical science monitor : international medical journal of experimental and clinical research · 2019Article
- Brain abnormalities in fucosidosis: transplantation or supportive therapy?Metabolic brain disease · 2017Article
- Maternal nutrition modulates fetal development by inducing placental efficiency changes in gilts.BMC genomics · 2017Article
- Decreased expression of alpha-L-fucosidase gene FUCA1 in human colorectal tumors.International journal of molecular sciences · 2013Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fucosidosis is a rare lysosomal storage disease caused by a defect of the alpha-L: -fucosidase (FUCA1) gene. Worldwide 26 mutations underlying the disease have been reported. By direct DNA sequencing of exons and flanking introns, homozygous Y126X mutation and Q281R polymorphism were found in a Taiwanese patient with fucosidosis. Upon expressing in COS-7 cells, 97.4% of alpha-L: -fucosidase activity compared with that of the wild-type construct was observed in the cDNA containing Q281R polymorphism. Western blot analysis revealed a 58-kDa precursor and 56-kDa mature forms for cells transfected with wild-type and Q281R enzymes. Using the fluorogenic substrate, the Michaelis constants and maximal velocities of both enzymes were very similar. While no appreciable enzyme activity (0.0%) was observed with Y126X mutation, no apparent decrease in FUCA1 mRNA level was seen with Y126X mutation. The expressed truncated Y126X protein was unstable and largely degraded. The delineation of the molecular defect could serve to complement future prenatal diagnosis for this family when necessary.
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Registered trials
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