ArticleAmerican journal of human genetics1988
Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis.
Article in American journal of human genetics, 1988. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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Who cites it
23 citing papers in PubMed, 41 citations in OpenAlex.
- Case Report: A rare case of fucosidosis caused by a novel homozygous pathogenic variant in the FUCA1 gene within a 17.2 Mb region of homozygosity.Frontiers in medicine · 2026Article
- Recovery of α-L-fucosidase in fucosidosis nonsense variants by readthrough stimulation and release factor degradation.Disease models & mechanisms · 2026Article
- Emerging cellular themes in leukodystrophies.Frontiers in cell and developmental biology · 2022Review
- Identification of a novel homozygousThe Journal of international medical research · 2021Article
- Article
- Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series.Genes · 2020Review
- Downregulation of α-l-fucosidase 1 suppresses glioma progression by enhancing autophagy and inhibiting macrophage infiltration.Cancer science · 2020Article
- Canine Models of Inherited Musculoskeletal and Neurodegenerative Diseases.Frontiers in veterinary science · 2020Review
- Identification and characterization of a core fucosidase from the bacteriumThe Journal of biological chemistry · 2018Article
- Novel p53 target gene FUCA1 encodes a fucosidase and regulates growth and survival of cancer cells.Cancer science · 2016Article
- From caveman companion to medical innovator: genomic insights into the origin and evolution of domestic dogs.Advances in genomics and genetics · 2015Article
- The molecular defect underlying canine fucosidosis.Journal of medical genetics · 1996Article
- Isolation of the canine alpha-L-fucosidase cDNA and definition of the fucosidosis mutation in English Springer Spaniels.Mammalian genome : official journal of the International Mammalian Genome Society · 1996Article
- Genetically polymorphic alpha-L-fucosidase (FUCA1) isozymes detected in blood plasma.Human genetics · 1994Article
- A 5' splice site mutation in fucosidosis.Journal of medical genetics · 1993Article
- Binding receptors for alpha-L-fucosidase in human B-lymphoid cell lines.Glycoconjugate journal · 1992Article
- Sequencing and expression of a full-length cDNA for human alpha-L-fucosidase.Journal of inherited metabolic disease · 1990Article
- Prenatal diagnosis of enzyme defects.Archives of disease in childhood · 1990Review
- Isolation and sequence analysis of a cDNA encoding rat liver alpha-L-fucosidase.The Biochemical journal · 1989Article
- Abnormal expression of alpha-L-fucosidase in lymphoid cell lines of fucosidosis patients.Biochemical genetics · 1989Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
Fucosidosis is an autosomal recessive lysosomal storage disorder characterized by progressive neurological deterioration and mental retardation. The disease results from deficient activity of alpha-L-fucosidase (E.C.3.2.1.51), a lysosomal enzyme that hydrolyzes fucose from fucoglycoconjugates. In an attempt to identify the mutation(s) that result(s) in fucosidosis, we performed Southern blot analysis of the structural gene encoding alpha-L-fucosidase (FUCA 1) in 23 patients affected with fucosidosis. In five patients Southern blot analysis showed obliteration of an EcoRI restriction site in the open reading frame of FUCA 1 encoding mature alpha-L-fucosidase. This abnormality was not observed in 80 controls, and it may be the basic defect responsible for fucosidosis in these patients. Both patients with the severe type I form of fucosidosis and patients with the less severe type II were shown to be homozygous for this presumed mutation. In the remaining 18 patients the EcoRI site obliteration, major-gene deletions, or insertions were not detected. This suggests that at least two different mutations are involved in fucosidosis. The heterogeneity found at the DNA level was not present at the protein level, as all fucosidosis patients investigated had low fucosidase protein (less than 6% of normal) and negligible fucosidase activity in fibroblasts and lymphoblastoid cell lines.
Indexed as
Identifiers
2903668PMC1715535W129069475What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.