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Year Number of Results
2016 4
2017 2
2018 2
2019 2
2020 4
2021 3
2022 3
2023 2
2024 1
2025 5
2026 1

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28 results

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Page 1
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.
Chkioua L, Amri Y, Chaima S, Fenni F, Boudabous H, Ben Turkia H, Messaoud T, Tebib N, Laradi S. Chkioua L, et al. BMC Med Genomics. 2021 Aug 23;14(1):208. doi: 10.1186/s12920-021-01061-3. BMC Med Genomics. 2021. PMID: 34425818 Free PMC article.
METHODS: All exons and flanking intron regions of FUCA1 were screened by direct sequencing to identify mutations and polymorphisms in three unrelated families with fucosidosis. ...We verified that this sequence variation did not correspond to a polymorphism by testing 50 u …
METHODS: All exons and flanking intron regions of FUCA1 were screened by direct sequencing to identify mutations and polymorphisms in …
Downregulation of α-l-fucosidase 1 suppresses glioma progression by enhancing autophagy and inhibiting macrophage infiltration.
Xu L, Li Z, Song S, Chen Q, Mo L, Wang C, Fan W, Yan Y, Tong X, Yan H. Xu L, et al. Cancer Sci. 2020 Jul;111(7):2284-2296. doi: 10.1111/cas.14427. Epub 2020 May 16. Cancer Sci. 2020. PMID: 32314457 Free PMC article.
However, the clinical significance and biological roles of FUCA1 in glioma remain largely unknown. We analyzed FUCA1 expression according to data in Oncomine, The Cancer Genome Atlas, and Chinese Glioma Genome Atlas databases and further verified FUCA1 expres …
However, the clinical significance and biological roles of FUCA1 in glioma remain largely unknown. We analyzed FUCA1 expressio …
Potential predictive value of immune-related genes FUCA1 and NCKAP1L for osteosarcoma metastasis.
Wang X, Dou J, Liu M, Zhang Y, Li Y, Tong Z. Wang X, et al. Gene. 2024 Nov 15;927:148645. doi: 10.1016/j.gene.2024.148645. Epub 2024 Jun 5. Gene. 2024. PMID: 38844271 Free article.
Validation of gene expression patterns was performed using polymerase chain reaction, western blot, and immunohistochemistry. RESULTS: The study identified FUCA1 and NCKAP1L as significantly enriched in non-metastatic osteosarcoma, with higher expression associated with be …
Validation of gene expression patterns was performed using polymerase chain reaction, western blot, and immunohistochemistry. RESULTS: The s …
A novel homozygous frameshift mutation in the FUCA1 gene causes both severe and mild fucosidosis.
Saleh-Gohari N, Saeidi K, Zeighaminejad R. Saleh-Gohari N, et al. J Clin Pathol. 2018 Sep;71(9):821-824. doi: 10.1136/jclinpath-2018-205074. Epub 2018 Mar 27. J Clin Pathol. 2018. PMID: 29588375
AIMS: Fucosidosis is a rare autosomal recessive lysosomal storage disorder caused by alpha-L-fucosidase deficiency as a result of FUCA1 gene mutations. Here, we studied clinical features and the molecular basis of fucosidosis in a family from Iran, including two probands a …
AIMS: Fucosidosis is a rare autosomal recessive lysosomal storage disorder caused by alpha-L-fucosidase deficiency as a result of FUCA1 …
Novel mutations in the FUCA1 gene that cause fucosidosis.
Panmontha W, Amarinthnukrowh P, Damrongphol P, Desudchit T, Suphapeetiporn K, Shotelersuk V. Panmontha W, et al. Genet Mol Res. 2016 Sep 16;15(3). doi: 10.4238/gmr.15038733. Genet Mol Res. 2016. PMID: 27706744 Free article.
The disease is caused by mutations in the FUCA1 gene that lead to deficiency of a-L-fucosidase. Here, we describe the clinical and molecular features of a Thai boy with fucosidosis. ...Neither mutation has been reported before so the FUCA1 mutational spectrum is her …
The disease is caused by mutations in the FUCA1 gene that lead to deficiency of a-L-fucosidase. Here, we describe the clinical and mo …
Identification of a novel homozygous loss-of-function mutation in FUCA1 gene causing severe fucosidosis: A case report.
Zhang X, Zhao S, Liu H, Wang X, Wang X, Du N, Liu H, Duan H. Zhang X, et al. J Int Med Res. 2021 Apr;49(4):3000605211005975. doi: 10.1177/03000605211005975. J Int Med Res. 2021. PMID: 33906529 Free PMC article.
Whole exome sequencing (WES) identified a novel homozygous single nucleotide deletion (c.82delG) in the exon 1 of the FUCA1 gene. This mutation will lead to a frameshift which will result in the formation of a truncated FUCA1 protein (p.Val28Cysfs*105) of 132 amino …
Whole exome sequencing (WES) identified a novel homozygous single nucleotide deletion (c.82delG) in the exon 1 of the FUCA1 gene. Thi …
Novel p53 target gene FUCA1 encodes a fucosidase and regulates growth and survival of cancer cells.
Ezawa I, Sawai Y, Kawase T, Okabe A, Tsutsumi S, Ichikawa H, Kobayashi Y, Tashiro F, Namiki H, Kondo T, Semba K, Aburatani H, Taya Y, Nakagama H, Ohki R. Ezawa I, et al. Cancer Sci. 2016 Jun;107(6):734-45. doi: 10.1111/cas.12933. Epub 2016 May 16. Cancer Sci. 2016. PMID: 26998741 Free PMC article.
FUCA1 loss-of-function mutations are found in several cancers, its expression is reduced in cancers of the large intestine, and low FUCA1 expression is associated with poorer prognosis in several cancers. These results show that protein defucosylation mediated by …
FUCA1 loss-of-function mutations are found in several cancers, its expression is reduced in cancers of the large intestine, and low …
FUCA1 is induced by wild-type p53 and expressed at different levels in thyroid cancers depending on p53 status.
Tsuchida N, Ikeda MA, Ιshino Υ, Grieco M, Vecchio G. Tsuchida N, et al. Int J Oncol. 2017 Jun;50(6):2043-2048. doi: 10.3892/ijo.2017.3968. Epub 2017 Apr 20. Int J Oncol. 2017. PMID: 28440416
By the differential display method, we isolated a 3' non-coding region of alpha-L-fucosidase-1 (FUCA1) (a gene coding for the lysosomal fucosidase-1 enzyme) as a wild-type p53-inducible gene: 18S and 20S FUCA1 mRNA species were induced in Saos-2 cells transfected wi …
By the differential display method, we isolated a 3' non-coding region of alpha-L-fucosidase-1 (FUCA1) (a gene coding for the lysosom …
p53 directly regulates the glycosidase FUCA1 to promote chemotherapy-induced cell death.
Baudot AD, Crighton D, O'Prey J, Somers J, Sierra Gonzalez P, Ryan KM. Baudot AD, et al. Cell Cycle. 2016 Sep;15(17):2299-308. doi: 10.1080/15384101.2016.1191714. Epub 2016 Jun 17. Cell Cycle. 2016. PMID: 27315169 Free PMC article.
We present here another level of control in p53-mediated tumor suppression by showing that p53 activates the glycosidase, FUCA1, a modulator of N-linked glycosylation. We show that p53 transcriptionally activates FUCA1 and that p53 modulates fucosidase activity via …
We present here another level of control in p53-mediated tumor suppression by showing that p53 activates the glycosidase, FUCA1, a mo …
Fucosidosis: A Review of a Rare Disease.
Pekdemir B, Bechelany M, Karav S. Pekdemir B, et al. Int J Mol Sci. 2025 Jan 3;26(1):353. doi: 10.3390/ijms26010353. Int J Mol Sci. 2025. PMID: 39796208 Free PMC article. Review.
Fucosidosis is a rare lysosomal storage disease caused by alpha-L-fucosidase deficiency following a mutation in the FUCA1 gene. This enzyme is responsible for breaking down fucose-containing glycoproteins, glycolipids, and oligosaccharides within the lysosome. Mutations in …
Fucosidosis is a rare lysosomal storage disease caused by alpha-L-fucosidase deficiency following a mutation in the FUCA1 gene. This …
28 results