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Homozygous frameshift mutation in the FUCA1 gene causes both severe and mild fucosidosis.
alterations in plasma levels of FUCA-1 were significantly associated with chronic inflammatory and autoimmune disorders, both in children and adults
the down-regulation of FUCA-1 correlates with increased aggressiveness of the cancer type. This is the first report indicating that the down-regulation of FUCA-1 is related to the increased aggressiveness of thyroid cancer.
the possibility that the higher fucose levels on cell surface glycans of aggressive anaplastic thyroid cancer samples (ATCs (show CHST14 Proteins)), compared to those of less aggressive papillary thyroid cancer samples(PTC (show F9 Proteins)), may be at least in part responsible for the more aggressive and metastatic phenotype of ATCs (show CHST14 Proteins) compared to PTCs, as the expression levels of FUCA1 and FUT8 (show FUT8 Proteins) were inversely related in these two types of cancers.
RNAi-mediated knockdown of endogenous FUCA1 significantly attenuates p53 (show TP53 Proteins)-dependent, chemotherapy-induced apoptotic death.
whole exome sequencing and array-based comparative genomic hybridization analysis revealed that the patient was compound heterozygous for a single base-pair deletion inherited from his father, and a 3281-base-pair deletion covering exon 3 inherited from his mother. Neither mutation has been reported before so the FUCA1 mutational spectrum is herein expanded.
results show that protein defucosylation mediated by FUCA1 is involved in tumor suppression
FUCA1 downregulation confers inferior survival for triple-negative breast cancer patients by modulating the glycosylation status of the tumor cell surface
We observed significant lower values of GAL (show GAL Proteins), alpha-fucosidase and tendency to decrease of MAN and GLU (show DCTN1 Proteins) concentration in nasal polyps
Serum alpha-L-fucosidase levels were significantly elevated in hepatocellular carcinoma.
The results showed that FUC1 is an alpha-1,3-fucosidase acting on plant complex-type N-glycans and elucidated the degradation pathway of plant complex-type N-glycans.
The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.
, alpha-L-fucosidase I
, alpha-L-fucoside fucohydrolase 1
, tissue alpha-L-fucosidase
, fucosidase, alpha-L- 1, tissue
, fucosidase, alpha-L-1, tissue
, Fucosidase alpha-L-1 tissue
, Fucosidase, alpha-L-1, tissue
, tissue alpha-L-fucosidase-like