GALNS Antibody

1. Enzyme replacement therapy (ERT) with recombinant human GALNS (elosulfase alfa, Vimizim(R), BioMarin Pharmaceutical Inc., Novato, CA) has recently been approved as a treatment option for Morquio A. Elosulfase alfa enzyme replacement therapy associated with long-term endurance improvements in Morquio A. PMID: 27380995
2. Missense mutation of GALNS is associated with mucopolysaccharidosis type IV A. PMID: 28397226
3. Clinical evaluation and biochemical GALNS enzyme activity determination were carried out for the patients from four unrelated Egyptian families. Sequence analysis revealed four novel mutations; three nonsense mutations (p.Q12X, p.Q220X, p.Y254X) and one missense mutation, p.D40G. All four patients were offspring of consanguineous marriages and were homozygous for the corresponding mutation. PMID: 27825773
4. A new GALNS intronic lesion was characterized: c.245-11C>G causing m-RNA defects, although identified outside the GT/AG splice pair. PMID: 25545067
5. The goals were to analyze and characterize the secondary structure, regions of intrinsic disorder and physicochemical characteristics of three classes of mutations described in the enzyme N-acetylgalactosamine-6-sulfatase. PMID: 25501214
6. A review of mutations in the GALNS gene associated with Morquio A syndrome. PMID: 25137622
7. Molecular analysis of 163 patients with Morquio A identified 99 unique mutations in the GALNS gene believed to negatively impact GALNS protein function. PMID: 24726177
8. 2 unrelated Turkish patients had 2 homozygous known mutations: p.L390X in exon 11 and p.W141R in exon 4. The p L390X mutation was associated with 4 novel polymorphisms in intron 2, intron 5 and intron 6 and a known polymorphism in exon 7. PMID: 24411403
9. Here we present 53 mutations including 19 novel mutations in GALNS gene in a cohort of 55 patients PMID: 23876334
10. GALNS gene 5 new mutations: p.N177S, p.G290R, p.F306S, p.W520X, p.W403_T404delinsCS in the mucopolysaccharidosis IVA patients in South China PMID: 24035930
11. Novel mutations in the GALNS gene associated with mucopolysaccharidosis IVA in Korean patients. PMID: 23401410
12. missense mutation in GALNS is associated with a severe form of mucopolysaccharidosis type IVA. PMID: 23313879
13. Comparison of the structure of GALNS to paralogous sulfatases shows a wide variety of active-site geometries in the family but strict conservation of the catalytic machinery PMID: 22940367
14. Screening of mutations and polymorphisms in GALNS gene provide useful information on genotype/phenotype correlations. PMID: 22078177
15. Mucopolysaccharidosis type IVA or Morquio A syndrome is characterized by the lack of N-acetylgalactosamine-6-sulfate-sulfatase and the accumulation of keratan sulfate and chondroitin-6-sulfate in the lysosomes. PMID: 21251309
16. GALNS mutations are associated with Mucopolysaccharidosis IVA. PMID: 20574428
17. 6-bp deletion in exon 1 of GALNS gene. PMID: 11524742
18. Beside mutations, one previously identified E477 polymorphism and one novel W520 polymorphism were found among Turkish MPS IVA patients. PMID: 12442278
19. Mutation 1374delT introduces premature termination of GALNS, causing mucopolysaccharidosis IVA. PMID: 12721840
20. Ten novel mutations in GALNS in Italian Mucopolysaccharidosis IVA patients. PMID: 15241807
21. 26 novel mutations within the GALNS gene are associated with mucopolysaccharidosis IVA. A genotype/phenotype correlation was defined in some mutations. PMID: 16287098
22. GALNS mutations in six severe Mucopolysaccharidosis type IVA (MPS IVA) patients from four unrelated Tunisian families. PMID: 16378744
23. effect of repeated intra-articular injections (IA INJ) of recombinant human acetylgalactosamine-4-sulfatase on degenerative joint disease in an animal model. PMID: 17544310
24. In mucopolysaccharidosis IVA 'attenuated' mutant enzymes are heterogeneous in molecular phenotypes, including biochemical properties and tertiary structure. PMID: 17876718
25. modification of expression of the lysosomal sulfatases ASB and GALNS regulates the content of CSs. PMID: 18285341
26. This paper focuses on the study of the GALNS gene and mRNAs in two severe forms of Morquio A patients' fibroblasts. PMID: 18710657
27. Results describe the quantitative relationship between the mutant N-acetylgalactosamine-6-sulfatase and the occurrence of mucopolysaccharidosis IVA. PMID: 19373925
28. Deficiency in N-acetylgalactosamine-6-sulfate sulfatase has an impact on the phenotypic properties of chondrocytes, resulting in the formation of cartilage that is more prone to degeneration. PMID: 19394256

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HGNC: 4122

OMIM: 253000

KEGG: hsa:2588

STRING: 9606.ENSP00000268695

UniGene: Hs.271383