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GALNS
| Symbol: | GALNS | | Name(s): | galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA) | | Type: | protein-coding | | Organism: | Homo sapiens | | Synonyms: | GALNAC6S, GAS, MPS4A | | Links: |
Pubmed,
Entrez Gene,
GeneCards,
Map Viewer.
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Gene Information from Publications |
| Publication Link |
Summary of findings |
| 17876718 |
In mucopolysaccharidosis IVA 'attenuated' mutant enzymes are heterogeneous in molecular phenotypes, including biochemical properties and tertiary structure. |
| 17544310 |
effect of repeated intra-articular injections (IA INJ) of recombinant human acetylgalactosamine-4-sulfatase on degenerative joint disease in an animal model. |
| 15241807 |
Ten novel mutations in GALNS in Italian Mucopolysaccharidosis IVA patients. |
| 16287098 |
26 novel mutations within the GALNS gene are associated with mucopolysaccharidosis IVA. A genotype/phenotype correlation was defined in some mutations. |
| 16378744 |
GALNS mutations in six severe Mucopolysaccharidosis type IVA (MPS IVA) patients from four unrelated Tunisian families. |
| 12721840 |
Mutation 1374delT introduces premature termination of GALNS, causing mucopolysaccharidosis IVA. |
| 11524742 |
6-bp deletion in exon 1 of GALNS gene. |
| 12442278 |
Beside mutations, one previously identified E477 polymorphism and one novel W520 polymorphism were found among Turkish MPS IVA patients. |
Recent Publications on GALNS: |  |
Preimplantation genetic diagnosis of Morquio disease.
OBJECTIVES: Morquio syndrome is an autosomal recessive disease and... | 17th September, 2008
| Department of Pathology and Laboratory Medicine, King Faisal Specialist
| Prenat Diagn. 2008 Oct;28(10):900-3.
DOI Direct Link |
GALNS gene expression profiling in Morquio A patients' fibroblasts.
BACKGROUND: Quantification studies of mutated mRNAs have not been carried... | 20th August, 2008
| Metabolic and Muscular Unit, Clinic of Pediatric Neurology, AOU Meyer,
| Clin Chim Acta. 2008 Nov;397(1-2):72-6. Epub 2008 Jul 25.
DOI Direct Link |
Enzyme replacement therapy in a murine model of Morquio A syndrome.
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder... | 9th August, 2008
| Department of Pediatrics, St Louis University, Doisy Research Center, 1100
| Hum Mol Genet. 2008 Mar 15;17(6):815-24. Epub 2007 Dec 3.
DOI Direct Link |
Distinct effects of N-acetylgalactosamine-4-sulfatase and galactose-6-sulfatase expression on chondroitin sulfates.
The sulfatase enzymes, N-acetylgalactosamine-4-sulfatase (arylsulfatase B... | 29th May, 2008
| Department of Medicine, University of Illinois, Chicago, IL 60612, USA.
| J Biol Chem. 2008 Apr 11;283(15):9523-30. Epub 2008 Feb 18.
DOI Direct Link |
Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.
Mucopolysaccharidosis IVA is an autosomal recessive disease caused by the... | 27th October, 2007
| Department of Pediatrics, Saint Louis University, Pediatric Research
| J Inherit Metab Dis. 2007 Oct;30(5):758-67. Epub 2007 Sep 17.
DOI Direct Link |
→View more research publications. |
GALNS results (if any) from reagent suppliers | 
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