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Human Polyclonal GALNS Primary Antibody for EIA, FACS - ABIN952441
Yan, Wu: Descriptively quantitative relationship between mutated N-acetylgalactosamine-6-sulfatase and mucopolysaccharidosis IVA. in Biopolymers 2009
Show all 2 references for ABIN952441
Human Polyclonal GALNS Primary Antibody for FACS, IF - ABIN655593
Bhattacharyya, Kotlo, Shukla, Danziger, Tobacman: Distinct effects of N-acetylgalactosamine-4-sulfatase and galactose-6-sulfatase expression on chondroitin sulfates. in The Journal of biological chemistry 2008
Human Polyclonal GALNS Primary Antibody for ELISA, WB - ABIN238565
Houle, Tom, Mayes, Wagoner, Phillips, Silver: Combining an autologous peripheral nervous system "bridge" and matrix modification by chondroitinase allows robust, functional regeneration beyond a hemisection lesion of the adult rat spinal cord. in The Journal of neuroscience : the official journal of the Society for Neuroscience 2006
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.
A new GALNS intronic lesion was characterized: c.245-11C>G causing m-RNA defects, although identified outside the GT/AG splice pair.
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.
A review of mutations in the GALNS gene associated with Morquio A syndrome.
Molecular analysis of 163 patients with Morquio A identified 99 unique mutations in the GALNS gene believed to negatively impact GALNS protein function.
Here we present 53 mutations including 19 novel mutations in GALNS gene in a cohort of 55 patients
GALNS gene 5 new mutations: p.N177S, p.G290R, p.F306S, p.W520X, p.W403_T404delinsCS in the mucopolysaccharidosis IVA patients in South China
Novel mutations in the GALNS gene associated with mucopolysaccharidosis IVA in Korean patients.
missense mutation in GALNS is associated with a severe form of mucopolysaccharidosis type IVA.
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
This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder.
, N-acetylgalactosamine-6-sulfate sulfatase
, galNAc6S sulfatase
, galactose-6-sulfate sulfatase
, GalNAc6S sulfatase
, galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA)