Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B.

Wicker, G.; Prill, V.; Brooks, Doug A.; Gibson, G. Edward; Hopwood, John J.; Figura, Kurt Von; Peters, Christoph

doi:10.1016/s0021-9258(18)54649-4

Cited by 53 publications

(1 citation statement)

References 27 publications

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“…Sixteen single site mutations in 4-S have been identified in Maroteaux-Lamy syndrome patients: T92M, R95Q, C117R, G137V, G144R, R152W, R160Q, C192R, Y210C, L236P, L321P, H393P, C405Y, L498P, C521Y and ter534Q (using the single letter amino acid code; ter denotes a termination codon) [25][26][27][28][29]. Of these mutations, only R95Q is in the active site and it has been shown virtually to eliminate 4-S activity [25].…”

Section: Mutations Of 4-s In Maroteaux-lamy Patientsmentioning

confidence: 99%

Structure of a human lysosomal sulfatase

et al. 1997

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. The structure of N-acetylgalactosamine-4-sulfatase reveals that residues conserved amongst the sulfatase family are involved in stabilizing the calcium ion and the sulfate ester in the active site. This suggests an archetypal fold for the family of sulfatases. A catalytic role is proposed for the post-translationally modified highly conserved cysteine residue. Despite a lack of any previously detectable sequence similarity to any protein of known structure, the large sulfatase domain that contains the active site closely resembles that of alkaline phosphatase: the calcium ion in sulfatase superposes on one of the zinc ions in alkaline phosphatase and the sulfate ester of Cys91 superposes on the phosphate ion found in the active site of alkaline phosphatase.

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Section: Mutations Of 4-s In Maroteaux-lamy Patientsmentioning

confidence: 99%

Structure of a human lysosomal sulfatase

et al. 1997

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Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome

Isbrandt¹,

Hopwood²,

Figura³

et al. 1996

Hum. Mutat.

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Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis

1998

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Mucopolysaccharidosis type VI (MPS VI) or Maroteaux‐Lamy syndrome, is a autosomal recessive disorder, due to the deficiency of the lysosomal enzyme N‐acetylgalactosamine‐4‐sulfatase (arylsulfatase B, ASB: EC 3.1.6.12). Three classical forms of the disease have been differentiated: severe, intermediate, mild. Mutational analysis of the ASB gene resulted in the identification of 30 ASB mutant alleles, each of which was found to be unique among unrelated patients, demonstrating a broad molecular heterogeneity of the disease. In this communication we present two novel mutant alleles in two severely affected subjects. Both alterations, the missense mutation G302R and the nonsense Q456X, were found in homozygosity and were confirmed by amplification refractory mutation system (ARMS) or restriction analysis. The missense G302R mutation concerns an amino acid which may be of special importance to the polypeptide, since 302 position is completely conserved in all the eukaryotic sulfatases aligned so far; the nonsense mutation Q456X leads to the translation of a putative mutant ASB protein lacking the last 78 amino acids with a loss of the 8 kD mature polypeptide, one of the two peptides generated by intralysosomal proteolytic processing of the 64 kD precursor. Hum Mutat 11:410, 1998. © 1998 Wiley‐Liss, Inc.

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Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B.

Cited by 53 publications

References 27 publications

Structure of a human lysosomal sulfatase

Structure of a human lysosomal sulfatase

Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome

Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis

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