Concepedia

Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects

Sabrina Esposito, Nicola Balzano, Aurora Daniele, G. Villani, Kelly Perkins, Birgit Weber, John J. Hopwood, Paola Di Natale

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2000 · 42 citations · 14 references

DOI

Concepts

References

14

Crystal Structure of Human Arylsulfatase A:  The Aldehyde Function and the Metal Ion at the Active Site Suggest a Novel Mechanism for Sulfate Ester Hydrolysis<sup>,</sup>

G. Lukatela, Karsten Theis, Thorsten Selmer et al. · Biochemistry · 1998 · 323 citations

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A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

Brunella Franco, Germana Meroni, Giancarlo Parenti et al. · Cell · 1995 · 317 citations · Full text

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Structure of a human lysosomal sulfatase

Charles S. Bond, Peter R Clements, S. Ashby et al. · Structure · 1997 · 300 citations · Full text

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Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

J. J. P. van de Kamp, M. F. Niermeijer, Kurt Von Figura et al. · Clinical Genetics · 1981 · 218 citations

, , +16

Morquio disease: Isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase

Shunji Tomatsu, Seiji Fukuda, Michiya Masue et al. · Biochemical and Biophysical Research Communications · 1991 · 159 citations

, , +8