PMID- 10036316
OWN - NLM
STAT- MEDLINE
DCOM- 19990330
LR  - 20190610
IS  - 0006-3002 (Print)
IS  - 0006-3002 (Linking)
VI  - 1453
IP  - 2
DP  - 1999 Feb 24
TI  - Maroteaux-lamy syndrome: five novel mutations and their structural localization.
PG  - 185-92
AB  - Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is an autosomal
      recessive disorder due to the deficiency of the lysosomal enzyme
      N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ASB). Mutation analysis in
      Maroteaux-Lamy syndrome resulted in the identification of approximately 40
      molecular defects underlying a great genetic heterogeneity. Here we report five
      novel mutations in Italian subjects: S65F, P116H, R315Q, Q503X, P531R; each
      defect was confirmed by restriction enzyme or amplification refractory mutation
      system (ARMS) analysis. We also performed a three-dimensional (3-D) structure
      analysis of the alterations identified by us, and of an additional 22 point
      mutations reported by other groups, in an attempt to draw helpful information
      about their possible effects on protein conformation.
FAU - Villani, G R
AU  - Villani GR
AD  - Dipartimento di Biochimica e Biotecnologie Mediche, Facolta di Medicina e
      Chirurgia, Universita di Napoli 'Federico II', Via S. Pansini n 5, 80131, Napoli,
      Italy.
FAU - Balzano, N
AU  - Balzano N
FAU - Vitale, D
AU  - Vitale D
FAU - Saviano, M
AU  - Saviano M
FAU - Pavone, V
AU  - Pavone V
FAU - Di Natale, P
AU  - Di Natale P
LA  - eng
GR  - E.0812/Telethon/Italy
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Netherlands
TA  - Biochim Biophys Acta
JT  - Biochimica et biophysica acta
JID - 0217513
RN  - EC 3.1.6.12 (N-Acetylgalactosamine-4-Sulfatase)
SB  - IM
MH  - Binding Sites
MH  - Child
MH  - Exons
MH  - Humans
MH  - Infant
MH  - Models, Molecular
MH  - Mucopolysaccharidosis VI/*genetics
MH  - N-Acetylgalactosamine-4-Sulfatase/chemistry/*genetics
MH  - *Point Mutation
MH  - Polymorphism, Single-Stranded Conformational
MH  - Protein Folding
EDAT- 1999/02/26 00:00
MHDA- 1999/02/26 00:01
CRDT- 1999/02/26 00:00
PHST- 1999/02/26 00:00 [pubmed]
PHST- 1999/02/26 00:01 [medline]
PHST- 1999/02/26 00:00 [entrez]
AID - S0925-4439(98)00099-4 [pii]
AID - 10.1016/s0925-4439(98)00099-4 [doi]
PST - ppublish
SO  - Biochim Biophys Acta. 1999 Feb 24;1453(2):185-92. doi:
      10.1016/s0925-4439(98)00099-4.