Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/7038
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Type: Journal article
Title: Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant a-N-acetylglocosaminidase and relationship with Sanfilippo phenotype in an attenuated patient
Author: Yogalingam, G.
Weber, B.
Meehan, J.
Rogers, J.
Hopwood, J.
Citation: BBA: Molecular Basis of Disease, 2000; 1502(3):415-425
Publisher: Elsevier Science BV
Issue Date: 2000
ISSN: 0925-4439
1878-2434
Abstract: Mucopolysaccharidosis type IIIB (MPS-IIB) is a lysosomal storage disorder characterised by the defective degradation of heparan sulfate due to a deficiency of alpha-N-acetylglucosaminidase (NAG). The clinical severity of MPS-IIIB ranges from an attenuated to severely affected Sanfilippo phenotype. This paper describes the expression and characterisation of wild-type recombinant NAG and the molecular characterisation of a previously identified R297X/F48L compound heterozygous MPS-IIIB patient with attenuated Sanfilippo syndrome. We have previously shown R297X to be the most common mutation in a cohort of Dutch and Australian patients, occurring at a frequency of approximately 12.5%. To date F48L has only been described in the proband. To determine the contribution of each mutation to the overall clinical phenotype of the patient, both mutant alleles were engineered into the wild-type NAG cDNA and expressed in Chinese hamster ovary cells. The wild-type NAG and F48L mutant alleles were also retrovirally expressed in MPS-IIIB skin fibroblasts. Residual NAG activity and the stability and maturation of immunoprecipitated NAG were determined for wild-type NAG and mutant NAG. The combined biochemical phenotypes of the two NAG mutant alleles demonstrated a good correspondence with the observed attenuated Sanfilippo phenotype of the patient.
Keywords: CHO Cells
Fibroblasts
Animals
Humans
Retroviridae
Mucopolysaccharidosis III
Acetylglucosaminidase
Recombinant Proteins
Transduction, Genetic
Gene Expression Regulation, Enzymologic
Mutagenesis
Heterozygote
Phenotype
Adult
Cricetinae
Male
Genetic Therapy
DOI: 10.1016/S0925-4439(00)00066-1
Appears in Collections:Aurora harvest 5
Paediatrics publications

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