Literature DB >> 2128891

The mucopolysaccharidoses. Diagnosis, molecular genetics and treatment.

J J Hopwood1, C P Morris.   

Abstract

Mesh：

Year:  1990        PMID： 2128891

Source DB:  PubMed          Journal:  Mol Biol Med        ISSN： 0735-1313


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  57 in total

1.  Processing of normal lysosomal and mutant N-acetylgalactosamine 4-sulphatase: BiP (immunoglobulin heavy-chain binding protein) may interact with critical protein contact sites.

Authors:  T M Bradford; M J Gething; R Davey; J J Hopwood; D A Brooks
Journal:  Biochem J       Date:  1999-07-01       Impact factor: 3.857

2.  Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly.

Authors:  A Hinek; S E Wilson
Journal:  Am J Pathol       Date:  2000-03       Impact factor: 4.307

Review 3.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

4.  Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differences.

Authors:  S Tomatsu; S Fukuda; A Cooper; J E Wraith; A Uchiyama; T Hori; Y Nakashima; N Yamada; K Sukegawa; N Kondo
Journal:  Hum Genet       Date:  1995-04       Impact factor: 4.132

Review 5.  Review: the immunochemical analysis of enzyme from mucopolysaccharidoses patients.

Authors:  D A Brooks
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

6.  Reprogramming erythroid cells for lysosomal enzyme production leads to visceral and CNS cross-correction in mice with Hurler syndrome.

Authors:  Daren Wang; Wei Zhang; Theodosia A Kalfa; Gregory Grabowski; Stella Davies; Punam Malik; Dao Pan
Journal:  Proc Natl Acad Sci U S A       Date:  2009-11-10       Impact factor: 11.205

7.  Human acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase. Kinetic characterization and mechanistic interpretation.

Authors:  P J Meikle; A M Whittle; J J Hopwood
Journal:  Biochem J       Date:  1995-05-15       Impact factor: 3.857

8.  Human glucosamine-6-sulphatase deficiency. Diagnostic enzymology towards heparin-derived trisaccharide substrates.

Authors:  C Freeman; J J Hopwood
Journal:  Biochem J       Date:  1992-03-01       Impact factor: 3.857

9.  Diagnosis of mucopolysaccharidoses: how to avoid false positives and false negatives.

Authors:  K Mahalingam; S Janani; S Priya; E M Elango; R Maya Sundari
Journal:  Indian J Pediatr       Date:  2004-01       Impact factor: 1.967

10.  Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI.

Authors:  Alessandra Tessitore; Marinella Pirozzi; Alberto Auricchio
Journal:  Pathogenetics       Date:  2009-06-16
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