Literature DB >> 4236721

Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts.

J C Fratantoni, C W Hall, E F Neufeld.   

Abstract

The biochemical defect of cultuired skin fibroblasts from Hurler or Hunter patients (faulty degradation of sulfated mucopolysaccharide, resulting in excessive intracellular accumulation) may be corrected if cells of these two genotypes are mixed with each other or with normal cells. The effect is mediated by substances released into the medium.

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Year:  1968        PMID： 4236721     DOI： 10.1126/science.162.3853.570

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  119 in total

Review 1.  Replacement therapy in the mucopolysaccharidoses.

Authors:  M F Dean
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1978

Review 2.  Gene therapy for the neurological manifestations in lysosomal storage disorders.

Authors:  Seng H Cheng
Journal:  J Lipid Res       Date:  2014-03-29       Impact factor: 5.922

3.  Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome).

Authors:  Jakub Tolar; In-Hyun Park; Lily Xia; Chris J Lees; Brandon Peacock; Beau Webber; Ron T McElmurry; Cindy R Eide; Paul J Orchard; Michael Kyba; Mark J Osborn; Troy C Lund; John E Wagner; George Q Daley; Bruce R Blazar
Journal:  Blood       Date:  2010-10-29       Impact factor: 22.113

4.  A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccharidoses.

Authors:  C A Pennock
Journal:  J Clin Pathol       Date:  1976-02       Impact factor: 3.411

5.  The mucopolysaccharidoses.

Authors:  C A Pennock; I C Barnes
Journal:  J Med Genet       Date:  1976-06       Impact factor: 6.318

6.  Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.

Authors:  H F Willard; I S Mellman; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1978-01       Impact factor: 11.025

7.  Regional assignment of the structural gene for human alpha-L-iduronidase.

Authors:  E H Schuchman; K H Astrin; P Aula; R J Desnick
Journal:  Proc Natl Acad Sci U S A       Date:  1984-02       Impact factor: 11.205

Review 8.  Gene therapy for lysosomal storage diseases (LSDs) in large animal models.

Authors:  Mark Haskins
Journal:  ILAR J       Date:  2009

9.  Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning.

Authors:  Jaap Jan Boelens; Mieke Aldenhoven; Duncan Purtill; Annalisa Ruggeri; Todd Defor; Robert Wynn; Ed Wraith; Marina Cavazzana-Calvo; Attilio Rovelli; Alain Fischer; Jakub Tolar; Vinod K Prasad; Maria Escolar; Eliane Gluckman; Anne O'Meara; Paul J Orchard; Paul Veys; Mary Eapen; Joanne Kurtzberg; Vanderson Rocha
Journal:  Blood       Date:  2013-03-14       Impact factor: 22.113

10.  The mucopolysaccharidoses: inborn errors of glycosaminoglycan catabolism.

Authors:  M Cantz; J Gehler
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132
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