Literature DB >> 322478

Nature of the mutation in adult beta-galactosidase deficient patients.

J S O'Brien, A G Norden.   

Abstract

Fibroblasts from three chronically affected, beta-galactosidase deficient adults were shown to synthesize nearly normal quantities of immunologically reactive catalytically deficient beta-galactosidase, indicating that they are CRM + structural mutants.

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Year:  1977        PMID： 322478      PMCID： PMC1685254     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  12 in total

1.  I-cell disease: biochemical studies.

Authors:  J G Leroy; M W Ho; M C MacBrinn; K Zielke; J Jacob; J S O'Brien
Journal:  Pediatr Res       Date:  1972-10       Impact factor: 3.756

2.  Letter: Beta-galactosidase deficiency in young adults.

Authors:  D A Wenger; S I Goodman; G G Myers
Journal:  Lancet       Date:  1974-11-30       Impact factor: 79.321

3.  The mechanism of activation of mutant -galactosidase by specific antibodies.

Authors:  F Melchers; W Messer
Journal:  Eur J Biochem       Date:  1973-06

4.  Late infantile systemic lipidosis. Major monosialogangliosidosis. Delineation of two types.

Authors:  D M Derry; J S Fawcett; F Andermann; L S Wolfe
Journal:  Neurology       Date:  1968-04       Impact factor: 9.910

5.  Binding of human liver beta-galactosidases to plant lectins insolubilized on agarose.

Authors:  A G Norden; J S O'Brien
Journal:  Biochem Biophys Res Commun       Date:  1974-01       Impact factor: 3.575

6.  Immunological studies of beta galactosidase in normal human liver and in GM1 gangliosidosis.

Authors:  M Meisler; M C Rattazzi
Journal:  Am J Hum Genet       Date:  1974-11       Impact factor: 11.025

7.  GM1 ganglioside beta-galactosidase. A. Purification and studies of the enzyme from human liver.

Authors:  A G Norden; L L Tennant; J S O'Brien
Journal:  J Biol Chem       Date:  1974-12-25       Impact factor: 5.157

8.  Letter: Angiokeratoma corporis diffusum and lysosomal enzyme deficiency.

Authors:  M C Loonen; L Lugt; C L Franke
Journal:  Lancet       Date:  1974-09-28       Impact factor: 79.321

Review 9.  Molecular genetics of GM1 beta-galactosidase.

Authors:  J S O'Brien
Journal:  Clin Genet       Date:  1975-11       Impact factor: 4.438

10.  Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency.

Authors:  J S O'Brien; E Gugler; A Giedion; U Wiessmann; N Herschkowitz; C Meier; J Leroy
Journal:  Clin Genet       Date:  1976-05       Impact factor: 4.438
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  13 in total

Review 1.  Biochemistry and genetics of gangliosidoses.

Authors:  K Sandhoff; H Christomanou
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

Review 2.  Basic findings and current developments in sphingolipidoses.

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

Review 3.  Sialidosis: a review of human neuraminidase deficiency.

Authors:  J A Lowden; J S O'Brien
Journal:  Am J Hum Genet       Date:  1979-01       Impact factor: 11.025

Review 4.  Glycosphingolipid hydrolases: properties and molecular genetics.

Authors:  M Wan Ho; A G Norden; J A Alhadeff; J S O'Brien
Journal:  Mol Cell Biochem       Date:  1977-10-07       Impact factor: 3.396

5.  The William Allan Memorial Award Lecture: Genetic nosology: three approaches.

Authors:  V A McKusick
Journal:  Am J Hum Genet       Date:  1978-03       Impact factor: 11.025

6.  The lesions of an ovine lysosomal storage disease. Initial characterization.

Authors:  R D Murnane; D J Prieur; A J Ahern-Rindell; S M Parish; L L Collier
Journal:  Am J Pathol       Date:  1989-02       Impact factor: 4.307

7.  The genetic defect in the various types of human beta-galactosidase deficiency.

Authors:  H L Hoeksema; J De Wit; A Westerveld
Journal:  Hum Genet       Date:  1980-02       Impact factor: 4.132

8.  A two-year-old patient with an atypical expression of GM1-beta-galactosidase deficiency: biochemical, immunological, and cell genetic studies.

Authors:  A J Reuser; G Andria; E de Wit-Verbeek; A Hoogeveen; E del Giudice; D Halley
Journal:  Hum Genet       Date:  1979-01-19       Impact factor: 4.132

9.  A case of neuraminidase deficiency associated with a partial beta-galactosidase defect. Clinical, biochemical and radiological studies.

Authors:  S Okada; T Yutaka; T Kato; C Ikehara; H Yabuuchi; M Okawa; M Inui; H Chiyo
Journal:  Eur J Pediatr       Date:  1979-04-03       Impact factor: 3.183

10.  Quantitation of the enzymically deficient cross reacting material in GM1 gangliosidoses.

Authors:  Y Ben-Yoseph; B K Burton; H L Nadler
Journal:  Am J Hum Genet       Date:  1977-11       Impact factor: 11.025
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