Literature DB >> 1269176

Mucolipidosis II and III: different residual activity of beta-galactosidase in cultured fibroblasts.

J G Leroy, J S O'Brien.   

Abstract

A biochemical difference is found between the mucolipidoses II and III which may be correlated with their clinical phenotypes. In homogenates of mass-cultured I-cells from patients with MLII (I-cell disease), the residual specific activity of beta-galactosidase is between 3 and 5 times lower than that in the I-cells from patients with MLIII (pseudopolydystrophy). This difference is confirmed in several coverslip culture experiments where conditions of inoculation, propagation, harvest and enzyme assays are rigidly controlled. MLIII cells also hydrolyse the natural substrates asialofetuin-(H)3-galactoside and GM1- (H)3-galactoside more easily. This observation offers support to the hypothesis that beta-galactosidase may play a role in the physiopathology of these mucolipidoses.

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Year:  1976        PMID： 1269176     DOI： 10.1111/j.1399-0004.1976.tb01608.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  9 in total

1.  Temporomandibular joint destruction in mucolipidosis type III necessitating gastrostomy insertion.

Authors:  Zarzuela Zolkipli; Lee Noimark; Maureen A Cleary; Cathy Owens; Ashok Vellodi
Journal:  Eur J Pediatr       Date:  2005-07-22       Impact factor: 3.183

2.  A variant of mucolipidosis. II. Clinical, biochemical and pathological investigations.

Authors:  L Poenaru; L Castelnau; F Tome; J Boue; P Maroteaux
Journal:  Eur J Pediatr       Date:  1988-04       Impact factor: 3.183

3.  Serum hexosaminidase activity in I-cell disease carriers.

Authors:  J Vidgoff; N R Buist
Journal:  Hum Genet       Date:  1977-05-10       Impact factor: 4.132

4.  Defective catabolism of low-density lipoprotein by fibroblasts from patients with I-cell disease.

Authors:  J C Williams; D B Weinstein; A L Miller; D Steinberg
Journal:  Biochem J       Date:  1982-01-15       Impact factor: 3.857

5.  Deficiency of neuraminidase in the sialidoses and the mucolipidoses.

Authors:  W R Den Tandt; J G Leroy
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

6.  Mucolipidosis III is genetically heterogeneous.

Authors:  N K Honey; O T Mueller; L E Little; A L Miller; T B Shows
Journal:  Proc Natl Acad Sci U S A       Date:  1982-12       Impact factor: 11.205

7.  Evidence for the deficiency of beta-glucosidase-activating factor in fibroblasts of patients with I-cell disease.

Authors:  R Varon; W J Kleijer; E J Thompson; A d'Azzo
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

8.  Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system.

Authors:  J J Martin; C Ceuterick
Journal:  J Neurol Neurosurg Psychiatry       Date:  1978-03       Impact factor: 10.154

9.  Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity.

Authors:  M L Reitman; A Varki; S Kornfeld
Journal:  J Clin Invest       Date:  1981-05       Impact factor: 14.808
  9 in total

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