Literature DB >> 6441861

beta-Mannosidase in human leukocytes and fibroblasts.

R S Panday, O P van Diggelen, W J Kleijer, M F Niermeijer.   

Abstract

In human leukocytes and fibroblasts beta-mannosidase activity has a unimodal pH optimum (4.0-4.5). Markedly reduced activity is found in I-cell disease. Normal activities in human fibroblasts are ten times higher than in the goat, in which species a deficiency disease has been described.

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Year:  1984        PMID： 6441861     DOI： 10.1007/bf01805598

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  9 in total

1.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

2.  Changes in the carbohydrate metabolism of mitogenically stimulated human peripheral lymphocytes. I. Stimulation by phytohaemagglutinin.

Authors:  D Roos; J A Loos
Journal:  Biochim Biophys Acta       Date:  1970-12-29

3.  Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues.

Authors:  A Hasilik; E F Neufeld
Journal:  J Biol Chem       Date:  1980-05-25       Impact factor: 5.157

4.  Beta-mannosidosis: prenatal biochemical and morphological characteristics.

Authors:  M Z Jones; E J Rathke; K Cavanagh; L W Hancock
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

5.  Evidence for two distinct forms of mammalian beta-mannosidase.

Authors:  G Dawson
Journal:  J Biol Chem       Date:  1982-04-10       Impact factor: 5.157

6.  Structural analysis of the major caprine beta-mannosidosis urinary oligosaccharides.

Authors:  F Matsuura; M Z Jones; S E Frazier
Journal:  Biochim Biophys Acta       Date:  1983-08-23

7.  Caprine beta-mannosidosis: clinical and pathological features.

Authors:  M Z Jones; J G Cunningham; A W Dade; D M Alessi; U V Mostosky; J R Vorro; J T Benitez; K L Lovell
Journal:  J Neuropathol Exp Neurol       Date:  1983-05       Impact factor: 3.685

8.  Caprine oligosaccharide storage disease. Accumulation of beta-mannosyl (1 goes to 4) beta-N-acetylglucosaminyl (1 goes to 4) beta-N-acetylglucosamine in brain.

Authors:  M Z Jones; R A Laine
Journal:  J Biol Chem       Date:  1981-05-25       Impact factor: 5.157

9.  Caprine beta-mannosidosis. Inherited deficiency of beta-D-mannosidase.

Authors:  M Z Jones; G Dawson
Journal:  J Biol Chem       Date:  1981-05-25       Impact factor: 5.157
  9 in total
  11 in total

1.  G(M2)-ganglioside metabolism in situ in mucolipidosis IV fibroblasts.

Authors:  S Raghavan; E Leshinsky; E H Kolodny
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

2.  Beta-mannosidosis and ethanolaminuria in a female patient.

Authors:  H Wijburg; J de Jong; R Wevers; J Bakkeren; F Trijbels; R Sengers
Journal:  Eur J Pediatr       Date:  1992-04       Impact factor: 3.183

3.  Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.

Authors:  W J Kleijer; P Hu; R Thoomes; M Boer; J G Huijmans; W Blom; O P Van Diggelen; E Seemanova; M Macek
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  Beta-mannosidosis in two brothers with hearing loss.

Authors:  L Dorland; M Duran; F E Hoefnagels; J N Breg; H Fabery de Jonge; K Cransberg; F J van Sprang; O P van Diggelen
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

5.  Alpha- and beta-mannosidoses.

Authors:  A Cooper; C E Hatton; M Thornley; I B Sardharwalla
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

6.  Complementation studies in human and caprine beta-mannosidosis.

Authors:  P Hu; D A Wenger; O P van Diggelen; W J Kleijer
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

7.  Acid beta-mannosidase of human plasma: influence of age and sex on enzyme activity.

Authors:  A Cooper; C Hatton; I B Sardharwalla
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

8.  Human beta-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine.

Authors:  A Cooper; C Hatton; M Thornley; I B Sardharwalla
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

9.  Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus.

Authors:  Ping Yu; Yun Cui; Wanshi Cai; Honghu Wu; Xiaoqiang Xiao; Qianzhi Shao; Liang Ma; Sen Guo; Nana Wu; Zi-Bing Jin; Yongjin Wang; Tao Cai; Zhong Sheng Sun; Jia Qu
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

10.  β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA.

Authors:  Maria Blomqvist; Marie Falkenberg Smeland; Julia Lindgren; Per Sikora; Hilde Monica Frostad Riise Stensland; Jorge Asin-Cayuela
Journal:  Cold Spring Harb Mol Case Stud       Date:  2019-06-03
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