Literature DB >> 4202671

Enzymatically inactive red cell carbonic anhydrase B in a family with renal tubular acidosis.

E Shapira, Y Ben-Yoseph, F G Eyal, A Russell.   

Abstract

An inactive mutant form of red cell carbonic anhydrase B is described in three members of a large kindred who manifest infantile renal tubular acidosis and nerve deafness. A combination of enzymatic and immunologic investigations permitted its detection, despite the fact that both antigenic and electrophoretic properties of the mutant were identical to those of the normal form.

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Year:  1974        PMID： 4202671      PMCID： PMC301438          DOI： 10.1172/JCI107559

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


  13 in total

Review 1.  Renal tubular acidosis. Mechanisms, classification and implications.

Authors:  R C Morris
Journal:  N Engl J Med       Date:  1969-12-18       Impact factor: 91.245

2.  Immunologic and kinetic properties of carbonic anhydrases from various tissues.

Authors:  P J Wistrand; S N Rao
Journal:  Biochim Biophys Acta       Date:  1968-01-22

3.  Purification and properties of human erythrocyte carbonic anhydrases.

Authors:  J M Armstrong; D V Myers; J A Verpoorte; J T Edsall
Journal:  J Biol Chem       Date:  1966-11-10       Impact factor: 5.157

4.  Studies on a method of measuring carbonic anhydrase activity.

Authors:  P Hansen; E Magid
Journal:  Scand J Clin Lab Invest       Date:  1966       Impact factor: 1.713

5.  Quantitative determination of human carbonic anhydrase B isozyme.

Authors:  Y Ben-Yoseph; E Shapira; A Russell
Journal:  Isr J Med Sci       Date:  1971-09

6.  A case of bicarbonate-losing renal tubular acidosis with defective carboanhydrase activity.

Authors:  R A Donckerwolcke; G J van Stekelenburg; H A Tiddens
Journal:  Arch Dis Child       Date:  1970-12       Impact factor: 3.791

7.  Human carbonic anhydrases. VI. Levels of isozymes in old and young erythrocytes and in various tissues.

Authors:  S Funakoshi; H F Deutsch
Journal:  J Biol Chem       Date:  1971-02-25       Impact factor: 5.157

8.  Human carbonic anhydrases. 3. Immunochemical studies.

Authors:  S Funakoshi; H F Deutsch
Journal:  J Biol Chem       Date:  1970-06-10       Impact factor: 5.157

9.  Proximal renal tubular acidosis. A defect in bicarbonate reabsorption with normal urinary acidification.

Authors:  J Rodriguez Soriano; H Boichis; H Stark; C M Edelmann
Journal:  Pediatr Res       Date:  1967-03       Impact factor: 3.756

10.  Chemical coupling of peptides and proteins to polysaccharides by means of cyanogen halides.

Authors:  R Axén; J Porath; S Ernback
Journal:  Nature       Date:  1967-06-24       Impact factor: 49.962
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  11 in total

1.  The syndrome of renal tubular acidosis and nerve deafness. Discordant manifestations in dizygotic twin brothers.

Authors:  F Santos; C Rey; S Málaga; L M Rodríguez; G Orejas
Journal:  Pediatr Nephrol       Date:  1991-03       Impact factor: 3.714

2.  Effect of physical exercise on the specific activity of carbonic anhydrase isozyme in human erythrocytes.

Authors:  H Ohno; N Taniguchi; T Kondo; E Takakuwa; K Terayama; T Kawarabayashi
Journal:  Experientia       Date:  1982-07-15

3.  Siblings with renal tubular acidosis and nerve deafness. The first family in Japan.

Authors:  T Anai; J Yamamoto; I Matsuda; N Taniguchi; T Kondo; B Nagai
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

4.  Inactive form of erythrocyte carbonic anhydrase B in patients with primary renal tubular acidosis.

Authors:  T Kondo; N Taniguchi; K Taniguchi; I Matsuda; M Murao
Journal:  J Clin Invest       Date:  1978-09       Impact factor: 14.808

5.  Enhanced biosynthesis of human skin collagenase in fibroblast cultures from recessive dystrophic epidermolysis bullosa.

Authors:  K J Valle; E A Bauer
Journal:  J Clin Invest       Date:  1980-08       Impact factor: 14.808

6.  Human skin collagenase in recessive dystrophic epidermolysis bullosa. Purification of a mutant enzyme from fibroblast cultures.

Authors:  G P Stricklin; H G Welgus; E A Bauer
Journal:  J Clin Invest       Date:  1982-06       Impact factor: 14.808

7.  A polymorphic variant of human erythrocyte carbonic anhydrase I with a widespread distribution in Australian aborigines, CAI Australia-9 (8 Asp leads to Gly): purification, properties, amino acid substitution, and possible physiological significance of the variant enzyme.

Authors:  G L Jones; D C Shaw
Journal:  Biochem Genet       Date:  1982-10       Impact factor: 1.890

8.  Metabolic acidosis in patients receiving anticonvulsants.

Authors:  B Nagai; I Matsuda; T Kondo; N Taniguchi; S Arashima; T Mitsuyama; Y Oka; M Honma
Journal:  Eur J Pediatr       Date:  1979-11       Impact factor: 3.183

9.  Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

Authors:  W S Sly; D Hewett-Emmett; M P Whyte; Y S Yu; R E Tashian
Journal:  Proc Natl Acad Sci U S A       Date:  1983-05       Impact factor: 11.205

10.  Relation between zinc status and hepatic functional reserve in patients with liver disease.

Authors:  H F Goode; J Kelleher; B E Walker
Journal:  Gut       Date:  1990-06       Impact factor: 23.059
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