Literature DB >> 14339001

PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS.

S TARUI, G OKUNO, Y IKURA, T TANAKA, M SUDA, M NISHIKAWA.   

Abstract

Keywords:  ERYTHROCYTES; EXERTION; GENETICS, HUMAN; GLYCOGENOSIS; GLYCOLYSIS; HOMOGENATES; LACTATES; MUSCLES; PHOSPHOFRUCTOKINASE

Mesh：

Substances：

Year:  1965        PMID： 14339001     DOI： 10.1016/0006-291x(65)90156-7

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN： 0006-291X            Impact factor:   3.575


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  67 in total

1.  Hereditary hemolytic anemia with erythrocyte phosphofructokinase deficiency: studies of some properties of erythrocyte and muscle enzyme.

Authors:  J Etiemble; A Kahn; P Boivin; J F Bernard; M Goudemand
Journal:  Hum Genet       Date:  1976-01-28       Impact factor: 4.132

Review 2.  Advances in hereditary red cell enzyme anomalies.

Authors:  A Kahn; J C Kaplan; J C Dreyfus
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

Review 3.  Myopathies Related to Glycogen Metabolism Disorders.

Authors:  Mark A Tarnopolsky
Journal:  Neurotherapeutics       Date:  2018-10       Impact factor: 7.620

4.  Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.

Authors:  R C Nichols; O Rudolphi; B Ek; R Exelbert; P H Plotz; N Raben
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

5.  Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency.

Authors:  B Lederer; F Van Hoof; G Van den Berghe; H Hers
Journal:  Biochem J       Date:  1975-04       Impact factor: 3.857

6.  Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.

Authors:  O Vasconcelos; K Sivakumar; M C Dalakas; M Quezado; J Nagle; M Leon-Monzon; M Dubnick; D C Gajdusek; L G Goldfarb
Journal:  Proc Natl Acad Sci U S A       Date:  1995-10-24       Impact factor: 11.205

7.  Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.

Authors:  J B Sherman; N Raben; C Nicastri; Z Argov; H Nakajima; E M Adams; C M Eng; T M Cowan; P H Plotz
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

Review 8.  Inborn errors of energy metabolism associated with myopathies.

Authors:  Anibh M Das; Ulrike Steuerwald; Sabine Illsinger
Journal:  J Biomed Biotechnol       Date:  2010-05-26

9.  Transcriptomic analysis of dystrophin RNAi knockdown reveals a central role for dystrophin in muscle differentiation and contractile apparatus organization.

Authors:  Mohammad M Ghahramani Seno; Capucine Trollet; Takis Athanasopoulos; Ian R Graham; Pingzhao Hu; George Dickson
Journal:  BMC Genomics       Date:  2010-06-01       Impact factor: 3.969

10.  Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis.

Authors:  Miguel García; Anna Pujol; Albert Ruzo; Efrén Riu; Jesús Ruberte; Anna Arbós; Anna Serafín; Beatriz Albella; Juan Emilio Felíu; Fátima Bosch
Journal:  PLoS Genet       Date:  2009-08-21       Impact factor: 5.917
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