Literature DB >> 10896298

Upregulation of respiratory chain enzymes in guanidinoacetate methyltransferase deficiency.

A M Das1, K Ullrich, D Isbrandt.   

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Year:  2000        PMID: 10896298     DOI: 10.1023/a:1005643617251

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


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  7 in total

1.  Tightly bound nucleotides of the energy-transducing ATPase of chloroplasts and their role in photophosphorylation.

Authors:  D A Harris; E D Slater
Journal:  Biochim Biophys Acta       Date:  1975-05-15

2.  Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.

Authors:  S Stöckler; D Isbrandt; F Hanefeld; B Schmidt; K von Figura
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

3.  The calcium-binding ATPase inhibitor protein from bovine heart mitochondria. Purification and properties.

Authors:  E W Yamada; N J Huzel
Journal:  J Biol Chem       Date:  1988-08-15       Impact factor: 5.157

4.  The binding and release of the inhibitor protein are governed independently by ATP and membrane potential in ox-heart submitochondrial vesicles.

Authors:  G Lippe; M C Sorgato; D A Harris
Journal:  Biochim Biophys Acta       Date:  1988-03-30

5.  Anomalies of mitochondrial ATP synthase regulation in four different types of neuronal ceroid lipofuscinosis.

Authors:  A M Das; R D Jolly; A Kohlschütter
Journal:  Mol Genet Metab       Date:  1999-04       Impact factor: 4.797

6.  Differential effects of creatine depletion on the regulation of enzyme activities and on creatine-stimulated mitochondrial respiration in skeletal muscle, heart, and brain.

Authors:  E O'Gorman; G Beutner; T Wallimann; D Brdiczka
Journal:  Biochim Biophys Acta       Date:  1996-09-12

7.  ATP synthesis kinetic properties of mitochondria isolated from the rat extensor digitorum longus muscle depleted of creatine with beta-guanidinopropionic acid.

Authors:  D Freyssenet; P Berthon; A Geyssant; C Denis
Journal:  Biochim Biophys Acta       Date:  1994-07-29
  7 in total
  3 in total

1.  X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype.

Authors:  I A Anselm; I M Anselm; F S Alkuraya; G S Salomons; C Jakobs; A B Fulton; M Mazumdar; M Rivkin; R Frye; T Young Poussaint; D Marsden
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

2.  Presence of normal creatine in the muscle of a patient with a mutation in the creatine transporter: a case study.

Authors:  Gail J Pyne-Geithman; Ton J deGrauw; Kim M Cecil; Gail Chuck; Melissa A Lyons; Yukisato Ishida; Joseph F Clark
Journal:  Mol Cell Biochem       Date:  2004-07       Impact factor: 3.396

3.  Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake.

Authors:  C I Nabuurs; C U Choe; A Veltien; H E Kan; L J C van Loon; R J T Rodenburg; J Matschke; B Wieringa; G J Kemp; D Isbrandt; A Heerschap
Journal:  J Physiol       Date:  2012-11-05       Impact factor: 5.182

  3 in total

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