myotonic dystrophy/glutathione

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Imbalanced oxidant and antioxidant ratio in myotonic dystrophy type 1.

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Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy affecting adults and is due to trinucleotide sequence (CTG) in the 3' UTR region of DMPK gene located at 19q13.3 chromosome. The pathogenic mechanisms of multisystemic involvement of DM1 are still unclear. The increased

Cloning and chromosomal location of a novel member of the myotonic dystrophy family of protein kinases.

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We have cloned a novel serine/threonine protein kinase (PK428) which is highly related (65%) within the kinase domain to the myotonic dystrophy protein kinase (DM-PK), as well as the cyclic AMP-dependent protein kinase (33%). Northern blots demonstrate that PK428 mRNA is distributed widely among

Redox imbalance in peripheral blood of type 1 myotonic dystrophy patients.

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OBJECTIVE The aim of our study was to determine if redox imbalance caused by the activities of antioxidant enzymes existed in erythrocytes of type 1 myotonic dystrophy (DM1) patients. METHODS The activities of erythrocyte superoxide dismutase, catalase, glutathione peroxidase, and glutathione

Cataract and gamma-glutamyl cycle in myotonic dystrophy.

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Gamma-Glutamyl transpeptidase (gamma-GT) may be responsible for the rapid catabolism and low levels of lenticular glutathione often associated with cataract formation. Elevated levels of serum gamma-GT in patients with myotonic dystrophy suggest that since the defect could be present in all tissues

Antioxidant imbalance in the erythrocytes of Myotonic dystrophy Type 1 patients.

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The most common form of muscular dystrophy is known as Myotonic dystrophy Type 1 (DM1) in adults. It was aimed to investigate the relationship between antioxidant imbalance and diaphragm thickness with pulmonary function test results in peripheral blood of Myotonic Dystrophy Type 1 patients. In the

Vesicles with transport capability isolated from cultured fibroblasts.

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Plasmalemmas from cultured human skin fibroblasts, isolated by a simple and reproducible method, can be converted to vesicles which are capable of active transport of aminoacid when glutathione is included within the vesicles. In the isolation, the plasmalemmas are stabilized with a Ricinus lectin,

Human genes containing polymorphic trinucleotide repeats.

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Expansions of trinucleotide repeats within gene transcripts are responsible for fragile X syndrome, myotonic dystrophy and spinal and bulbar muscular atrophy. To identify other human genes with similar features as candidates for triplet repeat expansion mutations, we screened human cDNA libraries

Swedish views on selenium.

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For a long time selenium was known only for its toxic characteristics. During the last few decades selenium deficiency has been recognized as an important agricultural problem in Sweden. On average, grains and pastures only contain one tenth of the amount of selenium considered necessary to avoid

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