Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.5.1.18 (glutathione S-transferase)
 22,582 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

SIX5 (previously known as myotonic dystrophy associated homeodomain protein - DMAHP ) is a member of the SIX [ sine oculis homeobox (Drosophila ) homologue ] gene family which encodes proteins containing a SIX domain adjacent to a homeo-domain. To investigate the DNA binding specificities of these two domains in SIX5, they were expressed as GST fusion proteins, both separately and together. Affinity purified recombinant proteins and cell lysates from bacteria expressing the recombinant proteins were used in gel retardation assays with double stranded oligonucleotides representing putative DNA binding sites. The putative sites included two in the promoter region of DMPK (dystrophia myotonica protein kinase ) and the previously characterised murine Six4 DNA binding site in the Na(+)/K(+) ATPase alpha 1 subunit gene ( ATP1A1 ) regulatory element (ARE). None of the recombinant proteins showed any affinity for the two putative sites in DMPK. However, the two recombinant proteins containing the homeodomain both formed at least one specific complex with the ARE. The recombinant protein containing both domains formed a second specific complex with the ARE, assumed to be a dimer complex. Finally, a whole genome PCR-based screen was used to identify genomic DNA sequences to which SIX5 binds, as an initial stage in the identification of genes regulated by SIX5.
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PMID:Functional analysis of the homeodomain protein SIX5. 1075 85

The muscleblind-like (MBNL) protein family is thought to be involved in the molecular mechanism of myotonic dystrophy (DM). Although it has been shown to have splicing activity, a broader function in cellular RNA metabolism has been implicated. In this study, we attempted to find the binding proteins of MBNL1 in order to elucidate its physiological function. First, we performed a GST pull-down assay using GST-MBNL1-6xHis as bait. Several proteins were identified, including YB-1, a multifunctional DNA/RNA-binding protein, and DDX1, a DEAD box RNA helicase. MBNL1 formed an RNP complex with YB-1 and DDX1 in binding assays. YB-1 also showed a weak but significant effect on alpha-actinin splice site selection. Interestingly, in response to stress, MBNL1 moved to cytoplasmic stress granules, where it colocalized with YB-1, which was previously reported to be a component of stress granules. We found that DDX1 also colocalized with MBNL1 at stress granules. These results provide new insight into the dynamics of MBNL1 in response to stress, and they suggest a role for MBNL1 in mRNA metabolism in the cytoplasm.
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PMID:MBNL1 associates with YB-1 in cytoplasmic stress granules. 1833 41

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 prospective study, 33 DM1 and 32 healthy control groups were taken after the ethics committee decision (2018-10529). Antioxidant defence system enzymes superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPX), glutathione reductase (GR), glutathione S-transferase (GST) and thiobarbituric acid reactive species (TBARS) levels were studied in blood samples. Also, muscular strength (MRC score), creatine kinase (CK) and diaphragm thicknesses were measured, and pulmonary function tests were performed. Among the studied parameters, TBARS levels and GPX, GR and GST activities in erythrocytes of DM1 patients showed a significant decrease in the range of 29-45% compared to the control group. MRC score, diaphragm thickness and inspiratory function test results at the end of inspiration and expiration were found lower though CK levels were higher in DM1 group. In the patient group, a positive correlation was found between antioxidant parameters (TBARS, CAT and GST) with diaphragm thicknesses and pulmonary function test though GPX showed a negative correlation with them. It was emphasized that the data obtained shows the harmful/pathogenic role of oxidative stress caused by free radicals in DM1, and also provide useful data for the treatment and processes of this disease.
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PMID:Antioxidant imbalance in the erythrocytes of Myotonic dystrophy Type 1 patients. 3187 Jun 60