Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.7.49 (reverse transcriptase)
 31,746 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Loss-of-function mutations in the cystatin B (Cstb) gene cause a neurological disorder known as Unverricht-Lundborg disease (EPM1) in human patients. Mice that lack Cstb provide a mammalian model for EPM1 by displaying progressive ataxia and myoclonic seizures. We analyzed RNAs from brains of Cstb-deficient mice by using modified differential display, oligonucleotide microarray hybridization and quantitative reverse transcriptase polymerase chain reaction to examine the molecular consequences of the lack of Cstb. We identified seven genes that have consistently increased transcript levels in neurological tissues from the knockout mice. These genes are cathepsin S, C1q B-chain of complement (C1qB), beta2-microglobulin, glial fibrillary acidic protein (Gfap), apolipoprotein D, fibronectin 1 and metallothionein II, which are expected to be involved in increased proteolysis, apoptosis and glial activation. The molecular changes in Cstb-deficient mice are consistent with the pathology found in the mouse model and may provide clues towards the identification of therapeutic points of intervention for EPM1 patients.
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PMID:Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes. 1155 22

During kidney development many proteases are involved with the remodeling process of the extracellular matrix (ECM) during nephrogenesis. This study used embryonic kidneys culture, tridimensional cell culture, and reverse transcriptase-polymerase chain reaction (RT-PCR) techniques in order to investigate the expression of cathepsins S (CS) and cathepsin H (CH) during metanephrogenesis and their functional interface with hepatic growth factor (HGF) and nerve growth factor (NGF). Results have shown that cathepsin S has been expressed early than the cathepsin H in the nephrogenesis. NGF antibody in the embryonic kidney cultures, in a dose-dependent mechanism inhibited the CS but not CH genic expression by RT-PCR. The tridimensional cells culture with MDCK and IMCD cells confirmed the interface between HGF and CS and CH once their inhibitors added to the culture, reduced the fancy branching formation induced by this growth factor. In summary, this study suggests that CS and CH are differently expressed during nephrogenesis and also that they are involved with the tubulogenesis probably mediating specific growth factors such as NGF and HGF.
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PMID:Functional interface between cathepsins and growth factors in the kidney development. 1615 3