Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The response of the membrane-bound enzyme AChE to changes in temperatures was investigated to test the applicability of the "generalized membrane defect" hypothesis proposed for human myotonic and Duchenne muscular dystrophies to the two forms of muscular dystrophy expressed in mice. For intact platelets from homozygous normal and dystrophic mice of both strains, a break (Tc) occurred in the Arrhenius plot of AChE activity at approximately 22 C. Solubilization of membrane-bound AChE by Triton X-100 produced a nonlinear Arrhenius plot over the temperature range (7.7 C to 37 C) in normal and dystrophic mice of both strains. However, in the presence of phospholipase A2 + C and Triton X-100, a linear Arrhenius plot was produced indicating that the membrane-bound enzyme is normally modulated by a bulk lipid domain as well as by a tightly bound (immobilized) phospholipid domain. The temperature response of platelet AChE from normal and dystrophic mice of both strains was not significantly different. These results showing normal temperature kinetics of AChE do not lend support to the theory of a membrane defect in the platelets of dystrophic mice.
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PMID:Evidence against a generalized membrane defect in dystrophic mice platelets. 712 7

We have studied the effect of muscular dystrophy by merosin deficiency on mouse thymus acetyl- (AChE) and butyrylcholinesterase (BuChE). The organ contains AChE and BuChE activities. Merosin deficiency causes an important decrease (46%) in AChE specific activity. Thymus produces dimers, monomers and tetramers of AChE, and the three kinds of AChE mRNAs. The drop in AChE activity in dystrophic animals could affect the amount of ACh reaching cholinergic receptors in cells of lymphoid organs.
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PMID:Muscular dystrophy with laminin deficiency decreases acetylcholinesterase activity in thymus of dystrophic Lama2dy mice. 1642 80