Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022716 (Menkes)
 1,057 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The wet weights, contents of DNA, RNA and protein and 2', 3'-cyclic nucleotide 3'-phosphodiesterase (CNP) activities were examined in the cerebrum, brain stem and cerebellum from macular mutant mouse, as a model animal for Menkes' kinky hair disease (MKHD). The DNA, RNA and protein contents in the cerebellum from macular hemizygous males (Ml/y) were affected to a much greater extent than those in the cerebrum and the brain stem. This suggests that the main affected part of the brain in Ml/y mouse is the cerebellum. CNP activities in the Ml/y mouse showed a significant decrease in every part of the brain after day 10. This finding may coincide with the changes in myelination in human MKHD.
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PMID:Biochemical study on the brain of the macular mutant mouse as a model of Menkes' kinky hair disease. 245 26