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)

Recently, bi-allelic mutations in the gene coding for the bi-functional enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE/MNK), symbol GNE or GLCNE (MIM: 603824), were associated with the recessively inherited phenotype of IBM2 (MIM: 600737). All patients tested so far have bi-allelic missense mutation(s) of epimerase and/or kinase domains of GNE gene, which clearly explains the recessive inheritance pattern of this phenotype. Single allelic mutations of codons 263-266 of GNE have been implicated as the cause of French type sialuria (MIM: 269921). The dominantly inherited French type sialuria seems to result from defective allosteric feedback inhibitory regulation of GNE/MNK by cytidine monophosphate-N-acetylneuraminic acid (CMP-NANA), resulting in overproduction of cytosolic N-acetylneuraminic acid, and massive urinary excretion of free sialic acid. Because GNE is relatively weakly expressed in skeletal muscle cells, and involvement of other organs are not clinically evident in patients affected with IBM2, it is likely that the missense mutation(s) found in these patients cause a partial reduction of the efficiency of either the epimerase or the kinase activity of this enzyme. Therapeutic dietary modifications are recommended including reduction of ethanol consumption, avoidance of excess selenium, copper, and zinc, and dietary promotion of magnesium (Mg(2+)), which is an essential co-factor for this enzyme.
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PMID:Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review. 1245 Jul 72

Two new neolignans, patrineolignan A (1) and patrineolignan B (2), together with seven known lignans, were isolated from the 90 % aqueous EtOH extract of the roots of Patrinia scabra. Their structures were elucidated on the basis of spectroscopic data (HRESIMS, IR, 1D and 2D NMR) and comparison with literature data. The two new neolignans were evaluated in vitro for cytotoxic properties against human cervical carcinoma HeLa cell line and gastric carcinoma MNK-45 cell line using the microculture tetrazolium assay, and both 1 and 2 exhibited strongly cytotoxic activity against the two tumor cell lines.
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PMID:Two new neolignans from Patrinia scabra with potent cytotoxic activity against HeLa and MNK-45 cells. 2373 5