974 resultados para Cinnamoyl-CoA Reductase (CCR)


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J Biol Inorg Chem (2011) 16:183–194 DOI 10.1007/s00775-011-0753-3

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J Biol Inorg Chem (2010) 15:967–976 DOI 10.1007/s00775-010-0658-6

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Protein Sci. 2009 Mar;18(3):619-28. doi: 10.1002/pro.69.

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J Biol Inorg Chem (2008) 13:1321–1333 DOI 10.1007/s00775-008-0416-1

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J Biol Inorg Chem. 2008 Jun;13(5):737-53. doi: 10.1007/s00775-008-0359-6

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J Biol Inorg Chem (2006) 11: 609–616 DOI 10.1007/s00775-006-0110-0

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J Biol Inorg Chem (2006) 11: 548–558 DOI 10.1007/s00775-006-0104-y

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Eur. J. Biochem. 270, 3904–3915 (2003) doi:10.1046/j.1432-1033.2003.03772.x

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J. Am. Chem. Soc., 2003, 125 (51), pp 15708–15709 DOI: 10.1021/ja038344n

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Descreve-se um caso fatal de deficiência em 3-hidroxi-acil-CoA desidrogenase de cadeia longa (LCHAD) diagnosticado numa criança de 8 meses de idade, segunda filha de um casal jovem, saudável e consanguíneo. Os primeiros sintomas manifestaram-se aos 6,5 meses de idade ao entrar em coma hipoglicémico não cetótico do qual recupera após infusão i.v. de glucose. Detectou-se hepatomegália e posteriormente cardiomegália. A presença de acidúria 3-hidroxi-dicarboxílica foi confirmada após teste de jejum prolongado de 13th e o estudo enzimático efectuado em cultura de fibroblastos de biópsia de pele confirmou o déficit em LCHAD.

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The authors evaluated the isoniazid acetylating phenotype and measured hematocrit, hemoglobin, glucose-6-phosphate dehydrogenase and glutathione reductase activities plus serum sulfadoxin levels in 39 patients with paracoccidioidomycosis (33 males and 6 females) aged 17 to 58 years. Twenty one (53.84%) of the patients presented a slow acetylatingphenotype and 18(46.16%) a fast acetylating phenotype. Glucose-6-phosphate- dehydrogenase (G6PD) acti vity was decreased in 5(23.80%) slow acetylators and in 4(22.22%) fast acetylators. Glutathione reductase activity was decreased in 14 (66.66%) slow acetylators and in 12 (66.66%) fast acetylators. Serum levels of free and total sulfadoxin Were higher in slow acetylator (p < 0.02). Analysis of the resultspermitted us to conclude that serum sulfadoxin levels are related to the acetylatorphenotype. Furthermore, sulfadoxin levels were always above 50 µg/ml, a value considered therapeutic. Glutathione reductase deficiency observed in 66% of patients may be related to the intestinal malabsorption of nutrients, among them riboflavin, a FAD precursor vitamin, inpatients with paracoceidioidomycosis.

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Bone is an androgen-dependent tissue, but it is not clear whether the androgen action in bone depends on testosterone or on dihydrotestosterone. Patients with 5alpha-reductase 2 deficiency present normal levels of testosterone and low levels of dihydrotestosterone, providing an in vivo human model for the analysis of the effect of testosterone on bone. OBJECTIVE: To analyze bone mineral density in 4 adult patients with male pseudohermaphroditism due to 5alpha-reductase 2 deficiency. RESULTS: Three patients presented normal bone mineral density of the lumbar column (L1-L4) and femur neck, and the other patient presented a slight osteopenia in the lumbar column. CONCLUSION: Patients with dihydrotestosterone deficiency present normal bone mineral density, suggesting that dihydrotestosterone is not the main androgen acting in bone.

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Dissertação de mestrado em Bioinformática