Mitochondrial trifunctional protein defects: Clinical implications and therapeutic approaches☆
نویسندگان
چکیده
منابع مشابه
[Mitochondrial trifunctional protein deficiency].
We examined the enzyme protein and biosynthesis of human trifunctional protein harboring enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase activity in cultured skin fibroblasts from two patients with longchain 3-hydroxyacyl-CoA dehydrogenase deficiency. The following results were obtained. (a) In cells from patient 1, immunoblot analysis and pulse-chase experimen...
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ژورنال
عنوان ژورنال: Advanced Drug Delivery Reviews
سال: 2008
ISSN: 0169-409X
DOI: 10.1016/j.addr.2008.04.014