کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8940818 | 1644846 | 2018 | 7 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
The role of ClpX in erythropoietic protoporphyria
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
هماتولوژی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: The role of ClpX in erythropoietic protoporphyria The role of ClpX in erythropoietic protoporphyria](/preview/png/8940818.png)
چکیده انگلیسی
Hemoglobin is an essential biological component of human physiology and its production in red blood cells relies upon proper biosynthesis of heme and globin protein. Disruption in the synthesis of these precursors accounts for a number of human blood disorders found in patients. Mutations in genes encoding heme biosynthesis enzymes are associated with a broad class of metabolic disorders called porphyrias. In particular, one subtype - erythropoietic protoporphyria - is caused by the accumulation of protoporphyrin IX. Erythropoietic protoporphyria patients suffer from photosensitivity and a higher risk of liver failure, which is the principle cause of morbidity and mortality. Approximately 90% of these patients carry loss-of-function mutations in the enzyme ferrochelatase (FECH), while 5% of cases are associated with activating mutations in the C-terminus of ALAS2. Recent work has begun to uncover novel mechanisms of heme regulation that may account for the remaining 5% of cases with previously unknown genetic basis. One erythropoietic protoporphyria family has been identified with inherited mutations in the AAA+ protease ClpXP that regulates ALAS activity. In this review article, recent findings on the role of ClpXP as both an activating unfoldase and degrading protease and its impact on heme synthesis will be discussed. This review will also highlight the role of ClpX dysfunction in erythropoietic protoporphyria.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Hematology, Transfusion and Cell Therapy - Volume 40, Issue 2, AprilâJune 2018, Pages 182-188
Journal: Hematology, Transfusion and Cell Therapy - Volume 40, Issue 2, AprilâJune 2018, Pages 182-188
نویسندگان
Jared C. Whitman, Barry H. Paw, Jacky Chung,