Molecular mechanisms of autosomal recessive hypercholesterolemia
نویسندگان
چکیده
منابع مشابه
Molecular mechanisms of autosomal recessive hypercholesterolemia.
PURPOSE OF REVIEW Autosomal recessive hypercholesterolemia (ARH) is a rare Mendelian dyslipidemia characterized by markedly elevated plasma LDL levels, xanthomatosis, and premature coronary artery disease. LDL receptor function is normal, or only moderately impaired in fibroblasts from ARH patients, but their cultured lymphocytes show increased cell-surface LDL binding, and impaired LDL degrada...
متن کاملStandards of Evidence and Mechanistic Inference in Autosomal Recessive Hypercholesterolemia.
The study of orphan diseases, defined by the US Food and Drug Administration as any condition that affects <200 000 people nationwide, has been crucial not only in our understanding of disease pathophysiology and gene discovery but also in therapeutic development. Individuals with orphan conditions have played an active role not only in improving care of their own condition but often in improvi...
متن کاملGenetics, clinical phenotype, and molecular cell biology of autosomal recessive hypercholesterolemia.
The recent characterization of a rare genetic defect causing autosomal recessive hypercholesterolemia (ARH) has provided new insights into the underlying mechanism of clathrin-mediated internalization of the LDL receptor. Mutations in ARH on chromosome 1p35-36.1 prevent normal internalization of the LDL receptor by cultured lymphocytes and monocyte-derived macrophages but not by skin fibroblast...
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متن کاملA novel Thr56Met mutation of the autosomal recessive hypercholesterolemia gene associated with hypercholesterolemia.
AIM The autosomal recessive hypercholesterolemia (ARH) gene is located on chromosome 1p35 and encodes a 308-amino acid protein containing a phosphotyrosine-binding domain. Several researchers have identified mutations of ARH that cause autosomal recessive hypercholesterolemia; however, it remains unknown whether this gene is involved in common hypercholesterolemia. METHODS AND RESULTS We sear...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2002
ISSN: 1460-2083
DOI: 10.1093/hmg/11.24.3019