Truncation of CGI-58 Protein Causes Malformation of Lamellar Granules Resulting in Ichthyosis in Dorfman-Chanarin Syndrome
نویسندگان
چکیده
منابع مشابه
ABHD5/CGI-58, the Chanarin-Dorfman Syndrome Protein, Mobilises Lipid Stores for Hepatitis C Virus Production
Hepatitis C virus (HCV) particles closely mimic human very-low-density lipoproteins (VLDL) to evade humoral immunity and to facilitate cell entry. However, the principles that govern HCV association with VLDL components are poorly defined. Using an siRNA screen, we identified ABHD5 (α/β hydrolase domain containing protein 5, also known as CGI-58) as a new host factor promoting both virus assemb...
متن کاملChanarin-Dorfman Syndrome.
Chanarin-Dorfman syndrome is a rare, genetically determined autosomal recessive disorder, characterised by the presence of lipid droplets in the cytoplasm of multiple tissues of the body, particularly in the blood leukocytes and congenital non-bullous icthyosiform erythroderma. In this paper, we report one-year child who presented with skin lesions since birth and hepatomegaly. Liver biopsy sho...
متن کاملDorfman-Chanarin syndrome: a case with hyperlipidemia.
Dorfman-Chanarin syndrome is a rare, autosomal recessive disorder characterized by congenital ichthyosis and presence of intracellular lipid droplets in most tissues. Here, we present a patient from Turkey, who is the fourth Turkish case in the literature with this syndrome, and we review the previous reported cases. He was also the second case reported with hyperlipidemia.
متن کاملChanarin-Dorfman Syndrome with Absent Jordan's Anomaly
Sir, Chanarin‐Dorfman syndrome (CDS) is a rare inherited disorder characterized by congenital ichthyosis, nonbullous ichthyosiform erythroderma, myopathy, and hepatic involvement with deposition of neutral lipids in skin, muscle, liver, central nervous system, and granulocytes. Variable skin and systemic involvement makes diagnosis difficult in some cases wherein an easy screening tool in the f...
متن کاملChanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings
UNLABELLED Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolism disorder associated with congenital ichthyosis and multi-system involvement. Observation of lipid vacuoles in neutrophils (Jordan's anomaly) in peripheral blood smears in patients with ichthyosiform erythroderma is diagnostic. Herein we present 2 siblings with CDS that were referred ...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2003
ISSN: 0022-202X
DOI: 10.1046/j.1523-1747.2003.12520.x