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• W2164046385 endingPage "29" @default.
• W2164046385 startingPage "22" @default.
• W2164046385 abstract "Purpose of review Chediak-Higashi syndrome, a rare autosomal recessive disorder, was described over 50 years ago. Patients show hypopigmentation, recurrent infections, mild coagulation defects and varying neurologic problems. Treatment is bone marrow transplant, which is effective in treating the hematologic and immune defects, however the neurologic problems persist. The CHS1/LYST gene was identified over 10 years ago and homologous CHS1/LYST genes are present in all eukaryotes. This review will discuss the advances made in understanding the clinical aspects of the syndrome and the function of CHS1/LYST/Beige. Recent findings Clinical reports of Chediak-Higashi syndrome have identified mutations throughout the CHS1/LYST gene. The nature of the mutation can be a predictor of the severity of the disease. Over the past decade the CHS1/LYST family of proteins has been analyzed using model organisms, two-hybrid analysis, overexpression phenotypes and dominant negatives. These studies suggest that the CHS1/LYST protein is involved in either vesicle fusion or fission. Summary Although CHS is a rare disease, the Chediak-like family of proteins is providing insight into the regulation of vesicle trafficking. Understanding the basic mechanisms that govern vesicle trafficking will provide essential information regarding how loss of CHS1/LYST affects hematologic, immunologic and neurologic processes." @default.
• W2164046385 created "2016-06-24" @default.
• W2164046385 creator A5039981662 @default.
• W2164046385 creator A5069634632 @default.
• W2164046385 creator A5075559973 @default.
• W2164046385 date "2008-01-01" @default.
• W2164046385 modified "2023-10-12" @default.
• W2164046385 title "Chediak-Higashi syndrome" @default.
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• W2164046385 doi "https://doi.org/10.1097/moh.0b013e3282f2bcce" @default.

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