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细胞囊泡萌芽与人类健康
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Randy Schekman (Berkeley) Part 3: Human Diseases of Vesicle Budding

Human COPII genes are duplicated and some may have evolved specialized functions. Two rare human diseases affect the activity of one of two copies of Sar1 and the Sec23A subunit of the COPII coat. Anderson's disease results in the failure of enterocytes of the absorptive epithelium to secrete large lipoprotein particles called chylomicrons. Point mutations in one of two copies of Sar1 results in the accumulation of chylomicrons in the ER. CLSD, a rare craniofacial disorder likely due to the selective failure of secretion of certain connective tissue proteins such as collagen, is caused by a conservative amino acid substitution in Sec23A that blocks completion of COPII coat assembly. See more athttp://www.ibioseminars.org
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  • 讲师:兰迪·谢克曼(化学家)

    兰迪·韦恩·谢克曼,美国细胞生物学家,加州大学伯克利分校教授,曾任《美国国家科学院院刊》主编。 1992年当选美国国家科学院院士。2002年与詹姆斯·罗思曼因对细胞膜传输的研究获拉斯克基础医学奖。2013年获得诺贝尔生理学或医学奖。