货物与基因：从人类遗传疾病中洞察囊泡运输
Cargos and genes: insights into vesicular transport from inherited human disease.
作者信息
Gissen Paul, Maher Eamonn R
机构信息
Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research West, Edgbaston, Birmingham, B15 2TT, UK.
出版信息
J Med Genet. 2007 Sep;44(9):545-55. doi: 10.1136/jmg.2007.050294. Epub 2007 May 25.
Abstract
Many cellular functions depend on the correct delivery of proteins to specific intracellular destinations. Mutations that alter protein structure and disrupt trafficking of the protein (the "cargo") occur in many genetic disorders. In addition, an increasing number of disorders have been linked to mutations in the genes encoding components of the vesicular transport machinery responsible for normal protein trafficking. We review the clinical phenotypes and molecular pathology of such inherited "protein-trafficking disorders", which provide seminal insights into the molecular mechanisms of protein trafficking. Further characterisation of this expanding group of disorders will provide a basis for developing new diagnostic techniques and treatment strategies and offer insights into the molecular pathology of common multifactorial diseases that have been linked to disordered trafficking mechanisms.
摘要
许多细胞功能依赖于蛋白质正确运输到特定的细胞内目的地。改变蛋白质结构并破坏蛋白质（“货物”）运输的突变发生在许多遗传疾病中。此外，越来越多的疾病与编码负责正常蛋白质运输的囊泡运输机制组件的基因突变有关。我们综述了这类遗传性“蛋白质运输障碍”的临床表型和分子病理学，这些研究为蛋白质运输的分子机制提供了开创性的见解。对这一不断扩大的疾病群体的进一步表征将为开发新的诊断技术和治疗策略提供基础，并为与运输机制紊乱相关的常见多因素疾病的分子病理学提供见解。
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