Post-translationally abnormal collagens of prolyl 3-hydroxylase-2 null mice offer a pathobiological mechanism for the high myopia linked to human LEPREL1 mutations.
第一作者:
David M,Hudson
第一单位:
From the Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington 98195 and.
作者:
医学主题词
氨基酸序列(Amino Acid Sequence);动物(Animals);胶原Ⅰ型(Collagen Type I);胶原Ⅳ型(Collagen Type IV);角膜(Cornea);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);羟基化(Hydroxylation);晶体囊(Lens Capsule, Crystalline);小鼠, 近交C57BL(Mice, Inbred C57BL);小鼠, 基因敲除(Mice, Knockout);分子序列数据(Molecular Sequence Data);突变(Mutation);近视(Myopia);器官特异性(Organ Specificity);表型(Phenotype);溶胶原脯氨酸二氧酶(Procollagen-Proline Dioxygenase);蛋白质加工, 转译后(Protein Processing, Post-Translational);巩膜(Sclera)
DOI
10.1074/jbc.M114.634915
PMID
25645914
发布时间
2021-02-05
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