Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus.
第一作者:
Nannette,Marr
第一单位:
160 Department of Cell Physiology, Nijmegen Center of Molecular Life Sciences, University Medical Center St Radboud, PO Box 9101, 6500 HB Nijmegen, The Netherlands.
作者:
主题词
氨基酸序列(Amino Acid Sequence);动物(Animals);水孔蛋白质类(Aquaporins);碱基序列(Base Sequence);细胞膜(Cell Membrane);细胞, 培养的(Cells, Cultured);脱氨基精氨酸血管升压素(Deamino Arginine Vasopressin);尿崩症, 肾性(Diabetes Insipidus, Nephrogenic);狗(Dogs);内颗粒(Endosomes);女(雌)性(Female);人类(Humans);免疫组织化学(Immunohistochemistry);肾(Kidney);溶酶体(Lysosomes);男(雄)性(Male);分子序列数据(Molecular Sequence Data);卵母细胞(Oocytes);通透性(Permeability);点突变(Point Mutation);蛋白质转运(Protein Transport);肾脏用药(Renal Agents);序列缺失(Sequence Deletion);水(Water)
DOI
10.1093/hmg/11.7.779
PMID
11929850
发布时间
2019-05-13
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Human molecular genetics
779-89页
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