突变依赖性病理机制决定了肥大蛋白病中的表型。
关键词: BEST1 Best disease Best vitelliform macular dystrophy ER-associated degradation autosomal dominant vitreoretinochoroidopathy autosomal recessive bestrophinopathy bestrophin-1 endo-lysosomal degradation pathway induced pluripotent stem cell pathomechanism retinal pigment epithelium
Mesh : Bestrophins / genetics metabolism Cell Line Choroid Diseases / genetics metabolism pathology Eye Diseases, Hereditary / genetics metabolism pathology Genes, Recessive Genetic Predisposition to Disease / genetics Homeostasis Humans Hydrogen-Ion Concentration Induced Pluripotent Stem Cells Mutation Phenotype Retina / metabolism pathology Retinal Degeneration / genetics metabolism pathology Retinal Diseases / genetics metabolism pathology Retinal Pigment Epithelium / metabolism Vitelliform Macular Dystrophy
来 源:
DOI:10.3390/ijms21051597
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