A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide.

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作者： Jing,Xu ^[1] ; Li,Xu ^[1] ; Yeh S,Lau ^[1] ; Yandi,Gao ^[1] ; Steven A,Moore ^[2] ; Renzhi,Han ^[1]

作者单位： Division of Cardiovascular Medicine, Department of Cardiac Surgery, Dorothy M. Davis Heart and Lung Research Institute, The Ohio State University Wexner Medical Center, Columbus, OH, USA. ^[1] Department of Pathology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA. ^[2]

关键词 Ano5 LGMD2L TMEM16 aggregate anoctamin muscular dystrophy

主题词动物(Animals);抗体, 单克隆(Antibodies, Monoclonal);表位(Epitopes);HEK293细胞(HEK293 Cells);纯合子(Homozygote);人类(Humans);免疫组织化学(Immunohistochemistry);内含子(Introns);小鼠(Mice);肌营养不良, 肢带型(Muscular Dystrophies, Limb-Girdle);突变(Mutation);肽类(Peptides);RNA剪接(RNA Splicing);肌浆网(Sarcoplasmic Reticulum)

DOI 10.1002/cjp2.92

PMID 29665321

发布时间 2023-08-16

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The journal of pathology. Clinical research

2018年4卷2期

135-145页

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A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide.

The journal of pathology. Clinical research

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The journal of pathology. Clinical research

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A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide.

The journal of pathology. Clinical research

相似文献

The journal of pathology. Clinical research

相关期刊

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