Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.-论文-万方医学网

作者： Paola,Fortugno ^[1] ; Francesco,Angelucci ^[2] ; Gianluca,Cestra ^[3] ; Letizia,Camerota ^[4] ; Angelo Salvatore,Ferraro ^[2] ; Sonia,Cordisco ^[5] ; Luigi,Uccioli ^[1] ; Daniele,Castiglia ^[2] ; Barbara,De Angelis ^[6] ; Ingo,Kurth ^[1] ; Uwe,Kornak ^[7] ; Francesco,Brancati ^[8]

作者单位： Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy. ^[1] Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy. ^[2] IBPM, Istituto di Biologia e Patologia Molecolari, CNR, Rome, Italy. ^[3] Deptartment of Biology and Biotechnology, University of Rome "Sapienza,", Rome, Italy. ^[4] Servizio di Immunoematologia e Medicina Trasfusionale, Policlinico Tor Vergata, Rome, Italy. ^[5] Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy. ^[6] Department of Plastic and Reconstructive Surgery, University of Rome "Tor Vergata,", Rome, Italy. ^[7] Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany. ^[8] Institut für Medizinische Genetik und Humangenetik and Berlin-Brandenburg Center for Regenerative Therapies, Charité, Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany. ^[9] FG Development and Disease, Max-Planck-Institut fuer Molekulare Genetik, Berlin, Germany. ^[10]

主题词肌动蛋白类(Actins);成年人(Adult);老年人(Aged);氨基酸序列(Amino Acid Sequence);动物(Animals);COS细胞(COS Cells);细胞黏附(Cell Adhesion);细胞运动(Cell Movement);真皮(Dermis);家庭(Family);女(雌)性(Female);成纤维细胞(Fibroblasts);基因, 隐性(Genes, Recessive);HEK293细胞(HEK293 Cells);遗传性感觉和自主神经性神经病(Hereditary Sensory and Autonomic Neuropathies);人类(Humans);男(雄)性(Male);中年人(Middle Aged);突变(Mutation);神经元(Neurons);蛋白质结合(Protein Binding);蛋白质亚型(Protein Isoforms)

DOI 10.1002/humu.23678

PMID 30371979

发布时间 2020-03-06

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Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.

Human mutation

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Human mutation

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Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.

Human mutation

相似文献

Human mutation

相关期刊

检索历史清除