A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl<sup>-</sup>/H<sup>+</sup>-Exchanger, Causes Early-Onset Neurodegeneration.-论文-万方医学网

作者： Maya M,Polovitskaya ^[1] ; Carlo,Barbini ^[1] ; Diego,Martinelli ^[2] ; Frederike L,Harms ^[3] ; F Sessions,Cole ^[4] ; Paolo,Calligari ^[5] ; Gianfranco,Bocchinfuso ^[5] ; Lorenzo,Stella ^[5] ; Andrea,Ciolfi ^[2] ; Marcello,Niceta ^[2] ; Teresa,Rizza ^[2] ; Marwan,Shinawi ^[6] ; Kathleen,Sisco ^[6] ; Jessika,Johannsen ^[7] ; Jonas,Denecke ^[7] ; Rosalba,Carrozzo ^[2] ; Daniel J,Wegner ^[4] ; Kerstin,Kutsche ^[3] ; Marco,Tartaglia ^[8] ; Thomas J,Jentsch ^[9]

作者单位： Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), 13125 Berlin, Germany; Max-Delbrück-Centrum für Molekulare Medizin (MDC), 13125 Berlin, Germany. ^[1] Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. ^[2] Institute for Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. ^[3] Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, and St. Louis Children's Hospital, St. Louis, MO 63110, USA. ^[4] Department of Chemical Science and Technologies, University "Tor Vergata," 00133 Rome, Italy. ^[5] Division of Genetics and Genomic Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, and St. Louis Children's Hospital, St. Louis, MO 63110, USA. ^[6] Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. ^[7] Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net. ^[8] Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), 13125 Berlin, Germany; Max-Delbrück-Centrum für Molekulare Medizin (MDC), 13125 Berlin, Germany; NeuroCure Cluster of Excellence, Charité Universitätsmedizin, 10117 Berlin, Germany. Electronic address: jentsch@fmp-berlin.de. ^[9]

主题词等位基因(Alleles);动物(Animals);CHO细胞(CHO Cells);儿童(Child);氯化物通道(Chloride Channels);仓鼠属(Cricetulus);电生理学(Electrophysiology);内颗粒(Endosomes);女(雌)性(Female);杂合子(Heterozygote);内环境稳定(Homeostasis);人类(Humans);氢离子浓度(Hydrogen-Ion Concentration);婴儿(Infant);离子转运(Ion Transport);离子(Ions);溶酶体(Lysosomes);大环内酯类(Macrolides);磁共振成像(Magnetic Resonance Imaging);男(雄)性(Male);小鼠(Mice);小鼠, 基因敲除(Mice, Knockout);显微镜检查, 电视(Microscopy, Video);神经变性疾病(Neurodegenerative Diseases);转染(Transfection)

DOI 10.1016/j.ajhg.2020.11.004

PMID 33217309

发布时间 2023-12-13

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A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl<sup>-</sup>/H<sup>+</sup>-Exchanger, Causes Early-Onset Neurodegeneration.

American journal of human genetics

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American journal of human genetics

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A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl<sup>-</sup>/H<sup>+</sup>-Exchanger, Causes Early-Onset Neurodegeneration.

American journal of human genetics

相似文献

American journal of human genetics

相关期刊

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