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Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.

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作者单位: Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, 467-8601, Japan. [1] Department of Genetics, Osaka University Graduate School of Medicine, Osaka, 565-0871, Japan. [2] Research Center for Autophagy, Osaka University Graduate School of Medicine, Osaka, 565-0871, Japan. [3] Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan. [4] Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, 113-8510, Japan. [5] Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama, 230-0045, Japan. [6] Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, 060-8638, Japan. [7] Department of Pediatrics, Kitasato University School of Medicine, Sagamihara, 252-0373, Japan. [8] Department of Pediatrics, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata, 950-2085, Japan. [9] Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, 594-1101, Japan. [10] Department of Pediatrics, Wakayama Medical University, Wakayama, 641-8509, Japan. [11] Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, 113-8655, Japan. [12] Department of Neonatology, Ibaraki Children's Hospital, Mito, 311-4145, Japan. [13] Department of Child Health, Faculty of Medicine, Tsukuba University, Tsukuba, 305-8576, Japan. [14] Department of Pediatrics, Faculty of Medicine, Tokyo Medical and Dental University, Tokyo, 113-8519, Japan. [15] Department of Radiology, Nagoya City University Graduate School of Medical Sciences, Nagoya, 467-8601, Japan. [16] Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8551, Japan. [17] Department of Pediatrics, Showa University School of Medicine, Tokyo, 142-8666, Japan. [18] Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan. [19] Division of Regenerative Medicine, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, Osaka, 540-0006, Japan. [20] Department of Neurosurgery, Osaka National Hospital, National Hospital Organization, Osaka, 540-0006, Japan. [21] Department of Neurosurgery, Takatsuki General Hospital, Osaka, 569-1192, Japan. [22] Center for Medical Genetics, Keio University School of Medicine, Tokyo, 160-8582, Japan. [23] Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, 467-8601, Japan. ss11@med.nagoya-cu.ac.jp. [24]
DOI 10.1038/s41598-017-02840-8
PMID 28615637
发布时间 2023-12-13
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