COG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function

• Yuwei Zhou ,

  Contributed equally to this work with: Yuwei Zhou, Keyi Li, Ruowei Zhu, Xue Ma

  Roles Conceptualization, Formal analysis, Investigation, Methodology, Writing – original draft

  Affiliations Laboratory Medicine Center, Department of Genetic and Genomic Medicine, Zhejiang Provincial People’s Hospital, Affiliated People’s Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China, Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, China

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• Keyi Li ,

  Contributed equally to this work with: Yuwei Zhou, Keyi Li, Ruowei Zhu, Xue Ma

  Roles Investigation, Writing – review & editing

  Affiliation Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, China

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• Ruowei Zhu ,

  Contributed equally to this work with: Yuwei Zhou, Keyi Li, Ruowei Zhu, Xue Ma

  Roles Investigation, Writing – review & editing

  Affiliation Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, China

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• Xue Ma ,

  Contributed equally to this work with: Yuwei Zhou, Keyi Li, Ruowei Zhu, Xue Ma

  Roles Conceptualization, Investigation, Visualization, Writing – original draft, Writing – review & editing

  Affiliation Department of Pediatrics, Peking University First Hospital, Beijing, China

  ⨯
• Xinfei Ye,

  Roles Investigation

  Affiliation Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, China

  ⨯
• Mengqing Mao,

  Roles Investigation

  Affiliation Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, China

  ⨯
• Ding Li,

  Roles Investigation

  Affiliation School of Laboratory Medicine and Bioengineering, Hangzhou Medical College, Hangzhou, China

  ⨯
• Xiaofei Zeng,

  Roles Investigation, Writing – review & editing

  Affiliation Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, China

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• Zhehui Chen,

  Roles Investigation, Writing – review & editing

  Affiliations Department of Pediatrics, Peking University First Hospital, Beijing, China, Scientific Research and Innovation Center of Women and Children’s Hospital, School of Medicine, Xiamen University, Xiamen, Fujian, China

  ⨯
• Jing Wu,

  Roles Funding acquisition, Resources

  Affiliation Center for Rehabilitation Medicine, Department of Ophthalmology, Zhejiang Provincial People’s Hospital, Affiliated People’s Hospital, Hangzhou Medical College, Hangzhou, China

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• Liqin Jin,

  Roles Conceptualization, Methodology, Supervision, Validation, Writing – review & editing

  Affiliations Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, China, Department of Scientific Research, Zhejiang Provincial People’s Hospital, Affiliated People’s Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China

  ⨯
• Xiaohua Tang ,

  Roles Conceptualization

  * E-mail: xiaoting_lou@163.com (XL); jxlu313@163.com (JL); organic.acid@126.com (YY); tsh006@163.com (XT)

  Affiliation Laboratory Medicine Center, Department of Genetic and Genomic Medicine, Zhejiang Provincial People’s Hospital, Affiliated People’s Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China

  ⨯
• Yanling Yang ,

  Roles Conceptualization, Methodology, Supervision, Validation, Writing – review & editing

  * E-mail: xiaoting_lou@163.com (XL); jxlu313@163.com (JL); organic.acid@126.com (YY); tsh006@163.com (XT)

  Affiliation Department of Pediatrics, Peking University First Hospital, Beijing, China

  ⨯
• Jianxin Lyu ,

  Roles Funding acquisition, Resources, Supervision, Writing – review & editing

  * E-mail: xiaoting_lou@163.com (XL); jxlu313@163.com (JL); organic.acid@126.com (YY); tsh006@163.com (XT)

  Affiliations Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, China, Laboratory Medicine Center, Department of Clinical Laboratory, Zhejiang Provincial People’s Hospital, Affiliated People’s Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China

  ⨯
• Xiaoting Lou

  Roles Conceptualization, Formal analysis, Funding acquisition, Methodology, Supervision, Validation, Writing – review & editing

  * E-mail: xiaoting_lou@163.com (XL); jxlu313@163.com (JL); organic.acid@126.com (YY); tsh006@163.com (XT)

  Affiliations Laboratory Medicine Center, Department of Genetic and Genomic Medicine, Zhejiang Provincial People’s Hospital, Affiliated People’s Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China, Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, China, School of Laboratory Medicine and Bioengineering, Hangzhou Medical College, Hangzhou, China

  https://orcid.org/0009-0008-2125-6394

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