{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T11:36:49Z","timestamp":1761824209007,"version":"3.37.3"},"reference-count":34,"publisher":"Oxford University Press (OUP)","issue":"15","license":[{"start":{"date-parts":[[2020,6,27]],"date-time":"2020-06-27T00:00:00Z","timestamp":1593216000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31970558"],"award-info":[{"award-number":["31970558"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2018B030311033"],"award-info":[{"award-number":["2018B030311033"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012245","name":"Science and Technology Planning Project of Guangdong Province","doi-asserted-by":"publisher","award":["2019A030317019"],"award-info":[{"award-number":["2019A030317019"]}],"id":[{"id":"10.13039\/501100012245","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Science and Technology Planning Project of Guangzhou","award":["201707010301"],"award-info":[{"award-number":["201707010301"]}]},{"name":"Research Grant of Guangdong Province Key Laboratory of Psychiatric Disorders","award":["N201903"],"award-info":[{"award-number":["N201903"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,8,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Charcot\u2013Marie\u2013Tooth (CMT) disease is the most common inherited peripheral neuropathy and shows clinical and genetic heterogeneity. Mutations in C1orf194 encoding a Ca2+ regulator in neurons and Schwann cells have been reported previously by us to cause CMT disease. In here, we further investigated the function and pathogenic mechanism of C1or194 by generating C1orf194 knockout (KO) mice. Homozygous mutants of C1orf194 mice exhibited incomplete embryonic lethality, characterized by differentiation abnormalities and stillbirth on embryonic days 7.5\u201315.5. Heterozygous and surviving homozygous C1orf194 KO mice developed motor and sensory defects at the age of 4\u00a0months. Electrophysiologic recordings showed decreased compound muscle action potential and motor nerve conduction velocity in the sciatic nerve of C1orf194-deficient mice as a pathologic feature of dominant intermediate-type CMT. Transmission electron microscopy analysis revealed demyelination and axonal atrophy in the sciatic nerve as well as swelling and loss of mitochondrial matrix and other abnormalities in axons and Schwann cells. A histopathologic examination showed a loss of motor neurons in the anterior horn of the spinal cord and muscle atrophy. Shorter internodal length between nodes of Ranvier and Schmidt\u2013Lanterman incisures was detected in the sciatic nerve of affected animals. These results indicate that C1orf194 KO mice can serve as an animal model of CMT with a severe dominant intermediate CMT phenotype that can be used to investigate the molecular mechanisms of the disease and evaluate the efficacy of therapeutic strategies.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa129","type":"journal-article","created":{"date-parts":[[2020,6,20]],"date-time":"2020-06-20T19:14:13Z","timestamp":1592680453000},"page":"2471-2480","source":"Crossref","is-referenced-by-count":5,"title":["C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot\u2013Marie\u2013Tooth disease in a knockout mouse model"],"prefix":"10.1093","volume":"29","author":[{"given":"Cheng","family":"Huang","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zong Rui","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shun Chang","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Ruijin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Di","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei Yi","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhi Kui","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying Chun","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhuo Jun","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fei","family":"He","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoyuan","family":"Xu","sequence":"additional","affiliation":[{"name":"Experimental Teaching Center for Basic Medical Sciences, Southern Medical University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ziang","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo Yang","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue Mao","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiang Min","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China"},{"name":"Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou, Guangdong Province, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fu","family":"Xiong","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China"},{"name":"Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou, Guangdong Province, P.R. China"},{"name":"Guangdong Province Key Laboratory of Psychiatric Disorders, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2020,6,27]]},"reference":[{"key":"2020090402222436200_ref1","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1097\/WCO.0000000000000474","article-title":"New developments in Charcot-Marie-Tooth neuropathy and related diseases","volume":"30","author":"Pareyson","year":"2017","journal-title":"Curr. Opin. Neurol."},{"key":"2020090402222436200_ref2","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1038\/s41582-019-0254-5","article-title":"Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges","volume":"15","author":"Pipis","year":"2019","journal-title":"Nat. Rev. Neurol."},{"key":"2020090402222436200_ref3","doi-asserted-by":"crossref","first-page":"13","DOI":"10.3390\/genes5010013","article-title":"Genetics of Charcot-Marie-Tooth (CMT) disease within the frame of the human genome project success","volume":"5","author":"Timmerman","year":"2014","journal-title":"Genes (Basel)"},{"key":"2020090402222436200_ref4","doi-asserted-by":"crossref","first-page":"1755","DOI":"10.1093\/hmg\/ddt022","article-title":"Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C","volume":"22","author":"Lee","year":"2013","journal-title":"Hum. Mol. 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