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CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual

DC FieldValueLanguage
dc.contributor.author조성래-
dc.contributor.author하윤-
dc.date.accessioned2020-12-11T07:47:10Z-
dc.date.available2020-12-11T07:47:10Z-
dc.date.issued2020-12-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/180656-
dc.description.abstractAmyotrophic lateral sclerosis (ALS) is a severe disease causing motor neuron death, but a complete cure has not been developed and related genes have not been defined in more than 80% of cases. Here we compared whole genome sequencing results from a male ALS patient and his healthy parents to identify relevant variants, and chose one variant in the X-linked ATP7A gene, M1311V, as a strong disease-linked candidate after profound examination. Although this variant is not rare in the Ashkenazi Jewish population according to results in the genome aggregation database (gnomAD), CRISPR-mediated gene correction of this mutation in patient-derived and re-differentiated motor neurons drastically rescued neuronal activities and functions. These results suggest that the ATP7A M1311V mutation has a potential responsibility for ALS in this patient and might be a potential therapeutic target, revealed here by a personalized medicine strategy.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherNature Publishing Group UK-
dc.relation.isPartOfCOMMUNICATIONS BIOLOGY-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.titleCRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Rehabilitation Medicine (재활의학교실)-
dc.contributor.googleauthorYeomin Yun-
dc.contributor.googleauthorSung-Ah Hong-
dc.contributor.googleauthorKa-Kyung Kim-
dc.contributor.googleauthorDaye Baek-
dc.contributor.googleauthorDongsu Lee-
dc.contributor.googleauthorAshwini M Londhe-
dc.contributor.googleauthorMinhyung Lee-
dc.contributor.googleauthorJihyeon Yu-
dc.contributor.googleauthorZachary T McEachin-
dc.contributor.googleauthorGary J Bassell-
dc.contributor.googleauthorRobert Bowser-
dc.contributor.googleauthorChadwick M Hales-
dc.contributor.googleauthorSung-Rae Cho-
dc.contributor.googleauthorJanghwan Kim-
dc.contributor.googleauthorAe Nim Pae-
dc.contributor.googleauthorEunji Cheong-
dc.contributor.googleauthorSangwoo Kim-
dc.contributor.googleauthorNicholas M Boulis-
dc.contributor.googleauthorSangsu Bae-
dc.contributor.googleauthorYoon Ha-
dc.identifier.doi10.1038/s42003-020-0755-1-
dc.contributor.localIdA03831-
dc.contributor.localIdA04255-
dc.contributor.localIdA04255-
dc.relation.journalcodeJ03836-
dc.identifier.eissn2399-3642-
dc.identifier.pmid31959876-
dc.contributor.alternativeNameCho, Sung Rae-
dc.contributor.affiliatedAuthor조성래-
dc.contributor.affiliatedAuthor하윤-
dc.contributor.affiliatedAuthor하윤-
dc.citation.volume3-
dc.citation.number1-
dc.citation.startPage33-
dc.identifier.bibliographicCitationCOMMUNICATIONS BIOLOGY, Vol.3(1) : 33, 2020-12-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Neurosurgery (신경외과학교실) > 1. Journal Papers

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