M
Maki Goto
Researcher at Hokkaido University
Publications - 38
Citations - 1488
Maki Goto is an academic researcher from Hokkaido University. The author has contributed to research in topics: Mutation & Keratinocyte. The author has an hindex of 18, co-authored 33 publications receiving 1379 citations.
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Journal ArticleDOI
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
Masashi Akiyama,Yoriko Sugiyama-Nakagiri,Kaori Sakai,James R. McMillan,Maki Goto,Ken Arita,Yukiko Tsuji-Abe,Nobuko Tabata,Kentaro Matsuoka,Rikako Sasaki,Daisuke Sawamura,Hiroshi Shimizu +11 more
TL;DR: It is concluded that ABCA 12 works as an epidermal keratinocyte lipid transporter and that defective ABCA12 results in a loss of the skin lipid barrier, leading to HI.
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Humanization of autoantigen
Wataru Nishie,Daisuke Sawamura,Maki Goto,Kei Ito,Akihiko Shibaki,James R. McMillan,Kaori Sakai,Hideki Nakamura,Edit Olasz,Kim B. Yancey,Masashi Akiyama,Hiroshi Shimizu +11 more
TL;DR: It is shown that human autoimmune disease can be reproduced using genetically engineered model mice and injected human BP autoantibody into Col17-knockout mice rescued by the human ortholog, resulting in BP-like skin lesions and a human disease phenotype.
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Targeted skipping of a single exon harboring a premature termination codon mutation: implications and potential for gene correction therapy for selective dystrophic epidermolysis bullosa patients.
Maki Goto,Daisuke Sawamura,Wataru Nishie,Kaori Sakai,James R. McMillan,Masashi Akiyama,Hiroshi Shimizu +6 more
TL;DR: It is concluded that skipping of targeted exons using mutation-specific AON may show potential for future gene therapy for DEB patients, as it induced effective skipping of normal exon 70 containing 16 amino acids.
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Fibroblasts Show More Potential as Target Cells than Keratinocytes in COL7A1 Gene Therapy of Dystrophic Epidermolysis Bullosa
Maki Goto,Daisuke Sawamura,Kei Ito,Masataka Abe,Wataru Nishie,Kaori Sakai,Akihiko Shibaki,Masashi Akiyama,Hiroshi Shimizu +8 more
TL;DR: Results suggest that fibroblasts may be a better gene therapy target of DEB treatment than keratinocytes, and which gene-transferred cells can most efficiently express collagen VII in the skin.
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Epidermolysis Bullosa Simplex Associated with Pyloric Atresia Is a Novel Clinical Subtype Caused by Mutations in the Plectin Gene (PLEC1)
Hiroyuki Nakamura,Daisuke Sawamura,Maki Goto,Hideki Nakamura,James R. McMillan,Susam Park,Sumio Kono,Shiro Hasegawa,Son'e Paku,Tomohiko Nakamura,Yoshihumi Ogiso,Hiroshi Shimizu +11 more
TL;DR: Results indicate that PLEC1 is a possible causative gene in this clinical subtype, EBS associated with PA, and in terms of clinical prognosis, this novel subtype is the lethal variant in the EBS category.