Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Sei-Ichi Aikawa"'
Autor:
Takashi Kadowaki, Toshimasa Yamauchi, Nobuhiro Shojima, Susumu Kanzaki, Keiichi Hanaki, Tatsuhiko Tsunoda, Yukinori Okada, Sei-Ichi Aikawa, Fumiko Matsuzawa, Takashi Kato, Ken Suzuki, Hiroko Kadowaki, Fuyuki Miya, Yuki Kawashima Sonoyama, Jun Hosoe
We previously reported that genotype-phenotype correlations in 12 missense variants causing severe insulin resistance, located in the second and third fibronectin type III (FnIII) domains of the insulin receptor (INSR), containing the α-β cleavage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::610c89e8a5a94cf6a62712f7505f4fc1
https://doi.org/10.2337/figshare.14579415.v1
https://doi.org/10.2337/figshare.14579415.v1
Publikováno v:
Ophthalmic genetics. 41(6)
The responsible genetic variants for occult macular dystrophy (OMD) were found at the predicted intrinsically disordered region (IDR) of theWe examined the phenotypes and genotypes of family members from OMD. In addition, the genetic characteristics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::884c54ddd47fd42062f141f952c7ae58
https://pubmed.ncbi.nlm.nih.gov/32940107
https://pubmed.ncbi.nlm.nih.gov/32940107
Autor:
Tim Edmunds, Naho Ohyanagi, Kohji Itoh, Kaori Fujishima, Kobayashi Toshihide, Tadayasu Togawa, Daisuke Tsuji, Masahiko Ikekita, Kanako Sugawara, Ikuo Kawashima, Michiru Yoshimizu, Youichi Tajima, Sei-ichi Aikawa, Fumiko Matsuzawa, Kunihiko Iwamoto, Toshihiro Suzuki, Hitoshi Sakuraba, Kazuki Ohno
Publikováno v:
Clinica Chimica Acta. 391:68-73
Background Recently, enzyme enhancement therapy (EET) for Pompe disease involving imino sugars, which act as potential inhibitors of acid α-glucosidases in vitro , to improve the stability and/or transportation of mutant acid α-glucosidases in cell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2293f690368010fe83c4ecfdf0f3f5c
https://doi.org/10.1016/j.cca.2008.02.014
https://doi.org/10.1016/j.cca.2008.02.014
Autor:
Toshio Kitazawa, Fumiko Matsuzawa, Sei Ichi Aikawa, David L. Brautigan, Jason A. Kirkbride, Masumi Eto, Shinya Ohki, Noriyoshi Isozumi, Yumi Nishimura
Publikováno v:
Structure. 15:1591-1602
Phosphorylation of endogenous inhibitor proteins specific for type-1 Ser/Thr phosphatase (PP1) provides a mechanism for reciprocal coordination of kinase and phosphatase activities. Phosphorylation of Thr38 in the inhibitor protein CPI-17 transduces
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::437b75dcb9a0a4df25f2502cd14d8e95
https://doi.org/10.1016/j.str.2007.10.014
https://doi.org/10.1016/j.str.2007.10.014
Publikováno v:
Human Genetics. 117:317-328
Fabry disease comprises classic and variant phenotypes. The former needs early enzyme replacement therapy, and galactose infusion is effective for some variant cases. Attempts of early diagnosis before manifestations appear will begin in the near fut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77b2b61ae4a414a3707958d11389ba6b
https://doi.org/10.1007/s00439-005-1300-5
https://doi.org/10.1007/s00439-005-1300-5