Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Fumiko, Matsuzawa"'
Publikováno v:
Ophthalmic Genetics. 41:599-605
The responsible genetic variants for occult macular dystrophy (OMD) were found at the predicted intrinsically disordered region (IDR) of the RP1L1 gene. We examined the phenotypes and genotypes of ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4be8a543d98531fe49ca60ca71e119ff
https://doi.org/10.1080/13816810.2020.1821383
https://doi.org/10.1080/13816810.2020.1821383
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
Autor:
Hiroko Kadowaki, Susumu Kanzaki, Fumiko Matsuzawa, Nobuhiro Shojima, Toshimasa Yamauchi, Seiichi Aikawa, Yuki Kawashima-Sonoyama, Fuyuki Miya, Yukinori Okada, Jun Hosoe, Takashi Kadowaki, Ken Suzuki, Keiichi Hanaki, Tatsuhiko Tsunoda, Takashi Kato
Publikováno v:
Diabetes. 70(8)
We previously reported 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 and p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a459a3aab1a4bb530f3fa42fcef9c48
https://pubmed.ncbi.nlm.nih.gov/34074726
https://pubmed.ncbi.nlm.nih.gov/34074726
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:
Takashi Kato, Katsuya Aizu, Yukinori Okada, Jun Hosoe, Jun Yoshimura, Masaomi Nangaku, Hironori Waki, Natsumi Yamamura, Hiroyuki Ishiura, Kenjiro Honda, Hiroko Kadowaki, Seiichi Aikawa, Shoji Tsuji, Takashi Kadowaki, Masaki Tanaka, Fumiko Matsuzawa, Keith A. Boroevich, Fuyuki Miya, Tatsuhiko Tsunoda, Shinichi Morishita, Toyofumi Fujiwara, Makoto Kurano, Takayoshi Sasako, Kazuo Hara, Nobuhiro Shojima, Fusako Sasaki, Toshimasa Yamauchi, Ken Suzuki
Publikováno v:
Diabetes research and clinical practice. 169
Aims Monogenic diabetes is clinically heterogeneous and differs from common forms of diabetes (type 1 and 2). We aimed to investigate the clinical usefulness of a comprehensive genetic testing system, comprised of targeted next-generation sequencing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::120c8f6880e8a8f67648600b28af0aa7
https://pubmed.ncbi.nlm.nih.gov/32971154
https://pubmed.ncbi.nlm.nih.gov/32971154
Publikováno v:
Biochimica et biophysica acta. Molecular and cell biology of lipids. 1865(10)
Side-chain oxysterols produced from cholesterol either enzymatically or non-enzymatically show various bioactivities. Lecithin-cholesterol acyltransferase (LCAT) esterifies the C3-hydroxyl group of these sterols as well as cholesterol. Lysosomal phos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f85ac9cc0ff2557d5b11c9d418af1bc
https://pubmed.ncbi.nlm.nih.gov/32777483
https://pubmed.ncbi.nlm.nih.gov/32777483
Autor:
Yasunori Chiba, Juan Cui, Xiao-Dong Gao, Yuanling Jia, Seiichi Aikawa, Fumiko Matsuzawa, Akiko Komatsuzaki, Toshihiko Kitajima
Publikováno v:
Journal of bioscience and bioengineering. 125(2)
Endo-β-N-acetylglucosaminidase from the methylotrophic yeast Ogataea minuta (Endo-Om) is a glycoside hydrolase family 85 enzyme that has dual catalytic activity in the hydrolysis and transglycosylation of complex N-glycans, in common with the enzyme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::587d519a4c71ede971fb427d11dfe8b0
https://pubmed.ncbi.nlm.nih.gov/28903882
https://pubmed.ncbi.nlm.nih.gov/28903882
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
Autor:
Yasunori Chiba, Kohji Itoh, Fumiko Matsuzawa, Hitoshi Sakuraba, Makoto Sawada, Seiichi Aikawa, Yoshifumi Jigami
Publikováno v:
CNS & Neurological Disorders - Drug Targets. 5:401-413
Lysosomal diseases comprise a group of inherited disorders resulting from defects of lysosomal enzymes and their cofactors, and in many of them the nervous system is affected. Recently, enzyme replacement therapy with recombinant lysosomal enzymes ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb470c1df0ecd820ed0b874f911c106e
https://doi.org/10.2174/187152706777950738
https://doi.org/10.2174/187152706777950738