Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Reiko, Fujinawa"'
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-9 (2024)
Abstract NGLY1 deficiency is a genetic disease caused by biallelic mutations of the Ngly1 gene. Although epileptic seizure is one of the most severe symptoms in patients with NGLY1 deficiency, preclinical studies have not been conducted due to the la
Externí odkaz:
https://doaj.org/article/af6ac118a0734d2081d884d851b53a76
Autor:
Makoto Asahina, Reiko Fujinawa, Hiroto Hirayama, Ryuichi Tozawa, Yasushi Kajii, Tadashi Suzuki
Publikováno v:
Molecular Brain, Vol 14, Iss 1, Pp 1-12 (2021)
Abstract N-glycanase 1 (NGLY1) deficiency is a rare inherited disorder characterized by developmental delay, hypolacrima or alacrima, seizure, intellectual disability, motor deficits, and other neurological symptoms. The underlying mechanisms of the
Externí odkaz:
https://doaj.org/article/a8c595188b1343ea9241c197d3bf8bbd
Autor:
Makoto Asahina, Reiko Fujinawa, Hiroto Hirayama, Ryuichi Tozawa, Yasushi Kajii, Tadashi Suzuki
Publikováno v:
Molecular Brain, Vol 14, Iss 1, Pp 1-2 (2021)
Externí odkaz:
https://doaj.org/article/7053b59eefd14fc4b3d8f7fe6f31e4d5
Autor:
Chengcheng Huang, Junichi Seino, Haruhiko Fujihira, Keiko Sato, Reiko Fujinawa, Zeynep Sumer-Bayraktar, Nozomi Ishii, Ichiro Matsuo, Shuichi Nakaya, Tadashi Suzuki
Publikováno v:
Glycobiology. 32:314-332
Recent studies demonstrated the occurrence of sialyl free N-glycans (FNGs) in sera from a variety of animals. Unlike the intracellular FNGs that mainly carry a single N-acetylglucosamine at their reducing termini (Gn1-type), these extracellular FNGs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fae6c2098167c19c009e686e4ef06ca
https://doi.org/10.1093/glycob/cwab124
https://doi.org/10.1093/glycob/cwab124
Autor:
Yasuhiko Kizuka, Shinobu Kitazume, Reiko Fujinawa, Takashi Saito, Nobuhisa Iwata, Takaomi C Saido, Miyako Nakano, Yoshiki Yamaguchi, Yasuhiro Hashimoto, Matthias Staufenbiel, Hiroyuki Hatsuta, Shigeo Murayama, Hiroshi Manya, Tamao Endo, Naoyuki Taniguchi
Publikováno v:
EMBO Molecular Medicine, Vol 7, Iss 2, Pp 175-189 (2015)
Abstract The β‐site amyloid precursor protein cleaving enzyme‐1 (BACE1), an essential protease for the generation of amyloid‐β (Aβ) peptide, is a major drug target for Alzheimer's disease (AD). However, there is a concern that inhibiting BAC
Externí odkaz:
https://doaj.org/article/fb5d8482b98245c9b451c84618505b64
Autor:
Reiko Fujinawa, Ryuichi Tozawa, Tadashi Suzuki, Hiroto Hirayama, Yasushi Kajii, Makoto Asahina
Publikováno v:
Molecular Brain, Vol 14, Iss 1, Pp 1-12 (2021)
Molecular Brain
Molecular Brain
N-glycanase 1 (NGLY1) deficiency is a rare inherited disorder characterized by developmental delay, hypolacrima or alacrima, seizure, intellectual disability, motor deficits, and other neurological symptoms. The underlying mechanisms of the NGLY1 phe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fc00ebfed4da698cb589b0b38e87732
https://doaj.org/article/a8c595188b1343ea9241c197d3bf8bbd
https://doaj.org/article/a8c595188b1343ea9241c197d3bf8bbd
Autor:
Makoto Asahina, Yuki Masahara-Negishi, Tadashi Suzuki, Haruhiko Fujihira, Tomohiro Andou, Ryuichi Tozawa, Reiko Fujinawa
Publikováno v:
Proceedings of the Japan Academy, Series B. 97:89-102
N-Glycanase 1 (NGLY1) deficiency is a congenital disorder caused by mutations in the NGLY1 gene. Because systemic Ngly1-/- mice with a C57BL/6 (B6) background are embryonically lethal, studies on the mechanism of NGLY1 deficiency using mice have been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a2eeb0b6666671964d5e85318d8dfa02
https://doi.org/10.2183/pjab.97.005
https://doi.org/10.2183/pjab.97.005
Autor:
Makoto Asahina, Sayuri Nakamura, Ryuichi Tozawa, Reiko Fujinawa, Kotaro Yokoyama, Tadashi Suzuki
Publikováno v:
Human Molecular Genetics
N-glycanase 1 (NGLY1) deficiency, an autosomal recessive disease caused by mutations in the NGLY1 gene, is characterized by developmental delay, hypolacrima or alacrima, seizure, intellectual disability, movement disorders and other neurological phen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fd6e761d515e038126454ed5aa2ab2e
https://doi.org/10.1093/hmg/ddaa059
https://doi.org/10.1093/hmg/ddaa059
Autor:
Tadashi Suzuki, Makoto Asahina, Hiroto Hirayama, Reiko Fujinawa, Ryuichi Tozawa, Yasushi Kajii
Publikováno v:
Molecular Brain, Vol 14, Iss 1, Pp 1-2 (2021)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adbbf8c1afc008ab5b225c3de3d5d2aa
https://doi.org/10.1186/s13041-021-00825-3
https://doi.org/10.1186/s13041-021-00825-3
Autor:
Yukiko, Yoshida, Makoto, Asahina, Arisa, Murakami, Junko, Kawawaki, Meari, Yoshida, Reiko, Fujinawa, Kazuhiro, Iwai, Ryuichi, Tozawa, Noriyuki, Matsuda, Keiji, Tanaka, Tadashi, Suzuki
Publikováno v:
Proc Natl Acad Sci U S A
Mutations in the human peptide:N-glycanase gene (NGLY1), which encodes a cytosolic de–N-glycosylating enzyme, cause a congenital autosomal recessive disorder. In rodents, the loss of Ngly1 results in severe developmental delay or lethality, but the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f99856f479a40fe48f3db6cbf1379944
https://pubmed.ncbi.nlm.nih.gov/34215698
https://pubmed.ncbi.nlm.nih.gov/34215698