Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Kiyoshi Iwabuchi"'
Autor:
Junko Takahashi, Hiroto Fujigasaki, Kiyoshi Iwabuchi, Amalia C Bruni, Toshiki Uchihara, Khalid H El Hachimi, Giovanni Stevanin, Alexandra Dürr, Anne-Sophie Lebre, Yvon Trottier, Hugues de Thé, Junichi Tanaka, Jean-Jacques Hauw, Charles Duyckaerts, Alexis Brice
Publikováno v:
Neurobiology of Disease, Vol 13, Iss 3, Pp 230-237 (2003)
In polyglutamine diseases, accumulation in the nucleus of mutant proteins induces the formation of neuronal intranuclear inclusions (NIIs). The nucleus is compartmentalized into structural and functional domains, which are involved in NII formation.
Externí odkaz:
https://doaj.org/article/06481b26a6f34658a4f14a15f16966d2
Publikováno v:
Neuropathology : official journal of the Japanese Society of NeuropathologyREFERENCES. 42(5)
Spinocerebellar degenerations (SCDs) are a diverse group of rare and slowly progressive neurological diseases that include spinocerebellar ataxia type 1 (SCA1), SCA2, SCA3, SCA6, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA) and multiple system
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b6172cc99a3a220fc6b66e270e87d30
https://pubmed.ncbi.nlm.nih.gov/35859519
https://pubmed.ncbi.nlm.nih.gov/35859519
Autor:
Kenji Kosaka, Keiko Yamaoka, Ayako Nakamura, Miyako Ishiyama, Saburo Yagishita, Kiyoshi Iwabuchi, Katsuhiko Shibuya, Toshiki Uchihara
Publikováno v:
Acta Neuropathologica. 105:508-514
Tau-like immunoreactivity (IR) on glial cytoplasmic inclusions (GCIs) of multiple system atrophy (MSA) was investigated with a panel of anti-tau antibodies and we found that tau2, one of the phosphorylation-independent antibodies, preferentially immu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad9c6d036ba953d3cdb27b1a31e95b07
https://doi.org/10.1007/s00401-003-0675-4
https://doi.org/10.1007/s00401-003-0675-4
Autor:
Tatsuya Takahashi, Tetsuo Sakai, Hideki Nagatomo, Izumi Kawachi, Masatoyo Nishizawa, Osamu Onodera, Kiyoshi Iwabuchi, Yoshiki Sekijima, Kayoko Saito, Hajime Tanaka, Yoshihisa Takiyama, Tatsuhiko Yuasa, Sumio Sugano, Yutaka Awaya, Shuichi Igarashi, Tadashi Hiroi, Shoji Tsuji, Ryoko Koike, Hidetoshi Date, Kazutoshi Uekawa, Nobuyoshi Fukuhara
Publikováno v:
Nature Genetics. 29:184-188
Friedreich ataxia (FRDA), the most common autosomal recessive neurodegenerative disease among Europeans and people of European descent, is characterized by an early onset (usually before the age of 25), progressive ataxia, sensory loss, absence of te
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92a37d694b1243b92adc9b14cf31e778
https://doi.org/10.1038/ng1001-184
https://doi.org/10.1038/ng1001-184
Autor:
Kinya Ishikawa, Shuta Toru, Shigeru Koyano, Saburo Yagishita, Tsutomu Tanabe, Takao Makifuchi, Toshiki Uchihara, Kiyoshi Iwabuchi, Shunsaku Hirai, Hidehiro Mizusawa, Kazuyuki Ishida, Hiroto Fujigasaki, Ayako Nakamura
Publikováno v:
Experimental Neurology. 165:248-256
Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) is one of the dominantly inherited cerebellar ataxias. The gene responsible for the disease, a novel gene of unknown function, encodes ataxin-3 containing a polyglutamine stretch. Alth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03e1c15a12784af00e210a3ea60979cf
https://doi.org/10.1006/exnr.2000.7479
https://doi.org/10.1006/exnr.2000.7479
Autor:
Masayuki Inoue, Hideki Nagatomo, Kiyoshi Iwabuchi, Saburo Yagishita, Y. Itoh, Katsuhiko Shibuya
Publikováno v:
Journal of the Neurological Sciences. 179:50-58
This report concerns a rare association of asymmetrical temporal lobe atrophy with multiple system atrophy (MSA). A 53-year-old Japanese woman developed cerebellar ataxia and parkinsonism and was diagnosed as olivopontocerebellar atrophy (OPCA). This
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3764774fced3051c93aeacf5928f28c
https://doi.org/10.1016/s0022-510x(00)00364-6
https://doi.org/10.1016/s0022-510x(00)00364-6
Autor:
Kunio Tashiro, Hidenao Sasaki, Yoshiko Nomura, Y Ishida, I. Eguchi, N Shimizu, Hitoshi Takahashi, Akemi Wakisaka, Hiroki Takano, Yoshihisa Takiyama, Toshihisa Tanaka, Masatoyo Nishizawa, Hirosato Tanaka, Masaya Segawa, Kiyoshi Iwabuchi, Takeshi Ikeuchi, S Hanyu, Shoji Tsuji, Masaaki Saito, Aki Sato, Kazuhiro Sanpei, Tomoe Sato, Shuichi Igarashi, Reiji Koide, Mutsuo Oyake
Publikováno v:
Nature Genetics. 14:277-284
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant, neurodegenerative disorder that affects the cerebellum and other areas of the central nervous system. We have devised a novel strategy, the direct identification of repeat expansion and c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ecd010130eca36f57e7174a944e3eb5
https://doi.org/10.1038/ng1196-277
https://doi.org/10.1038/ng1196-277
Autor:
Shuichi Igarashi, Jean Weissenbach, James L. Weber, Masatoyo Nishizawa, Keiko Onari, Shoji Tsuji, Kazuhiro Sanpei, Hidenao Sasaki, Kotaro Endo, Hajime Tanaka, Masaya Segawa, Kiyoshi Iwabuchi, Yoshihisa Takiyama, Masaaki Saito, Akemi Wakisaka, Yoshihiro Suzuki, Yoshiko Nomura, Tomokazu Suzuki
Publikováno v:
American Journal of Medical Genetics. 67:437-444
To identify the markers tightly linked to Machado-Joseph disease (MJD) and to investigate whether a limited number of ancestral chromosomes are shared by Japanese MJD pedigrees, a detailed linkage analysis employing D14S55, D14S48, D14S67, D14S291, D
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87d947592803cfa9e622930d79f37dc9
https://doi.org/10.1002/(sici)1096-8628(19960920)67:5<437::aid-ajmg1>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960920)67:5<437::aid-ajmg1>3.0.co
Autor:
Tetsuyuki Kitamoto, Kohei Ogino, Tatsuo Kogure, Haruo Kashima, Jun Tateishi, Kiyoshi Iwabuchi, Tsukasa Mitsuhashi, Itaru Tominaga, Yuji Kato, Kiyoshi Yanai, Koji Hori, Chie Haga, Eiichi Oguni, Tatsuro Oda
Publikováno v:
Acta Neuropathologica. 90:80-86
We describe an insert mutation in the prion protein (PrP) gene in a Japanese family line that encodes six octapeptide repeats. This is the second report to date of an inherited prion disease with a 144-base pair insertion, although the order of the r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4343a3fb10cc5f242813dea2351a4239
https://doi.org/10.1007/bf00294463
https://doi.org/10.1007/bf00294463
Autor:
Takeshi Hamada, Kunio Tashiro, Hidenao Sasaki, Toshiyuki Fukazawa, Takashi Yoshiki, Yoshihiro Suzuki, Akemi Wakisaka, Akio Takada, Kiyoshi Iwabuchi
Publikováno v:
Japanese journal of human genetics. 40:131-143
SCA1 is caused by expansion of an unstable CAG triplet repeat in a novel gene located on the short arm of chromosome 6. In 126 Japanese individuals from 12 pedigrees with SCA1, studies were done to determine if they carried this mutant gene. All the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5beecd691da71f9cbc24422d1d935e65
https://doi.org/10.1007/bf01874077
https://doi.org/10.1007/bf01874077