Jun Sone
Nagoya University
63 Papers
97 Citations
Jun Sone is an academic researcher from Nagoya University. The author has contributed to research in topics: Medicine & Disease. The author has an hindex of 15, co-authored 39 publications.
Chat about Author
Papers
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
Jun Sone,Satomi Mitsuhashi,Atsushi Fujita,Takeshi Mizuguchi,Kohei Hamanaka,Keiko Mori,Haruki Koike,Akihiro Hashiguchi,Hiroshi Takashima,Hiroshi Sugiyama,Yutaka Kohno,Yoshihisa Takiyama,Kengo Maeda,Hiroshi Doi,Shigeru Koyano,Hideyuki Takeuchi,Michi Kawamoto,Nobuo Kohara,Tetsuo Ando,Toshiaki Ieda,Yasushi Kita,Norito Kokubun,Yoshio Tsuboi,Kazutaka Katoh,Yoshihiro Kino,Masahisa Katsuno,Yasushi Iwasaki,Mari Yoshida,Fumiaki Tanaka,Ikuo K. Suzuki,Martin C. Frith,Naomichi Matsumoto,Gen Sobue,Gen Sobue +33 more
TL;DR: Long-read sequencing identifies a GGC repeat expansion in NOTCH2NLC that is associated with neuronal intranuclear inclusion disease, a progressive neurodegenerative disorder, and results in abnormal anti-sense transcripts that could contribute to disease pathogenesis.
423
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease
Jun Sone,Keiko Mori,Tomonori Inagaki,Ryu Katsumata,Shinnosuke Takagi,Satoshi Yokoi,Kunihiko Araki,Toshiyasu Kato,Tomohiko Nakamura,Haruki Koike,Hiroshi Takashima,Akihiro Hashiguchi,Yutaka Kohno,Takashi Kurashige,Masaru Kuriyama,Yoshihisa Takiyama,Mai Tsuchiya,Naoyuki Kitagawa,Michi Kawamoto,Hajime Yoshimura,Yutaka Suto,Hiroyuki Nakayasu,Naoko Uehara,Hiroshi Sugiyama,Makoto Takahashi,Norito Kokubun,Takuya Konno,Masahisa Katsuno,Fumiaki Tanaka,Yasushi Iwasaki,Mari Yoshida,Gen Sobue +31 more
TL;DR: ‘dementia dominant’ and ‘limb weakness’ subtypes are reported, and consideration of NIID in the differential diagnosis of leukoencephalopathy and neuropathy is recommended.
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease.
Jun Sone,Fumiaki Tanaka,Haruki Koike,Akira Inukai,Masahisa Katsuno,Mari Yoshida,Hirohisa Watanabe,Gen Sobue +7 more
TL;DR: Skin biopsy is an effective and less invasive antemortem diagnostic tool for NIID and the features of the intranuclear inclusions in adipocytes, fibroblasts, and sweat gland cells were identical to those of neuronal cells.
187
Disulfide Bond Mediates Aggregation, Toxicity, and Ubiquitylation of Familial Amyotrophic Lateral Sclerosis-linked Mutant SOD1
Jun-ichi Niwa,Jun-ichi Niwa,Shin-ichi Yamada,Shinsuke Ishigaki,Jun Sone,Miho Takahashi,Masahisa Katsuno,Fumiaki Tanaka,Manabu Doyu,Manabu Doyu,Gen Sobue +10 more
TL;DR: Dorfin ubiquitylated mutant SOD1 by recognizing the Cys6- and Cys111-disulfide cross-linked form and targeted it for proteasomal degradation, thereby promoting its degradation.
173
Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy
Jun Sone,Naoyuki Kitagawa,Eriko Sugawara,Masaaki Iguchi,Ryoichi Nakamura,Haruki Koike,Yasushi Iwasaki,Mari Yoshida,Tatsuya Takahashi,Susumu Chiba,Masahisa Katsuno,Fumiaki Tanaka,Fumiaki Tanaka,Gen Sobue +13 more
TL;DR: This study identified intranuclear inclusions in skin biopsy samples from three sporadic NIID patients who presented with cognitive dysfunction along with notable brain MRIs findings of leukoencephalopathy.
116