Explanipedia

An acyclic nucleic acid-modified siRNA targeting CAG expansions for polyglutamine disease treatment Open

Kentaro Maeda, Tomoki Hirunagi, Kentaro Sahashi, Yukiko Kamiya, Madoka Iida , et al. · 2025

Dysregulated synaptic gene expression in oligodendrocytes of spinal and bulbar muscular atrophy Open

Madoka Iida, Kentaro Sahashi, Tomoki Hirunagi, Kenji Sakakibara, Kentaro Maeda , et al. · 2025

Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by an expanded CAG repeat in the androgen receptor (AR) gene. To elucidate the cell type-specific temporal gene expression in SBMA, we performed single-nucleus RNA…

Label-free morphology-based phenotypic analysis of spinal and bulbar muscular atrophy muscle cell models Open

Kenji Sakakibara, Kenjiro Tanaka, Madoka Iida, Yuta Imai, Mai Okada , et al. · 2025

Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder caused by CAG trinucleotide expansion in the androgen receptor (AR) gene. To improve the quality of in vitro cell-based assays for the evaluation of potential drug candi…

Label-free morphology-based phenotypic analysis of spinal and bulbar muscular atrophy muscle cell models Open

Kenji Sakakibara, Kenjiro Tanaka, Yuta Imai, Mai Okada, Madoka Iida , et al. · 2024

Background Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder caused by a CAG trinucleotide expansion in the androgen receptor (AR) gene. The pathogenesis of SBMA is not fully understood and there are less effective trea…

Restoration of early postnatal synaptic dysregulation rescues polyglutamine-mediated motor neuron degeneration in mice Open

Masahisa Katsuno, Tomoki Hirunagi, Kentaro Sahashi, Madoka Iida, Yusuke Ogura , et al. · 2024

Spinal and bulbar muscular atrophy (SBMA) is an adult-onset neurodegenerative disorder caused by the expansion of a polyglutamine tract in the androgen receptor (AR). Here, we show that polyglutamine-expanded AR accumulates in the nucleus …

Dysregulated synaptic gene expression in oligodendrocytes of spinal and bulbar muscular atrophy Open

Madoka Iida, Kentaro Sahashi, Tomoki Hirunagi, Kenji Sakakibara, Kentaro Maeda , et al. · 2024

Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by an expanded CAG repeat in the androgen receptor ( AR ) gene. To elucidate the cell type-specific temporal gene expression in SBMA, we performed single-nucleus R…

Exercise attenuates polyglutamine‐mediated neuromuscular degeneration in a mouse model of spinal and bulbar muscular atrophy Open

Tomoki Hirunagi, Hideaki Nakatsuji, Kentaro Sahashi, Mikiyasu Yamamoto, Madoka Iida , et al. · 2023

Background Spinal and bulbar muscular atrophy (SBMA) is a hereditary neuromuscular disorder caused by the expansion of trinucleotide cytosine–adenine–guanine (CAG) repeats, which encodes a polyglutamine (polyQ) tract in the androgen recept…

Acute bilateral hypotropia and esotropia complex as first manifestation of multiple sclerosis: a case report. Open

Joe Senda, Ryota Hirao, Kentaro Maeda, Yoshinobu Amakusa, Tomoki Hirunagi , et al. · 2023

A 21-year-old Japanese woman presented with sudden eye movement disorders. An ophthalmic examination revealed bilateral hypotropia and esotropia complex. Brain magnetic resonance imaging revealed abnormal signals in the posterior and media…

Characteristic variables of acute ischemic stroke categorized according to body mass index classifications Open

Joe Senda, Yoshinobu Amakusa, Tomoki Hirunagi, Ruido Ida, H Muro , et al. · 2023

BACKGROUNND We investigated the characteristic variables of acute ischemic stroke categorized according to body mass index (BMI). METHODS From a registry of 1676 consecutive acute ischemic stroke cases, 965 cases (622 men and 434 women; me…

V. Spinal and Bulbar Muscular Atrophy (SBMA) and Bulbar Muscular Atrophy (SMA) Open

Shinichiro Yamada, Tomoki Hirunagi, Kentaro Sahashi, Masahisa Katsuno · 2022

随意運動は主として上位運動ニューロン,下位運動ニューロン,骨格筋により制御されるが,そのうち下位運動ニューロンが選択的に変性する疾患が下位運動ニューロン疾患であり,その代表的なものが球脊髄性筋萎縮症と脊髄性筋萎縮症である.両疾患はいずれも遺伝性疾患であり,分子病態に即した疾患修飾治療法が開発・実用化され,リアルワールドエビデンスの構築に向けた研究も進んでいる.さらに脊髄性筋萎縮症については,新生児スクリーニングによる発症前の診断・治療が進んでいる.

<span>α‐Synuclein V15A</span> Variant in Familial Parkinson's Disease Exhibits a Weaker Lipid‐Binding Property Open

Kensuke Daida, Shotaro Shimonaka, Kahori Shiba‐Fukushima, Jun Ogata, Hiroyo Yoshino , et al. · 2022

Background The α‐Synuclein (α‐Syn) V15A variant has been found in two Caucasian families with Parkinson's disease (PD). However, the significance of this missense variant remained unclear. Objective We sought to elucidate whether V15A coul…

Mid1 is associated with androgen-dependent axonal vulnerability of motor neurons in spinal and bulbar muscular atrophy Open

Yosuke Ogura, Kentaro Sahashi, Tomoki Hirunagi, Madoka Iida, Takaki Miyata , et al. · 2022

Nucleic Acid-Based Therapeutic Approach for Spinal and Bulbar Muscular Atrophy and Related Neurological Disorders Open

Tomoki Hirunagi, Kentaro Sahashi, Katherine G. Meilleur, Masahisa Katsuno · 2022

The recent advances in nucleic acid therapeutics demonstrate the potential to treat hereditary neurological disorders by targeting their causative genes. Spinal and bulbar muscular atrophy (SBMA) is an X-linked and adult-onset neurodegener…

Selective suppression of polyglutamine-expanded protein by lipid nanoparticle-delivered siRNA targeting CAG expansions in the mouse CNS Open

Tomoki Hirunagi, Kentaro Sahashi, Kiyoshi Tachikawa, Angel Leu, Michelle Nguyen , et al. · 2021

Reversible cerebral vasoconstriction syndrome occurring after surgery for uterine cancer with severe anemia: a case report Open

Tomoki Hirunagi, Atsunori Murao, Yoji Goto, Kazuo Mano · 2016

症例は44 歳の女性．片頭痛の既往あり．2012 年8 月上旬下腹部痛を主訴に受診した．Hb 4.7 g/dl と重度の貧血を認め，精査により子宮体癌と診断した．輸血，鉄剤投与により貧血は改善し，9 月下旬に準広汎子宮全摘・両側附属器切除術を施行した．10 月下旬激しい頭痛のため搬送され，MRI で可逆性後頭葉白質脳症の所見を認め入院した．入院後，後頭部から前頭部へ広がる頭痛発作を繰り返した．第6 病日シャワーの湯を頭にかけた瞬間に雷鳴様頭痛が生じ，痙攣後不穏状態となったた…

Subacute cerebellar ataxia with amphiphysin antibody developing in a patient with follicular thyroid adenoma: a case report Open

Tomoki Hirunagi, Katsunori Sato, Masahiko Fujino, Keiko Tanaka, Yoji Goto , et al. · 2016

The patient was a 61-year-old woman with thyroid enlargement since her 20s. She began to fall down repeatedly towards the end of June 2015. She was admitted to our hospital in the middle of August because of difficulty in walking. Upon adm…

Trousseau's Syndrome due to Anaplastic Thyroid Carcinoma Presenting with Multiple Ischemic Strokes Open

Tomoki Hirunagi, Ayami Kiriyama, Masahiko Fujino, Yoji Goto, Kazuo Mano · 2016

Trousseau's syndrome is characterized by a cerebral or systemic thromboembolism caused by coagulation abnormalities in malignancy. We herein report a case of multiple ischemic strokes as the initial manifestation of anaplastic thyroid carc…

<i>Aggregatibacter segnis</i> endocarditis mimicking antineutrophil cytoplasmic antibody-associated vasculitis presenting with cerebral hemorrhage: a case report Open

Tomoki Hirunagi, Hiroshi Kawanishi, Norimasa Mitsuma, Yoji Goto, Kazuo Mano · 2015

A 56-year-old man who underwent a tooth extraction in the previous year presented with weakness of the right upper extremity. Brain CT and MRI scans showed subcortical hemorrhage in the left frontal lobe. His body temperature was 37.5°C. B…

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