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    Article

    Modeling sporadic ALS in iPSC-derived motor neurons identifies a potential therapeutic agent

    Amyotrophic lateral sclerosis (ALS) is a heterogeneous motor neuron disease for which no effective treatment is available, despite decades of research into SOD1-mutant familial ALS (FALS). The majority of ALS pat...

    Koki Fujimori, Mitsuru Ishikawa, Asako Otomo, Naoki Atsuta in Nature Medicine (2018)

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    Open Access

    Suppression of dynamin GTPase decreases α-synuclein uptake by neuronal and oligodendroglial cells: a potent therapeutic target for synucleinopathy

    The intracellular deposition of misfolded proteins is a common neuropathological hallmark of most neurodegenerative disorders. Increasing evidence suggests that these pathogenic proteins may spread to neighbor...

    Masatoshi Konno, Takafumi Hasegawa, Toru Baba, Emiko Miura in Molecular Neurodegeneration (2012)

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    Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

    Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome are autosomal dominant disorders characterized by heart defects, facial dysmorphism, ectodermal abnormalities, and mental retardation. There is a...

    Yoko Narumi, Yoko Aoki, Tetsuya Niihori, Masahiro Sakurai in Journal of Human Genetics (2008)