Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, developmental delay, and hypopigmentation. Mutations in EPG5, a gene that encodes a ke...

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Wydane w:Sci Rep
Główni autorzy: Hori, Ikumi, Otomo, Takanobu, Nakashima, Mitsuko, Miya, Fuyuki, Negishi, Yutaka, Shiraishi, Hideaki, Nonoda, Yutaka, Magara, Shinichi, Tohyama, Jun, Okamoto, Nobuhiko, Kumagai, Takeshi, Shimoda, Konomi, Yukitake, Yoshiya, Kajikawa, Daigo, Morio, Tomohiro, Hattori, Ayako, Nakagawa, Motoo, Ando, Naoki, Nishino, Ichizo, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Saitsu, Hirotomo, Kanemura, Yonehiro, Yamasaki, Mami, Kosaki, Kenjiro, Matsumoto, Naomichi, Yoshimori, Tamotsu, Saitoh, Shinji
Format: Artigo
Język:Inglês
Wydane: Nature Publishing Group UK 2017
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Article
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5471274/
https://ncbi.nlm.nih.gov/pubmed/28615637
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-02840-8
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