Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones
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چکیده
منابع مشابه
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641 The Rockefeller University Press $30.00 J. Cell Biol. Vol. 214 No. 6 641–643 www.jcb.org/cgi/doi/10.1083/jcb.201608060 Early infantile epileptic encephalopathy (EIEE), also known as Ohtahara syndrome, is a debilitating neurological disorder that results in early-onset tonic seizures and severe intellectual disability. Heterozygous mutations in MUNC18-1 (also known as syntaxin binding protei...
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ژورنال
عنوان ژورنال: Nature Communications
سال: 2018
ISSN: 2041-1723
DOI: 10.1038/s41467-018-06507-4