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PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P. Hall EA, et al. Among authors: kulathu y. Am J Hum Genet. 2017 May 4;100(5):706-724. doi: 10.1016/j.ajhg.2017.03.008. Epub 2017 Apr 13. Am J Hum Genet. 2017. PMID: 28413018 Free PMC article.
Linking K29-Ub chains to biology.
Lange SM, Kulathu Y. Lange SM, et al. Among authors: kulathu y. Nat Chem Biol. 2021 Aug;17(8):843-844. doi: 10.1038/s41589-021-00833-3. Nat Chem Biol. 2021. PMID: 34239126 No abstract available.
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