PMC Links for OMIM (Select 609894) - PMC

Select item 75406071.

The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis

Harold H. G. Tan, Henk‐Jan Westeneng, Hannelore K. van der Burgh, Michael A. van Es, Leonhard A. Bakker, Kevin van Veenhuijzen, Kristel R. van Eijk, Ruben P. A. van Eijk, Jan H. Veldink, Leonard H. van den Berg

Ann Neurol. 2020 Oct; 88(4): 796–806. Published online 2020 Jul 20. doi: 10.1002/ana.25841

PMCID:: PMC7540607

Abstract Article PDF–510K

Select item 53307402.

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

Noa Lipstein, Nanda M. Verhoeven-Duif, Francesco E. Michelassi, Nathaniel Calloway, Peter M. van Hasselt, Katarzyna Pienkowska, Gijs van Haaften, Mieke M. van Haelst, Ron van Empelen, Inge Cuppen, Heleen C. van Teeseling, Annemieke M.V. Evelein, Jacob A. Vorstman, Sven Thoms, Olaf Jahn, Karen J. Duran, Glen R. Monroe, Timothy A. Ryan, Holger Taschenberger, Jeremy S. Dittman, Jeong-Seop Rhee, Gepke Visser, Judith J. Jans, Nils Brose

J Clin Invest. 2017 Mar 1; 127(3): 1005–1018. Published online 2017 Feb 13. doi: 10.1172/JCI90259

PMCID:: PMC5330740

Abstract Article PDF–1.0M

Select item 50175403.

Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia

Andrew G. Engel, Duygu Selcen, Xin-Ming Shen, Margherita Milone, C. Michel Harper

Neurol Genet. 2016 Oct; 2(5): e105. Published online 2016 Sep 8. doi: 10.1212/NXG.0000000000000105

PMCID:: PMC5017540

Abstract Article PDF–494K

Select item 21738114.

Cast: a novel protein of the cytomatrix at the active zone of synapses that forms a ternary complex with RIM1 and munc13-1

Toshihisa Ohtsuka, Etsuko Takao-Rikitsu, Eiji Inoue, Marie Inoue, Masakazu Takeuchi, Kaho Matsubara, Maki Deguchi-Tawarada, Keiko Satoh, Koji Morimoto, Hiroyuki Nakanishi, Yoshimi Takai

J Cell Biol. 2002 Aug 5; 158(3): 577–590. doi: 10.1083/jcb.200202083

PMCID:: PMC2173811

Abstract Article PDF–684K

Select item 21723325.

Physical and functional interaction of the active zone proteins, CAST, RIM1, and Bassoon, in neurotransmitter release

Etsuko Takao-Rikitsu, Sumiko Mochida, Eiji Inoue, Maki Deguchi-Tawarada, Marie Inoue, Toshihisa Ohtsuka, Yoshimi Takai

J Cell Biol. 2004 Jan 19; 164(2): 301–311. doi: 10.1083/jcb.200307101

PMCID:: PMC2172332

Abstract Article PDF–598K

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