Sv2a cDNA ORF clone, Mus musculus(house mouse)

KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects.
Bowerman M, Salsac C, Bernard V, Soulard C, Dionne A, Coque E, Benlefki S, Hince P, Dion PA, Butler-Browne G, Camu W, Bouchard JP, Delpire E, Rouleau GA, Raoul C, Scamps F
Neurobiology of disease10635-48(2017 Oct)

Multiple roles of integrin-?3 at the neuromuscular junction.
Ross JA, Webster RG, Lechertier T, Reynolds LE, Turmaine M, Bencze M, Jamshidi Y, Cetin H, Muntoni F, Beeson D, Hodilvala-Dilke K, Conti FJ
Journal of cell science130(10)1772-1784(2017 May)

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
American journal of human genetics100(5)706-724(2017 May)

The familial dysautonomia disease gene
Chaverra M, George L, Mergy M, Waller H, Kujawa K, Murnion C, Sharples E, Thorne J, Podgajny N, Grindeland A, Ueki Y, Eiger S, Cusick C, Babcock AM, Carlson GA, Lefcort F
Disease models & mechanisms10(5)605-618(2017 May)

This study reveals fundamental details of how phosphorylation of Thr84 on SV2A controls its interaction with synaptotagmin-1 and implicates SV2A as a phospho-dependent chaperone
Title: Phosphorylation of synaptic vesicle protein 2A at Thr84 by casein kinase 1 family kinases controls the specific retrieval of synaptotagmin-1.

observed alterations of SV2A expression in hippocampus are consistent with the hypothesis that SV2A absence favors epileptic seizures around postnatal day 7
Title: Expression of SV2 isoforms during rodent brain development.

Action potential- and Ca(2+) -dependent glutamatergic & GABAergic synaptic transmission are differentially altered in the hippocampus of SV2A-deficient mice, but the mechanism of exocytosis itself is not changed.
Title: Altered balance between excitatory and inhibitory inputs onto CA1 pyramidal neurons from SV2A-deficient but not SV2B-deficient mice.

Glycosylation is dispensable for sorting of synaptotagmin 1 but is critical for targeting of SV2 and synaptophysin to recycling synaptic vesicles.
Title: Glycosylation is dispensable for sorting of synaptotagmin 1 but is critical for targeting of SV2 and synaptophysin to recycling synaptic vesicles.

study suggests that SV2A specifically regulates hilar GABAergic neurotransmission in the kindled hippocampus probably as a compensatory or prophylactic mechanism against kindling epileptogenesis
Title: Kindling-associated SV2A expression in hilar GABAergic interneurons of the mouse dentate gyrus.