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Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder
UNC13A rs12608932 is a risk factor for ALS and a modifying factor for survival and disease progression rate in a Spanish cohort.
Munc13-1, on account of its role in both insulin (show INS ELISA Kits) and neurotransmitter exocytosis and through its binding properties, may be an important factor contributing to the development or progression of diabetic neuropathy.
UNC13A provides a novel link between amyotrophic lateral sclerosis and frontotemporal dementia and identifies changes in neurotransmitter release and synaptic function as a converging mechanism in the pathogenesis of ALS (show IGFALS ELISA Kits) and FTD (show FTL ELISA Kits)-TDP.
CAPS1 (show CAPS ELISA Kits) binds to the full-length of cytoplasmic syntaxin-1 (show STX1A ELISA Kits) with preference to its "open" conformation, whereas Munc13-1 binds to the first 80 N-terminal residues of syntaxin-1 (show STX1A ELISA Kits).
This study demonistrated that UNC13A influences survival in Italian amyotrophic lateral sclerosis patients.
Our results further corroborate the role of UNC13A in amyotrophic lateral sclerosis pathogenesis.
Here, we report that, like Rab3A (show RAB3A ELISA Kits), RIM (show RBBP8 ELISA Kits) and Munc13 (show UNC13B ELISA Kits) are present in human sperm and that they play a functional role in acrosomal exocytosis before the acrosomal calcium efflux
Results do not provide evidence of an association between a variant in the UNC13A gene and susceptibility to sporadic Amyotrophic lateral sclerosis in a French homogeneous population.
rs12608932 Single Nucleotide Polymorphism is located at 19p13.3 and maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters such as glutamate (show GRIN1 ELISA Kits) at neuromuscular synapses.
SIGNIFICANCE STATEMENT: DBA (show RPS19 ELISA Kits)/2J and C57BL/6J mice have been used to understand the genetic mechanisms controlling behaviors related to a number of psychiatric illnesses. However, the fundamental neurobiological mechanisms producing these behavioral characteristics remain unresolved. Here we identify a critical family of presynaptic proteins differentially expressed by these strains that control strain-dependent synaptic ph
Munc13-2 (show UNC13B ELISA Kits) is recruited to synapses by the AZ protein ELKS1.
Munc13-2 (show UNC13B ELISA Kits) plays a fundamental role in large dense-core vesicle exocytosis, but in contrast to synapses lacking Munc13s, the corresponding chromaffin cells do not exhibit a vesicle docking defect.
Data demonstrate that Munc13-1 and DOC2B (show DOC2B ELISA Kits) have different effects on network activity and that by enhancing asynchronous release, DOC2B (show DOC2B ELISA Kits) exerts its properties to increase spiking activity and elevate synchronization between neurons within network bursts
Munc13-1 isoform is functionaly redundant in cytotoxic T lymphocytes.
betaARs couple to a cAMP/Epac (show RAPGEF3 ELISA Kits)/PLC (show HSPG2 ELISA Kits)/Munc13-1/Rab3a (show RAB3A ELISA Kits)/RIM1a (show RIMS1 ELISA Kits)-dependent pathway to enhance glutamate (show GRIN1 ELISA Kits) release at cerebrocortical nerve terminals.
Our data establish Munc13-1 as a major presynaptic target of Ca(2 (show CA2 ELISA Kits)+)-Calmodulin signaling and show that the Ca(2 (show CA2 ELISA Kits)+)-Calmodulin-Munc13-1 complex is a pivotal component of the molecular machinery that determines short-term synaptic plasticity characteristics.
The Munc13 (show UNC13B ELISA Kits) gene family encodes molecules located at the synaptic active zone that regulate the reliability of synapses to encode information over a wide range of frequencies in response to action potentials.
This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis.
protein unc-13 homolog A
, UNC-13 homolog 1
, protein unc-13 homolog B
, unc-13 homolog A
, unc13 homolog 1