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254:. Immune-mediated cerebellar ataxias represent a group of disorders causing cerebellar ataxia induced by a dysfunction of synapses. Increasing knowledge of the genetic basis of these diseases has linked proteins to the function of the synapse. Age-related cochlear synaptic and neural degeneration has also been demonstrated in mice.
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Jha, Saurabh Kumar; Jha, Niraj Kumar; Kumar, Dhiraj; Sharma, Renu; Shrivastava, Abhishek; Ambasta, Rashmi K.; Kumar, Pravir (2017). "Stress-induced synaptic dysfunction and neurotransmitter release in
Alzheimer's Disease: Can neurotransmitters and neuromodulators be potential therapeutic targets?".
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Another example of synaptopathy occurs in the auditory system. This cochlear synaptopathy has been seen after prolonged noise exposure in both primate and non-primate models. Two possible reasons for this neuronal death are both glutamate-mediated
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Ruel, Jérôme; Wang, Jing; Rebillard, Guy; Eybalin, Michel; Lloyd, Ruth; Pujol, Rémy; Puel, Jean-Luc (May 2007). "Physiology, pharmacology and plasticity at the inner hair cell synaptic complex".
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Mark, Leighton P; Prost, Robert W; Ulmer, John L; Smith, Michelle M; Daniels, David L; Strottmann, James M; Brown, W Douglas; Hacein-Bey, Lotfi (November 2001).
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affect neurotransmitter release. Tetanus toxin can enter the body via a wound, and botulinum toxin can be ingested or administered therapeutically to alleviate
476:
Wang, Xinxing; Kery, Rachel; Xiong, Qiaojie (June 2018). "Synaptopathology in autism spectrum disorders: Complex effects of synaptic genes on neural circuits".
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result in varying degrees of cellular and behavioural abnormalities. Additional molecules thought to be involved include SynGAP and
614:"Fundamental Mechanisms of Autoantibody-Induced Impairments on Ion Channels and Synapses in Immune-Mediated Cerebellar Ataxias"
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leads to an increase in free intracellular calcium, which produces oxygen free-radicals and eventually neuronal dysfunction.
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421:"Excitotoxicity, synaptic repair, and functional recovery in the mammalian cochlea: a review of recent findings"
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Synaptopathies are attracting research interest because they provide an insight into fundamental mechanisms of
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Brose, Nils; O'Connor, Vincent; Skehel, Paul (April 2010). "Synaptopathy: dysfunction of synaptic function?".
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in the postsynaptic terminal, and presynaptic ribbon damage which occurs by an unknown mechanism.
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Valero, MD; Burton, JA; Hauser, SN; Hackett, TA; Ramachandran, R; Liberman, MC (September 2017).
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665:"Age-related cochlear synaptopathy: an early-onset contributor to auditory functional decline"
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Sergeyenko, Yevgeniya; Lall, Kumud; Liberman, M Charles; Kujawa, Sharon G (21 August 2013).
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Some diseases of unknown etiology have been proposed to be synaptopathies. Examples include
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act as translational repressor thus when ablated such as in
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Mitoma, H.; Honnorat, J.; Yamaguchi, K.; Manto, M. (2020).
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synaptopathy. Some toxins also affect synaptic function.
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targeting a synaptic protein. Synaptopathies caused by
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527:Hayashi-Takagi, Akiko (January 2017).
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192:mutations are also known as synaptic
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