A CaV2.1 N-terminal fragment relieves the dominant-negative inhibition by an Episodic ataxia 2 mutant

Autor: Shehrazade Dahimene, Karen M. Page, Manuela Nieto-Rostro, Wendy S. Pratt, Marianna D'Arco, Annette C. Dolphin

Publikováno v: Neurobiology of Disease, Vol 93, Iss , Pp 243-256 (2016)

Episodic ataxia 2 (EA2) is an autosomal dominant disorder caused by mutations in the gene CACNA1A that encodes the pore-forming CaV2.1 calcium channel subunit. The majority of EA2 mutations reported so far are nonsense or deletion/insertion mutations

Externí odkaz: https://doaj.org/article/7f9c96e2028b44edbadf8d67e0de0f2f

RNAi silencing of P/Q-type calcium channels in Purkinje neurons of adult mouse leads to episodic ataxia type 2

Autor: Julie Salvi, Federica Bertaso, Anne-Laure Mausset-Bonnefont, Alexandra Metz, Céline Lemmers, Fabrice Ango, Laurent Fagni, Philippe Lory, Alexandre Mezghrani

Publikováno v: Neurobiology of Disease, Vol 68, Iss , Pp 47-56 (2014)

Episodic ataxia type-2 (EA2) is a dominantly inherited human neurological disorder caused by loss of function mutations in the CACNA1A gene, which encodes the CaV2.1 subunit of P/Q-type voltage-gated calcium channels. It remains however unknown wheth

Externí odkaz: https://doaj.org/article/134a4839fbb746e09ea46831f9f608f2

Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia

Autor: Marina Dusl, Thomas Klopstock, Silvia Belia, Manuela Wiessner, Peter Bauer, Jan Senderek, Claudia Stendel, Marta Cenciarini, Ehsan Nematian-Ardestani, Mauro Pessia, Maria Cristina D'Adamo

Publikováno v: International Journal of Molecular Sciences
Volume 21
Issue 11
International journal of molecular sciences 21(11), 3810-(2020). doi:10.3390/ijms21113810
International Journal of Molecular Sciences, Vol 21, Iss 3810, p 3810 (2020)

Episodic ataxia type 2 (EA2) is characterized by paroxysmal attacks of ataxia with typical onset in childhood or early adolescence. The disease is associated with mutations in the voltage-gated calcium channel alpha 1A subunit (Cav2.1) that is encode

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82d0938c056a8dbf269380b5f52c91c5

Molecular Mechanisms of Presynaptic Plasticity and Function in the Mammalian Brain

Autor: Weyrer, Christopher

I specifically want to thank all the people of the Paulsen and Regehr labs that helped and supported me.
Synaptic plasticity describes efficacy changes in synaptic transmission and ranges in duration from tens to hundreds of milliseconds (short-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9fb085b6f544587c70d20017a83156f6

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