Contactin‐associated protein‐like 2, a protein of the neurexin family involved in several human diseases

Autor:	Véronique Pellier-Monnin, Olivier Pascual, Nelly Noraz, Bastien Joubert, Margaux Saint-Martin, Jérôme Honnorat
Rok vydání:	2018
Předmět:	0301 basic medicine Nervous system CNTNAP2 Neurexin Action Potentials Nerve Tissue Proteins Biology Synapse 03 medical and health sciences Epilepsy Autoimmune Diseases of the Nervous System 0302 clinical medicine medicine Animals Humans General Neuroscience Brain Membrane Proteins medicine.disease Axon initial segment Axons Disease Models Animal 030104 developmental biology medicine.anatomical_structure Neurodevelopmental Disorders Knockout mouse Autism Neuroscience 030217 neurology & neurosurgery
Zdroj:	European Journal of Neuroscience. 48:1906-1923
ISSN:	1460-9568 0953-816X
DOI:	10.1111/ejn.14081
Popis:	Contactin-associated protein-like 2 (CASPR2) is a cell adhesion protein of the neurexin family. Proteins of this family have been shown to play a role in the development of the nervous system, in synaptic functions, and in neurological diseases. Over recent years, CASPR2 function has gained an increasing interest as demonstrated by the growing number of publications. Here, we gather published data to comprehensively review CASPR2 functions within the nervous system in relation to CASPR2-related diseases in humans. On the one hand, studies on Cntnap2 (coding for CASPR2) knockout mice revealed its role during development, especially, in setting-up the inhibitory network. Consistent with this result, mutations in the CNTNAP2 gene coding for CASPR2 in human have been identified in neurodevelopmental disorders such as autism, intellectual disability, and epilepsy. On the other hand, CASPR2 was shown to play a role beyond development, in the localization of voltage-gated potassium channel (VGKC) complex that is composed of TAG-1, Kv1.1, and Kv1.2. This complex was found in several subcellular compartments essential for action potential propagation: the node of Ranvier, the axon initial segment, and the synapse. In line with a role of CASPR2 in the mature nervous system, neurological autoimmune diseases have been described in patients without neurodevelopmental disorders but with antibodies directed against CASPR2. These autoimmune diseases were of two types: central with memory disorders and temporal lobe seizures, or peripheral with muscular hyperactivity. Overall, we review the up-to-date knowledge on CASPR2 function and pinpoint confused or lacking information that will need further investigation.
Databáze:	OpenAIRE
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