Alterations in the ribbon synapse of the first Pomt1 conditional knockout mouse model of dystroglycanopathies

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Campo DC	Valor	Lengua/Idioma
dc.contributor.author	Rubio, Marcos	es_ES
dc.contributor.author	Uribe, Mary Luz	es_ES
dc.contributor.author	Vicente, Javier	es_ES
dc.contributor.author	Susín, Cristina	es_ES
dc.contributor.author	Martín-Nieto, José	es_ES
dc.contributor.author	Cruces, Jesús	es_ES
dc.date.accessioned	2017-08-18T12:02:59Z	-
dc.date.available	2017-08-18T12:02:59Z	-
dc.date.issued	2016	-
dc.identifier.citation	XXXIX Congreso de la SEBBM (2016)	es_ES
dc.identifier.uri	http://hdl.handle.net/10261/154196	-
dc.description	Resumen del póster presentado al XXXIX Congreso anual de la Sociedad Española de Bioquímica y Biología Molecular, celebrado en Salamanca, del 5 al 8 de septiembre 2016.-- et al.	es_ES
dc.description.abstract	Protein O-mannosyltransferase 1 (POMT1) is one of the causative genes of dystroglycanopathies (DGPs), a heterogeneous group of congenital recessive neuromuscular diseases. The most severe DGPs course with important muscular, brain and ocular anomalies derived from hypoglycosylation of α−dystroglycan (α−DG), a key protein component of the dystrophin-glycoprotein complex (DGC) in muscular and neural cells. α−DG interacts with extracelular matrix (ECM) proteins by means of its O-glycosylated residues, specifically O-mannosyl glycans, whose initial mannose is covalently added by POMT1. Our group has previously evidenced the embryonic lethality of a Pomt1 constitutive knockout (KO) mutation. Consequently, in this work we generated, by using the Cre-loxP system, a retinal conditional KO (cKO) mouse model selectively undergoing a Pomt1 intragenic deletion in developing photoreceptors. Lack of POMT1 in the retinas of these mice correlated with a loss of α−DG glycosylation and laminin-binding ability. Electroretinographic (ERG) records in Pomt1 cKO mice showed a significantly reduced b-wave amplitude and increased implicit time. By immunohistofluorescence, β-DG and pikachurin (a retinal ECM, α−DG-interacting-protein) were found to be absent in the outer plexiform layer (OPL), and a sprouting of bipolar cell dendrites into the outer nuclear layer was observed. Finally, at the ultrastructural level ribbon synapses exhibited an anomalous organization, with bipolar cells processes being barely visible in the synaptic cleft of cones and rods axon terminals. In conclusion, our findings are strongly suggestive of a pivotal role of POMT1 and α−DG glycosylation in the formation and function of ribbon synapses between photoreceptors and bipolar cells in the OPL.	es_ES
dc.language.iso	eng	es_ES
dc.rights	closedAccess	es_ES
dc.title	Alterations in the ribbon synapse of the first Pomt1 conditional knockout mouse model of dystroglycanopathies	es_ES
dc.type	póster de congreso	es_ES
dc.description.peerreviewed	Peer reviewed	es_ES
dc.relation.csic	Sí	es_ES
oprm.item.hasRevision	no ko 0 false	*
dc.type.coar	http://purl.org/coar/resource_type/c_6670	es_ES
item.openairecristype	http://purl.org/coar/resource_type/c_18cf	-
item.fulltext	No Fulltext	-
item.cerifentitytype	Publications	-
item.openairetype	póster de congreso	-
item.languageiso639-1	en	-
item.grantfulltext	none	-
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