Seizures regulate the cation-Cl− cotransporter NKCC1 in a hamster model of epilepsy: implications for GABA neurotransmission

Autor: Juan-Manuel Bonet-Fernández, Pedro Tranque, Jose Daniel Aroca-Aguilar, Luis J. Muñoz, Dolores E. López, Julio Escribano, Carlos de Cabo

Publikováno v: Frontiers in Neurology, Vol 14 (2023)

BackgroundThe balance between the activity of the Na+/K+/Cl− cotransporter (NKCC1) that introduces Cl− into the cell and the K+/Cl− cotransporter (KCC2) that transports Cl− outside the cell is critical in determining the inhibitory or excitat

Externí odkaz: https://doaj.org/article/f4de0f8df4ef487187944caf20cdd54f

Transgenic Overexpression of Myocilin Leads to Variable Ocular Anterior Segment and Retinal Alterations Associated with Extracellular Matrix Abnormalities in Adult Zebrafish

Autor: Raquel Atienzar-Aroca, Jesús-José Ferre-Fernández, Angel Tevar, Juan-Manuel Bonet-Fernández, María-José Cabañero, María-José Ruiz-Pastor, Nicolás Cuenca, José-Daniel Aroca-Aguilar, Julio Escribano

Publikováno v: RUA. Repositorio Institucional de la Universidad de Alicante
Universidad de Alicante (UA)
International Journal of Molecular Sciences; Volume 23; Issue 17; Pages: 9989

Myocilin is an enigmatic glaucoma-associated glycoprotein whose biological role remains incompletely understood. To gain novel insight into its normal function, we used transposon-mediated transgenesis to generate the first zebrafish line stably over

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77e48480f4c754aeac4baf671eeb6af0
https://doi.org/10.3390/ijms23179989

Null cyp1b1 Activity in Zebrafish Leads to Variable Craniofacial Defects Associated with Altered Expression of Extracellular Matrix and Lipid Metabolism Genes

Autor: Juan-Manuel Bonet-Fernández, José-Daniel Aroca-Aguilar, Julio Escribano, Susana Alexandre-Moreno, Raquel Atienzar-Aroca

Publikováno v: RUIdeRA. Repositorio Institucional de la UCLM
instname
International Journal of Molecular Sciences, Vol 22, Iss 6430, p 6430 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 12

CYP1B1 loss of function (LoF) is the main known genetic alteration present in recessive primary congenital glaucoma (PCG), an infrequent disease characterized by delayed embryonic development of the ocular iridocorneal angle
however, the underly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44a22dc57a9b5a6f291ad4f0a4f1b2a3
http://hdl.handle.net/10578/29135

Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish

Autor: Juan-Manuel Bonet-Fernández, Raquel Atienzar-Aroca, Julian Garcia-Feijoo, Susana Alexandre-Moreno, Carmen-Dora Méndez, Julio Escribano, Samuel Morales-Cámara, Jesús-José Ferre-Fernández, Miguel Coca-Prados, Laura Morales, José-María Martínez-de-la-Casa, José-Daniel Aroca-Aguilar, Laura Fernández-Sánchez, Nicolás Cuenca

Publikováno v: E-Prints Complutense. Archivo Institucional de la UCM
instname
RUIdeRA. Repositorio Institucional de la UCLM
E-Prints Complutense: Archivo Institucional de la UCM
Universidad Complutense de Madrid
Genes
RUA. Repositorio Institucional de la Universidad de Alicante
Universidad de Alicante (UA)
Volume 11
Issue 5
Genes, Vol 11, Iss 550, p 550 (2020)

Primary congenital glaucoma (PCG) is a heterogeneous, inherited, and severe optical neuropathy caused by apoptotic degeneration of the retinal ganglion cell layer. Whole-exome sequencing analysis of one PCG family identified two affected siblings who

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e736ba6dbe8126921ecf433e2410150
https://hdl.handle.net/10045/106915

CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix

Autor: Blanca Rojas, José-María Martínez-de-la-Casa, Carmen Ayuso, Juan-Manuel Bonet-Fernández, Marta Corton, Jesús-José Ferre-Fernández, Cristina Villaverde, Alejandra Tamayo, Raquel Atienzar-Aroca, Ionut F Iancu, José-Daniel Aroca-Aguilar, Julian Garcia-Feijoo, C. Méndez-Hernández, María-Teresa García-Antón, Julio Escribano, Miguel Coca-Prados, Juan-José Salazar, Susana Alexandre-Moreno, Ana-Isabel Ramírez, Laura Morales-Fernandez

Publikováno v: RUIdeRA. Repositorio Institucional de la UCLM
instname
E-Prints Complutense: Archivo Institucional de la UCM
Universidad Complutense de Madrid
E-Prints Complutense. Archivo Institucional de la UCM

Abnormal development of the ocular anterior segment may lead to a spectrum of clinical phenotypes ranging from primary congenital glaucoma (PCG) to variable anterior segment dysgenesis (ASD). The main objective of this study was to identify the genet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::891d1608600754a65f06ad15316be9ed
http://hdl.handle.net/10578/29137