Gabriela Coux

Gabriela Coux
Instituto de Biología Molecular y Celular de Rosario · Bioquímica y Biología Molecular del Desarrollo

PhD

About

22
Publications
1,425
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265
Citations
Introduction
Zebrafish is a suitable model for the study of craniofacial congenital disease. Our working hypotheses support that gene regulatory phenomena would be preserved among vertebrates, allowing us not only to generate basic knowledge but also tools for their modulation and intervention when associated with human pathologies. Bioinformatics, biophysics, biochemistry & molecular biology are our tools. And we enjoy looking at the microscope too.

Publications

Publications (22)
Article
Full-text available
Treacher Collins syndrome (TCS) is a genetic disorder affecting facial development, primarily caused by mutations in the TCOF1 gene. TCOF1, along with NOLC1, play important roles in ribosomal RNA transcription and processing. Previously, a zebrafish model of TCS successfully recapitulated the main characteristics of the syndrome by knocking down th...
Article
Full-text available
Treacle ribosome biogenesis factor 1 (TCOF1) is responsible for about 80% of mandibular dysostosis (MD) cases. We have formerly identified a correlation between TCOF1 and CNBP (CCHC-type zinc finger nucleic acid binding protein) expression in human mesenchymal cells. Given the established role of CNBP in gene regulation during rostral development,...
Preprint
Full-text available
Treacle ribosome biogenesis factor 1 ( TCOF1 ) is responsible for about 80% of mandibular dysostosis (MD) cases. We have formerly identified a correlation between TCOF1 and CNBP (CCHC-type zinc finger nucleic acid binding protein) expression in human mesenchymal cells. Given the established role of CNBP in gene regulation during rostral development...
Article
Background Cellular nucleic acid binding protein (CNBP) is a conserved single-stranded nucleic acid binding protein present in most eukaryotes, but not in plants. Expansions in the CNBP gene cause myotonic dystrophy type 2. Initially reported as a transcriptional regulator, CNBP was then also identified acting as a translational regulator. Scope o...
Article
Context Iodide transport defect (ITD) (Online Mendelian Inheritance in Man #274400) is an uncommon cause of dyshormonogenic congenital hypothyroidism due to loss-of-function variants in the SLC5A5 gene, which encodes the sodium/iodide symporter (NIS), causing deficient iodide accumulation in thyroid follicular cells. Objective To determine the mol...
Article
Although the vertebrate head has evolved to a wide collection of adaptive shapes, the fundamental signalling pathways and cellular events that outline the head skeleton have proven to be highly conserved. This conservation suggests that major morphological differences are due to changes in differentiation and morphogenetic programs downstream of a...
Article
Treacher Collins Syndrome (TCS) is a congenital disease characterized by defects in the craniofacial skeleton and absence of mental alterations. Recently we modelled TCS in zebrafish (Danio rerio) embryos through the microinjection of Morpholino® oligonucleotides blocking the translation of the ortholog of the main causative gene (TCOF1). We showed...
Article
Full-text available
Treacher Collins Syndrome (TCS) is a rare congenital disease (1:50 000 live births) characterized by craniofacial defects, including hypoplasia of facial bones, cleft palate and palpebral fissures. Over 90% of the cases are due to mutations in the TCOF1 gene, which codifies the nucleolar protein Treacle. Here we report a novel TCS-like zebrafish mo...
Article
Full-text available
SPOAN syndrome is a neurodegenerative disorder mainly characterized by spastic paraplegia, optic atrophy and neuropathy (SPOAN). Affected patients are wheelchair bound after 15 years old, with progressive joint contractures and spine deformities. SPOAN patients also have sub normal vision secondary to apparently non-progressive congenital optic atr...
Article
Recently, we have provided evidence for the involvement of a cytosolic tyrosine-phosphorylatable 70 kDa oocyte protein in Rhinella arenarum (Anura: Bufonidae) fertilization. The aim of the present work was to characterize its phosphorylation, determine the identity of this protein and establish its biological role during the fertilization process....
Article
In the principal route of phosphatidylcholine (PC) synthesis the regulatory steps are catalysed by CTP:phosphocholine cytidylyltransferase (CCT) and choline kinase (CK). Knock-out mice in Pcyt1a (CCT gene) and Chka1 (CK gene) resulted in preimplantation embryonic lethality, demonstrating the essential role of this pathway. However, there is still a...
Article
Full-text available
Heat shock proteins A (HSPAs, previously known as HSP70s) are widely distributed proteins originally linked with heat shock but now associated with several normal cellular functions. We recently found indirect evidence suggesting a role for HSPAs in sperm-oocyte interaction in the amphibian Bufo arenarum. In the present study our aim was to study i...
Article
Full-text available
Integrins are cell adhesion molecules that are thought to be involved in sperm-oocyte interaction. Nevertheless, their function in mammalian fertilization is still controversial, as different species behave differently. In amphibians, their role is mainly supported by Xenopus laevis studies, where RGDS peptide induces oocyte activation. We recently...
Article
Despite the central role of Na(+), K(+)-ATPase (NKA) in ischaemic renal injury (IRI), cortical NKA activity values during renal ischaemia remain controversial. In this study, we explore why cortical NKA activity shows such behaviour during ischaemia in rats. Ischaemia was induced by unilateral renal artery clamping (40 min, I) followed or not by re...
Article
Sperm-oocyte plasma membrane interaction is an essential step in fertilization. In amphibians, the molecules involved have not been identified. Our aim was to detect and characterize oocyte molecules with binding affinity for sperm. We isolated plasma membranes free from vitelline envelope and yolk proteins from surface-biotinylated Bufo arenarum o...
Article
In previous works we reported that the administration of a toxic dose of acetaminophen (APAP) induces acute renal failure (ARF) and promotes changes on Na(+), K(+)ATPase distribution in renal proximal plasma membranes. In the present work, we analyzed if APAP could promote the dissociation of Na(+), K(+)ATPase from its membrane anchorage. The parti...
Article
The effects of ischaemic injury and reperfusion on renal function, cortical ATP content, alkaline phosphatase activity and (Na(+)+K(+))-ATPase activity and abundance in cortical homogenates and isolated basolateral and apical membranes were examined. Rats were submitted to 5 or 40 min of right renal artery occlusion and 60 min of reperfusion. Renal...
Article
The aim of our work was to study the changes in activity, abundance and distribution of sodium, potassium-adenosine triphosphatase (Na+,K+-ATPase) in membranes of cortical tubular cells in an in vivo model of ischemic injury without reperfusion. Na+,K+-ATPase, alkaline phosphatase (AP) activities and their distribution in membranes isolated from re...
Article
The aim of our work was to study the changes in activity, abundance and distribution of sodium, potassium-adenosine triphosphatase (Na+,K+-ATPase) in membranes of cortical tubular cells in an in vivo model of ischemic injury without reperfusion. Na+,K+-ATPase, alkaline phosphatase (AP) activities and their distribution in membra...
Article
Full-text available
The synthesis of 6α-chloropenicillanate sulfone esters 6a-c, 12, the acetate and benzoate of 3α-hydroxymethyl-6α-chloropenam sulfones 8a-b and pivaloyloxymethyl and benzyl esters of several 6α-(sulfonyl)oxypenicillanate sulfones 15, 18a1-a3, 18b1-b3 are reported. When tested as inhibitors of porcine pancreatic elastase, the acetate of 3α-hydroxymet...
Article
The synthesis of 6α-chloropenicillanate sulfone esters 4a-c, 9, the acetate and benzoate of 3α-hydroxymethyl-6α-chloropenam sulfones 6a-b and pivaloyloxymethyl and benzyl esters of several 6α-(sulfonyl)oxypenicillanate sulfones 12, 15a1-a3, 15b1-b3 are reported. When tested as inhibitors of porcine pancreatic elastase, the acetate of 3α-hydroxymeth...

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