Institution
Fundación Instituto Leloir
Facility•Buenos Aires, Argentina•
About: Fundación Instituto Leloir is a facility organization based out in Buenos Aires, Argentina. It is known for research contribution in the topics: Dentate gyrus & Neurogenesis. The organization has 702 authors who have published 1052 publications receiving 39299 citations.
Topics: Dentate gyrus, Neurogenesis, RNA, Arabidopsis, Gene
Papers published on a yearly basis
Papers
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TL;DR: Contrary to its predicted function as a beta-propeller methanol dehydrogenase, light scattering and crystallographic studies showed that BA41-TPM behaves as a globular monomeric protein and adopts a conserved Rossmann fold, typically observed in other TPM domain structures.
4 citations
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TL;DR: In this article, two Proline-rich Extensin-like Receptor Kinases (PERKs) were identified from Arabidopsis thaliana, PERK5 and PERK12 highly expressed in mature pollen.
Abstract: Background Cell wall integrity plays an essential role during polarized cell growth typical of pollen tubes and root hairs. Proline-rich Extensin-like Receptor Kinases (PERK) belong to the hydroxyproline-rich glycoprotein (HRGP) superfamily of cell surface glycoproteins. Results Here, we identified two PERKs from Arabidopsis thaliana, PERK5 and PERK12 highly expressed in mature pollen. Pollen tube growth was impaired in the single and double perk5-1 perk12-1 loss of function mutants, with a moderate impact on seed production. When the segregation of self- and reciprocal-crosses of the perk5-1, perk5-2 and perk12-1 single mutants, and reciprocal-crosses of the perk5-1 perk12-1 double mutant were carried out, a male gametophytic defect was found, indicating that perk5-1 and perk12-1 mutants carry defective pollen tubes, resulting in deficient pollen transmission. Furthermore, double perk5-1 perk12-1 mutants show excessive accumulation of pectins and cellulose at the cell wall pollen of the tube tip. In addition, an upregulation of cytoplasmic ROS levels were detected by using 2,7-dichlorofluorescein diacetate probe (H2DCF-DA), and in agreement, similar results were obtained with HyPer, a genetically encoded YFP-based radiometric sensor, which is used to follow the production of hydrogen peroxide (H2O2). Single and double perk5-1 perk12-1 mutants show higher levels of cytoplasmic H2O2 in their pollen tube tips. Conclusions Taken together, our results suggest that PERK5 and PERK12 are necessary for proper pollen tube growth highlighting their role on cell wall assembly and ROS homeostasis.
4 citations
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TL;DR: It is demonstrated that PGF2α induces extracellular‐signal‐regulated kinase (ERK1‐2) and p38MAPK activation, and inhibition of any of these signaling pathways completely blocks PGF 2α‐stimulated DNA synthesis.
4 citations
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TL;DR: The first chromosomally-encoded CTX-M β-lactamase was reported in Salmonella Choleraesuis strain in Japan as discussed by the authors, which showed similar hydrolytic preference towards cefotaxime/ceftriaxone when compared to ceftazidime.
Abstract: The diazabicyclooctane (DBO) inhibitor, avibactam (AVI), reversibly inactivates most serine-β-lactamases including the CTX-M β-lactamases. Currently, more than 230 CTX-M unique members distributed in five clusters with less than 5% amino acid sequence divergence within each group are described. Recently, a variant named as CTX-M-151 was isolated from a Salmonella Choleraesuis strain in Japan. This variant possesses a low degree amino acid identity with the other CTX-Ms (63.2-69.7% with respect to the mature proteins), and thus it may represent a new sub-group within the family. CTX-M-151 hydrolyzes ceftriaxone better than ceftazidime (k cat/K m values 6,000-fold higher), as observed with CTX-Ms. CTX-M-151 is well inhibited by mechanism-based inhibitors like clavulanic acid (k inact/K I = 0.15 μM-1s-1). For AVI, K i app (0.4 μM) was comparable to KPC-2; k2/K (37,000 M-1s-1) was lower than for CTX-M-15, while the k off (0.0015 s-1) was 2-14-fold faster than other class A β-lactamases. The structure of the CTX-M-151/AVI complex (1.32 A) reveals that AVI adopts a chair conformation with hydrogen bonds between the AVI carbamate and Ser70 and Ser237 at the oxyanion hole. Upon acylation, the side chain of Lys73 points towards Ser130 which is associated with the protonation of Glu166, supporting the role of Lys73 in the proton-relay pathway and Glu166 as the general base in deacylation. To our knowledge, this is the first chromosomally-encoded CTX-M in Salmonella Choleraesuis that shows similar hydrolytic preference towards cefotaxime/ceftriaxone when compared to ceftazidime.
4 citations
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Radboud University Nijmegen1, Trinity College, Dublin2, St John of Jerusalem Eye Hospital Group3, Ghent University Hospital4, Seconda Università degli Studi di Napoli5, Hebrew University of Jerusalem6, Rappaport Faculty of Medicine7, Leiden University Medical Center8, university of lille9, First Faculty of Medicine, Charles University in Prague10, Ljubljana University Medical Centre11, Federal University of São Paulo12, University of Ljubljana13, University of California, Los Angeles14, University of Cape Town15, Jikei University School of Medicine16, Hannover Medical School17, University Hospital Regensburg18, Erasmus University Rotterdam19, University of Western Australia20, Sir Charles Gairdner Hospital21, University of Alberta22, Fundación Instituto Leloir23, University of Montpellier24, Tel Aviv University25, Tel Aviv Sourasky Medical Center26, Medical University of Warsaw27, University of Auckland28, University of Regensburg29
TL;DR: Integrated complete gene sequencing combined with transcript analysis, identified pathogenic deep-intronic and structural variants in 26% of bi-allelic cases not solved previously by sequencing of coding regions.
Abstract: Missing heritability in human diseases represents a major challenge. Although whole-genome sequencing enables the analysis of coding and non-coding sequences, substantial costs and data storage requirements hamper its large-scale use to (re)sequence genes in genetically unsolved cases. The ABCA4 gene implicated in Stargardt disease (STGD1) has been studied extensively for 22 years, but thousands of cases remained unsolved. Therefore, single molecule molecular inversion probes were designed that enabled an automated and cost-effective sequence analysis of the complete 128-kb ABCA4 gene. Analysis of 1,054 unsolved STGD and STGD-like probands resulted in bi-allelic variations in 448 probands. Twenty-seven different causal deep-intronic variants were identified in 117 alleles. Based on in vitro splice assays, the 13 novel causal deep-intronic variants were found to result in pseudo-exon (PE) insertions (n=10) or exon elongations (n=3). Intriguingly, intron 13 variants c.1938-621G>A and c.1938-514G>A resulted in dual PE insertions consisting of the same upstream, but different downstream PEs. The intron 44 variant c.6148-84A>T resulted in two PE insertions that were accompanied by flanking exon deletions. Structural variant analysis revealed 11 distinct deletions, two of which contained small inverted segments. Uniparental isodisomy of chromosome 1 was identified in one proband. Integrated complete gene sequencing combined with transcript analysis, identified pathogenic deep-intronic and structural variants in 26% of bi-allelic cases not solved previously by sequencing of coding regions. This strategy serves as a model study that can be applied to other inherited diseases in which only one or a few genes are involved in the majority of cases.
4 citations
Authors
Showing all 707 results
Name | H-index | Papers | Citations |
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Jorge J. Casal | 61 | 182 | 10814 |
Silvia N.J. Moreno | 61 | 225 | 10585 |
Won Sang Park | 58 | 227 | 10501 |
Su Young Kim | 51 | 198 | 8829 |
Marcelo J. Yanovsky | 44 | 93 | 7949 |
Mario D. Galigniana | 40 | 99 | 5257 |
Eduardo M. Castaño | 40 | 89 | 7125 |
Andrea V. Gamarnik | 38 | 82 | 5896 |
Osvaldo L. Podhajcer | 35 | 122 | 4996 |
Alejandro F. Schinder | 34 | 64 | 10256 |
Juliana Idoyaga | 32 | 63 | 5326 |
Fernando Alberto Goldbaum | 32 | 103 | 3385 |
Fernando Juan Pitossi | 31 | 65 | 4489 |
Kevin Gaston | 29 | 78 | 2725 |
Jong Woo Lee | 29 | 77 | 3453 |