Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster

Autor: Janani Iyer, Mayanglambam Dhruba Singh, Matthew Jensen, Payal Patel, Lucilla Pizzo, Emily Huber, Haley Koerselman, Alexis T. Weiner, Paola Lepanto, Komal Vadodaria, Alexis Kubina, Qingyu Wang, Abigail Talbert, Sneha Yennawar, Jose Badano, J. Robert Manak, Melissa M. Rolls, Arjun Krishnan, Santhosh Girirajan

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-19 (2018)

The 16p11.2 deletion leads to a range of neurodevelopmental phenotypes, but to date, sequencing studies have not been able to pinpoint individual genes that are causative for the disease on their own. Here, using Drosophila homologs of 14 16p11.2 gen

Externí odkaz: https://doaj.org/article/d7ac17fe1f8f4fac96fe435cdcaaa18c

Elimination of Pseudomonas aeruginosa through Efferocytosis upon Binding to Apoptotic Cells.

Autor: Darío Capasso, María Victoria Pepe, Jéssica Rossello, Paola Lepanto, Paula Arias, Valentina Salzman, Arlinet Kierbel

Publikováno v: PLoS Pathogens, Vol 12, Iss 12, p e1006068 (2016)

For opportunistic pathogens such as Pseudomonas aeruginosa, the mucosal barrier represents a formidable challenge. Infections develop only in patients with altered epithelial barriers. Here, we showed that P. aeruginosa interacts with a polarized epi

Externí odkaz: https://doaj.org/article/6372ba4e30424d62967dd3496dbf4ee3

Multi-harmonic spectral phasor analysis of LAURDAN hyperspectral imaging enables the in vivo study of membrane dynamics of multiple membrane-bound organelles

Autor: Alexander Vallmitjana, Paola Lepanto, Florencia Irigoin, Leonel S. Malacrida

Publikováno v: Biophysical Journal. 122:153a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::07d67208f4e5fee8f478b77da20c61a6
https://doi.org/10.1016/j.bpj.2022.11.990

Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B

Autor: Federico Lecumberry, Lucía Alfaya, Camila Davison, Gabriela Casanova, Jose L. Badano, Paola Lepanto, Florencia Irigoín, Rossina Novas, Mauricio Ramos, María Inés Fariello, Magela Rodao, Matías Fabregat, Gualberto González-Sapienza, Magdalena Cardenas-Rodriguez

Publikováno v: Scientific Reports, Vol 8, Iss 1, Pp 1-16 (2018)
Scientific Reports
COLIBRI
Universidad de la República
instacron:Universidad de la República

Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal disease and mental retardation. CCDC28B is a BBS-associated protein that we have previously shown plays a role in cilia length regulation w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7365c2c2cbcc3d61fd3b2f1c9ca93972
https://doaj.org/article/b12b6dca1e794eb5831efb3cd8564235

Studying Human Genetic Variation in Zebrafish

Autor: Jose L. Badano, Paola Lepanto, Flavio R. Zolessi

In the new genomic era, the challenge has shifted from the identification of genetic variants to their interpretation. In this context, animal models are key as they allow for the testing of the functional consequences of genomic findings in diverse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::85decb5a0094a598b4268155fc80bb37
https://doi.org/10.1016/b978-0-12-816573-7.00005-5