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23 results on '"Uzquiano, Ana"'

1. Proper acquisition of cell class identity in organoids allows definition of fate specification programs of the human cerebral cortex

Author

Uzquiano, Ana, Kedaigle, Amanda J., Pigoni, Martina, Paulsen, Bruna, Adiconis, Xian, Kim, Kwanho, Faits, Tyler, Nagaraja, Surya, Antón-Bolaños, Noelia, Gerhardinger, Chiara, Tucewicz, Ashley, Murray, Evan, Jin, Xin, Buenrostro, Jason, Chen, Fei, Velasco, Silvia, Regev, Aviv, Levin, Joshua Z., and Arlotta, Paola

Published
2022
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3. Autism genes converge on asynchronous development of shared neuron classes

Author

Paulsen, Bruna, Velasco, Silvia, Kedaigle, Amanda J., Pigoni, Martina, Quadrato, Giorgia, Deo, Anthony J., Adiconis, Xian, Uzquiano, Ana, Sartore, Rafaela, Yang, Sung Min, Simmons, Sean K., Symvoulidis, Panagiotis, Kim, Kwanho, Tsafou, Kalliopi, Podury, Archana, Abbate, Catherine, Tucewicz, Ashley, Smith, Samantha N., Albanese, Alexandre, Barrett, Lindy, Sanjana, Neville E., Shi, Xi, Chung, Kwanghun, Lage, Kasper, Boyden, Edward S., Regev, Aviv, Levin, Joshua Z., and Arlotta, Paola

Published
2022
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7. Autism genes converge on asynchronous development of shared neuron classes

Author

Massachusetts Institute of Technology. Department of Biology, Paulsen, Bruna, Velasco, Silvia, Kedaigle, Amanda J, Pigoni, Martina, Quadrato, Giorgia, Deo, Anthony J, Adiconis, Xian, Uzquiano, Ana, Sartore, Rafaela, Yang, Sung Min, Simmons, Sean K, Symvoulidis, Panagiotis, Kim, Kwanho, Tsafou, Kalliopi, Podury, Archana, Abbate, Catherine, Tucewicz, Ashley, Smith, Samantha N, Albanese, Alexandre, Barrett, Lindy, Sanjana, Neville E, Shi, Xi, Chung, Kwanghun, Lage, Kasper, Boyden, Edward S, Regev, Aviv, Levin, Joshua Z, Arlotta, Paola, Massachusetts Institute of Technology. Department of Biology, Paulsen, Bruna, Velasco, Silvia, Kedaigle, Amanda J, Pigoni, Martina, Quadrato, Giorgia, Deo, Anthony J, Adiconis, Xian, Uzquiano, Ana, Sartore, Rafaela, Yang, Sung Min, Simmons, Sean K, Symvoulidis, Panagiotis, Kim, Kwanho, Tsafou, Kalliopi, Podury, Archana, Abbate, Catherine, Tucewicz, Ashley, Smith, Samantha N, Albanese, Alexandre, Barrett, Lindy, Sanjana, Neville E, Shi, Xi, Chung, Kwanghun, Lage, Kasper, Boyden, Edward S, Regev, Aviv, Levin, Joshua Z, and Arlotta, Paola

Published
2023

9. Cell-type specific developmental defects inPTEN-mutant cortical organoids converge on abnormal circuit activity

Author

Pigoni, Martina, primary, Uzquiano, Ana, additional, Paulsen, Bruna, additional, Kedaigle, Amanda, additional, Yang, Sung Min, additional, Symvoulidis, Panagiotis, additional, Adiconis, Xian, additional, Velasco, Silvia, additional, Sartore, Rafaela, additional, Kim, Kwanho, additional, Tucewicz, Ashley, additional, Tsafou, Kalliopi, additional, Jin, Xin, additional, Barrett, Lindy, additional, Chen, Fei, additional, Boyden, Ed, additional, Regev, Aviv, additional, Levin, Joshua Z., additional, and Arlotta, Paola, additional

Published
2022
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10. Organoids as tools for fundamental discovery and translation—a Keystone Symposia report

Author

Cable, Jennifer, primary, Lutolf, Matthias P., additional, Fu, Jianping, additional, Park, Sunghee Estelle, additional, Apostolou, Athanasia, additional, Chen, Shuibing, additional, Song, Cheng Jack, additional, Spence, Jason R., additional, Liberali, Prisca, additional, Lancaster, Madeline, additional, Meier, Anna B., additional, Pek, Nicole Min Qian, additional, Wells, James M., additional, Capeling, Meghan M., additional, Uzquiano, Ana, additional, Musah, Samira, additional, Huch, Meritxell, additional, Gouti, Mina, additional, Hombrink, Pleun, additional, Quadrato, Giorgia, additional, and Urenda, Jean‐Paul, additional

Published
2022
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11. Single-cell multiomics atlas of organoid development uncovers longitudinal molecular programs of cellular diversification of the human cerebral cortex

Author

Uzquiano, Ana, primary, Kedaigle, Amanda J., additional, Pigoni, Martina, additional, Paulsen, Bruna, additional, Adiconis, Xian, additional, Kim, Kwanho, additional, Faits, Tyler, additional, Nagaraja, Surya, additional, Antón-Bolaños, Noelia, additional, Gerhardinger, Chiara, additional, Tucewicz, Ashley, additional, Murray, Evan, additional, Jin, Xin, additional, Buenrostro, Jason, additional, Chen, Fei, additional, Velasco, Silvia, additional, Regev, Aviv, additional, Levin, Joshua Z., additional, and Arlotta, Paola, additional

Published
2022
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15. Human brain organoids reveal accelerated development of cortical neuron classes as a shared feature of autism risk genes

Author

Paulsen, Bruna, primary, Velasco, Silvia, additional, Kedaigle, Amanda J., additional, Pigoni, Martina, additional, Quadrato, Giorgia, additional, Deo, Anthony, additional, Adiconis, Xian, additional, Uzquiano, Ana, additional, Kim, Kwanho, additional, Simmons, Sean K., additional, Tsafou, Kalliopi, additional, Albanese, Alex, additional, Sartore, Rafaela, additional, Abbate, Catherine, additional, Tucewicz, Ashley, additional, Smith, Samantha, additional, Chung, Kwanghun, additional, Lage, Kasper, additional, Regev, Aviv, additional, Levin, Joshua Z., additional, and Arlotta, Paola, additional

Published
2020
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16. Eml1 loss impairs apical progenitor spindle length and soma shape in the developing cerebral cortex

Author

Bizzotto, Sara, Uzquiano, Ana, Dingli, Florent, Ershov, Dmitry, Houllier, Anne, Arras, Guillaume, Richards, Mark, Loew, Damarys, Minc, Nicolas, Croquelois, Alexandre, Houdusse, Anne, Francis, Fiona, Francis, Fiona, Institut du Fer à Moulin (IFM - Inserm U1270 - SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Harvard Medical School [Boston] (HMS), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Boston Children's Hospital, Laboratoire de Spectrométrie de Masse Protéomique, Institut Curie [Paris], Institut Jacques Monod (IJM (UMR_7592)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), University of Leicester, Université de Lausanne = University of Lausanne (UNIL), Biologie Cellulaire et Cancer, and Institut Curie [Paris]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Cerebral Cortex, Mice, Knockout, [SDV]Life Sciences [q-bio], lcsh:R, lcsh:Medicine, Classical Lissencephalies and Subcortical Band Heterotopias, Spindle Apparatus, Article, [SDV] Life Sciences [q-bio], Mice, Neural Stem Cells, Animals, Female, lcsh:Q, lcsh:Science, Microtubule-Associated Proteins, Cells, Cultured, Cerebral Cortex/metabolism, Cerebral Cortex/pathology, Classical Lissencephalies and Subcortical Band Heterotopias/metabolism, Classical Lissencephalies and Subcortical Band Heterotopias/pathology, Microtubule-Associated Proteins/physiology, Neural Stem Cells/metabolism, Neural Stem Cells/pathology, Spindle Apparatus/metabolism, Spindle Apparatus/pathology
Abstract

International audience; The ventricular zone (VZ) of the developing cerebral cortex is a pseudostratified epithelium that contains progenitors undergoing precisely regulated divisions at its most apical side, the ventricular lining (VL). Mitotic perturbations can contribute to pathological mechanisms leading to cortical malformations. The HeCo mutant mouse exhibits subcortical band heterotopia (SBH), likely to be initiated by progenitor delamination from the VZ early during corticogenesis. The causes for this are however, currently unknown. Eml1, a microtubule (MT)-associated protein of the EMAP family, is impaired in these mice. We first show that MT dynamics are perturbed in mutant progenitor cells in vitro. These may influence interphase and mitotic MT mechanisms and indeed, centrosome and primary cilia were altered and spindles were found to be abnormally long in HeCo progenitors. Consistently, MT and spindle length regulators were identified in EML1 pulldowns from embryonic brain extracts. Finally, we found that mitotic cell shape is also abnormal in the mutant VZ. These previously unidentified VZ characteristics suggest altered cell constraints which may contribute to cell delamination.

Published
2017
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21. The assembly of developing motor neurons depends on an interplay between spontaneous activity, type II cadherins and gap junctions

Author

Montague, Karli, Lowe, Andrew J., Uzquiano, Ana, Knüfer, Athene, Astick, Marc, Price, Stephen S.R., Guthrie, Sarah, Montague, Karli, Lowe, Andrew J., Uzquiano, Ana, Knüfer, Athene, Astick, Marc, Price, Stephen S.R., and Guthrie, Sarah

Abstract

A core structural and functional motif of the vertebrate central nervous systemis discrete clusters of neurons or ʼnuclei’. Yet the developmental mechanisms underlying this fundamental mode of organisation are largely unknown.We have previously shown that the assembly ofmotor neurons into nuclei depends on cadherin-mediated adhesion. Here, we demonstrate that the emergence of mature topography among motor nuclei involves a novel interplay between spontaneous activity, cadherin expression and gap junction communication. We report that nuclei display spontaneous calciumtransients, and that changes in the activity patterns coincide with the course of nucleogenesis. We also find that these activity patterns are disrupted by manipulating cadherin or gap junction expression. Furthermore, inhibition of activity disrupts nucleogenesis, suggesting that activity feeds back tomaintain integrityamong motor neurons within a nucleus. Our study suggests that a network of interactions between cadherins, gap junctions and spontaneous activity governs neuron assembly, presaging circuit formation., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2017

22. Forebrain Eml1 depletion reveals early centrosomal dysfunction causing subcortical heterotopia.

Author

Zaidi, Donia, Chinnappa, Kaviya, Yigit, Berfu Nur, Viola, Valeria, Cifuentes-Diaz, Carmen, Jabali, Ammar, Uzquiano, Ana, Lemesre, Emilie, Perez, Franck, Ladewig, Julia, Ferent, Julien, Ozlu, Nurhan, and Francis, Fiona

Subjects
*PROSENCEPHALON, *CELLULAR control mechanisms, *CELL cycle, *MICROTUBULE-associated proteins, *WHITE matter (Nerve tissue)
Abstract

Subcortical heterotopia is a cortical malformation associated with epilepsy, intellectual disability, and an excessive number of cortical neurons in the white matter. Echinoderm microtubule-associated protein like 1 (EML1) mutations lead to subcortical heterotopia, associated with abnormal radial glia positioning in the cortical wall, prior to malformation onset. This perturbed distribution of proliferative cells is likely to be a critical event for heterotopia formation; however, the underlying mechanisms remain unexplained. This study aimed to decipher the early cellular alterations leading to abnormal radial glia. In a forebrain conditional Eml1 mutant model and human patient cells, primary cilia and centrosomes are altered. Microtubule dynamics and cell cycle kinetics are also abnormal in mouse mutant radial glia. By rescuing microtubule formation in Eml1 mutant embryonic brains, abnormal radial glia delamination and heterotopia volume were significantly reduced. Thus, our new model of subcortical heterotopia reveals the causal link between Eml1's function in microtubule regulation and cell position, both critical for correct cortical development. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Mutations in the Heterotopia Gene Eml1/EML1Severely Disrupt the Formation of Primary Cilia

Author

Uzquiano, Ana, Cifuentes-Diaz, Carmen, Jabali, Ammar, Romero, Delfina M., Houllier, Anne, Dingli, Florent, Maillard, Camille, Boland, Anne, Deleuze, Jean-François, Loew, Damarys, Mancini, Grazia M.S., Bahi-Buisson, Nadia, Ladewig, Julia, and Francis, Fiona

Abstract

Apical radial glia (aRGs) are predominant progenitors during corticogenesis. Perturbing their function leads to cortical malformations, including subcortical heterotopia (SH), characterized by the presence of neurons below the cortex. EML1/Eml1mutations lead to SH in patients, as well as to heterotopic cortex (HeCo) mutant mice. In HeComice, some aRGs are abnormally positioned away from the ventricular zone (VZ). Thus, unraveling EML1/Eml1 function will clarify mechanisms maintaining aRGs in the VZ. We pinpoint an unknown EML1/Eml1 function in primary cilium formation. In HeCoaRGs, cilia are shorter, less numerous, and often found aberrantly oriented within vesicles. Patient fibroblasts and human cortical progenitors show similar defects. EML1 interacts with RPGRIP1L, a ciliary protein, and RPGRIP1Lmutations were revealed in a heterotopia patient. We also identify Golgi apparatus abnormalities in EML1/Eml1mutant cells, potentially upstream of the cilia phenotype. We thus reveal primary cilia mechanisms impacting aRG dynamics in physiological and pathological conditions.

Published
2019
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