Ana Uzquiano
YOU?
Author Swipe
View article: Forebrain Eml1 depletion reveals early centrosomal dysfunction causing subcortical heterotopia
Forebrain Eml1 depletion reveals early centrosomal dysfunction causing subcortical heterotopia Open
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 t…
View article: Cell-type specific defects in<i>PTEN</i>-mutant cortical organoids converge on abnormal circuit activity
Cell-type specific defects in<i>PTEN</i>-mutant cortical organoids converge on abnormal circuit activity Open
De novo heterozygous loss-of-function mutations in phosphatase and tensin homolog (PTEN) are strongly associated with autism spectrum disorders; however, it is unclear how heterozygous mutations in this gene affect different cell types dur…
View article: Cell-type specific developmental defects in<i>PTEN</i>-mutant cortical organoids converge on abnormal circuit activity
Cell-type specific developmental defects in<i>PTEN</i>-mutant cortical organoids converge on abnormal circuit activity Open
De novo heterozygous loss-of-function mutations in PTEN are strongly associated with Autism spectrum disorders (ASD); however, it is unclear how heterozygous mutations in this gene affects different cell types during human brain developmen…
View article: Organoids as tools for fundamental discovery and translation—a Keystone Symposia report
Organoids as tools for fundamental discovery and translation—a Keystone Symposia report Open
Complex three‐dimensional in vitro organ‐like models, or organoids, offer a unique biological tool with distinct advantages over two‐dimensional cell culture systems, which can be too simplistic, and animal models, which can be too complex…
View article: Proper acquisition of cell class identity in organoids allows definition of fate specification programs of the human cerebral cortex
Proper acquisition of cell class identity in organoids allows definition of fate specification programs of the human cerebral cortex Open
View article: Single-cell multiomics atlas of organoid development uncovers longitudinal molecular programs of cellular diversification of the human cerebral cortex
Single-cell multiomics atlas of organoid development uncovers longitudinal molecular programs of cellular diversification of the human cerebral cortex Open
Realizing the full utility of brain organoids as experimental systems to study human cortical development requires understanding whether organoids replicate the cellular and molecular events of this complex process precisely, reproducibly,…
View article: Human cerebral organoids reveal progenitor pathology in EML1‐linked cortical malformation
Human cerebral organoids reveal progenitor pathology in EML1‐linked cortical malformation Open
View article: Autism genes converge on asynchronous development of shared neuron classes
Autism genes converge on asynchronous development of shared neuron classes Open
View article: Human brain organoids reveal accelerated development of cortical neuron classes as a shared feature of autism risk genes
Human brain organoids reveal accelerated development of cortical neuron classes as a shared feature of autism risk genes Open
Genetic risk for autism spectrum disorder (ASD) has been associated with hundreds of genes spanning a wide range of biological functions. The phenotypic alterations in the human brain resulting from mutations in ASD risk genes remain uncle…
View article: Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia
Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia Open
View article: The neuroanatomy of <i>Eml</i>1 knockout mice, a model of subcortical heterotopia
The neuroanatomy of <i>Eml</i>1 knockout mice, a model of subcortical heterotopia Open
The cerebral cortex is a highly organized structure responsible for advanced cognitive functions. Its development relies on a series of steps including neural progenitor cell proliferation, neuronal migration, axonal outgrowth and brain wi…
View article: Rotatin’ the phenotypes
Rotatin’ the phenotypes Open
International audience
View article: Cortical progenitor biology: key features mediating proliferation versus differentiation
Cortical progenitor biology: key features mediating proliferation versus differentiation Open
The cerebral cortex is a highly organized structure whose development depends on diverse progenitor cell types, namely apical radial glia, intermediate progenitors, and basal radial glia cells, which are responsible for the production of t…
View article: Eml1 loss impairs apical progenitor spindle length and soma shape in the developing cerebral cortex
Eml1 loss impairs apical progenitor spindle length and soma shape in the developing cerebral cortex Open
View article: The assembly of developing motor neurons depends on an interplay between spontaneous activity, type II cadherins and gap junctions
The assembly of developing motor neurons depends on an interplay between spontaneous activity, type II cadherins and gap junctions Open
A core structural and functional motif of the vertebrate central nervous system is discrete clusters of neurons or ‘nuclei’. Yet the developmental mechanisms underlying this fundamental mode of organisation are largely unknown. We have pre…