Explanipedia

A data-driven single-cell and spatial transcriptomic map of the human prefrontal cortex Open

Louise A. Huuki-Myers, Abby Spangler, Nicholas J. Eagles, Kelsey D. Montgomery, Sang Ho Kwon , et al. · 2024

The molecular organization of the human neocortex historically has been studied in the context of its histological layers. However, emerging spatial transcriptomic technologies have enabled unbiased identification of transcriptionally defi…

Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain Open

Cindy Wen, Michael Margolis, Rujia Dai, Pan Zhang, Pawel F. Przytycki , et al. · 2024

Neuropsychiatric genome-wide association studies (GWASs), including those for autism spectrum disorder and schizophrenia, show strong enrichment for regulatory elements in the developing brain. However, prioritizing risk genes and mechanis…

Single-cell genomics and regulatory networks for 388 human brains Open

Prashant S. Emani, Jason Liu, Declan Clarke, Matthew Jensen, Jonathan Warrell , et al. · 2024

Single-cell genomics is a powerful tool for studying heterogeneous tissues such as the brain. Yet little is understood about how genetic variants influence cell-level gene expression. Addressing this, we uniformly processed single-nuclei, …

Massively parallel characterization of regulatory elements in the developing human cortex Open

Chengyu Deng, Sean Whalen, Marilyn Steyert, Ryan Ziffra, Pawel F. Przytycki , et al. · 2024

Nucleotide changes in gene regulatory elements are important determinants of neuronal development and diseases. Using massively parallel reporter assays in primary human cells from mid-gestation cortex and cerebral organoids, we interrogat…

Characterization of enhancer activity in early human neurodevelopment using Massively Parallel Reporter Assay (MPRA) and forebrain organoids Open

Davide Capauto, Yifan Wang, Feinan Wu, Scott Norton, Jessica Mariani , et al. · 2024

Enhancer-driven gene regulatory network of forebrain human development provides insights into autism Open

Alexandre Jourdon, Jessica Mariani, Abhiram Natu, Feinan Wu, Boxun Li , et al. · 2023

Summary Cell differentiation is orchestrated by transcription factors (TFs) binding to enhancers, shaping gene regulatory networks that drive neuronal lineage specification. Deciphering these enhancer-driven networks in human forebrain dev…

Author Correction: Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis Open

Alexandre Jourdon, Feinan Wu, Jessica Mariani, Davide Capauto, Scott Norton , et al. · 2023

Characterization of enhancer activity in early human neurodevelopment using Massively parallel reporter assay (MPRA) and forebrain organoids Open

Davide Capauto, Yifan Wang, Feinan Wu, Scott Norton, Jessica Mariani , et al. · 2023

A bstract Regulation of gene expression through enhancers is one of the major processes shaping the structure and function of the human brain during development. High-throughput assays have predicted thousands of enhancers involved in neur…

Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis Open

Alexandre Jourdon, Feinan Wu, Jessica Mariani, Davide Capauto, Scott Norton , et al. · 2023

Massively parallel characterization of psychiatric disorder-associated and cell-type-specific regulatory elements in the developing human cortex Open

Chengyu Deng, Sean Whalen, Marilyn Steyert, Ryan Ziffra, Pawel F. Przytycki , et al. · 2023

Nucleotide changes in gene regulatory elements are important determinants of neuronal development and disease. Using massively parallel reporter assays in primary human cells from mid-gestation cortex and cerebral organoids, we interrogate…

FUS Alters circRNA Metabolism in Human Motor Neurons Carrying the ALS-Linked P525L Mutation Open

Alessio Colantoni, Davide Capauto, Vincenzo Alfano, Eleonora D’Ambra, Sara D’Uva , et al. · 2023

Deregulation of RNA metabolism has emerged as one of the key events leading to the degeneration of motor neurons (MNs) in Amyotrophic Lateral Sclerosis (ALS) disease. Indeed, mutations on RNA-binding proteins (RBPs) or on proteins involved…

A multifunctional locus controls motor neuron differentiation through short and long noncoding RNAs Open

Andrea Carvelli, Adriano Setti, Fabio Desideri, Silvia Giulia Galfrè, Silvia Biscarini , et al. · 2022

ASD modelling in organoids reveals imbalance of excitatory cortical neuron subtypes during early neurogenesis Open

Alexandre Jourdon, Feinan Wu, Jessica Mariani, Davide Capauto, Scott Norton , et al. · 2022

Summary There is no clear genetic etiology or convergent pathophysiology for autism spectrum disorders (ASD). Using cortical organoids and single-cell transcriptomics, we modeled alterations in the formation of the forebrain between sons w…

PsychENCODE and beyond: transcriptomics and epigenomics of brain development and organoids Open

Alexandre Jourdon, Soraya Scuderi, Davide Capauto, Alexej Abyzov, Flora M. Vaccarino · 2020

Exploring the Regulatory Role of Circular RNAs in Neurodegenerative Disorders Open

Eleonora D’Ambra, Davide Capauto, Mariangela Morlando · 2019

Circular RNAs (circRNAs) are a distinctive class of regulatory non-coding RNAs characterised by the presence of covalently closed ends. They are evolutionary conserved molecules, and although detected in different tissues, circRNAs resulte…

A Regulatory Circuitry Between Gria2, miR-409, and miR-495 Is Affected by ALS FUS Mutation in ESC-Derived Motor Neurons Open

Davide Capauto, Alessio Colantoni, Lei Lü, Tiziana Santini, Giovanna Peruzzi , et al. · 2018

Mutations in fused in sarcoma (FUS) cause amyotrophic lateral sclerosis (ALS). FUS is a multifunctional protein involved in the biogenesis and activity of several types of RNAs, and its role in the pathogenesis of ALS may involve both dire…

Characterization of the lncRNA transcriptome in mESC-derived motor neurons: Implications for FUS-ALS Open

Silvia Biscarini, Davide Capauto, Giovanna Peruzzi, Lei Lü, Alessio Colantoni , et al. · 2018

FUS affects circular RNA expression in murine embryonic stem cell-derived motor neurons Open

Lorenzo Errichelli, Stefano Dini Modigliani, Pietro Laneve, Alessio Colantoni, Ivano Legnini , et al. · 2017

The RNA-binding protein FUS participates in several RNA biosynthetic processes and has been linked to the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Here we report that FUS controls back-splicing react…

Drosophila CG3303 is an essential endoribonuclease linked to TDP-43-mediated neurodegeneration Open

Pietro Laneve, Lucia Piacentini, Assunta Maria Casale, Davide Capauto, Ubaldo Gioia , et al. · 2017

DOF AFFECTING GERMINATION 2 is a positive regulator of light-mediated seed germination and is repressed by DOF AFFECTING GERMINATION 1 Open

Silvia Santopolo, Alessandra Boccaccini, Riccardo Lorrai, Veronica Ruta, Davide Capauto , et al. · 2015

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