ELAVL4, splicing, and glutamatergic dysfunction precede neuron loss in MAPT mutation cerebral organoids

TIA1 potentiates tau phase separation and promotes generation of toxic oligomeric tau

(2021) Peter E. A. Ash et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tau aggregates are RNA-protein assemblies that mislocalize multiple nuclear speckle components

(2021) Evan Lester et al.   NEURON

Cell stress in cortical organoids impairs molecular subtype specification

(2020) Aparna Bhaduri et al.   NATURE

Chromatin accessibility dynamics in a model of human forebrain development

(2020) Alexandro E. Trevino et al.   SCIENCE

Translational derepression of Elavl4 isoforms at their alternative 5′ UTRs determines neuronal development

(2020) Tatiana Popovitchenko et al.   Nature Communications

dream: Powerful differential expression analysis for repeated measures designs

(2020) Gabriel E Hoffman et al.   BIOINFORMATICS

Prolonged tau clearance and stress vulnerability rescue by pharmacological activation of autophagy in tauopathy neurons

(2020) M. Catarina Silva et al.   Nature Communications

Reference-based analysis of lung single-cell sequencing reveals a transitional profibrotic macrophage

(2019) Dvir Aran et al.   NATURE IMMUNOLOGY

Toward a Glutamate Hypothesis of Frontotemporal Dementia

(2019) Alberto Benussi et al.   Frontiers in Neuroscience

Comprehensive Integration of Single-Cell Data

(2019) Tim Stuart et al.   CELL

Individual brain organoids reproducibly form cell diversity of the human cerebral cortex

(2019) Silvia Velasco et al.   NATURE

Neuroinflammation in frontotemporal dementia

(2019) Fiona Bright et al.   Nature Reviews Neurology

A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation

(2019) Damon Polioudakis et al.   NEURON

Mutant FUS and ELAVL4 (HuD) Aberrant Crosstalk in Amyotrophic Lateral Sclerosis

(2019) Riccardo De Santis et al.   Cell Reports

Intersection of pathological tau and microglia at the synapse

(2019) Thomas Vogels et al.   Acta Neuropathologica Communications

Pathogenic Tau Impairs Axon Initial Segment Plasticity and Excitability Homeostasis

(2019) Peter Dongmin Sohn et al.   NEURON

N-terminal alternative splicing of GluN1 regulates the maturation of excitatory synapses and seizure susceptibility

(2019) Hong Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Back to the origins: Human brain organoids to investigate neurodegeneration

(2019) I. Faravelli et al.   BRAIN RESEARCH

Organoid single-cell genomic atlas uncovers human-specific features of brain development

(2019) Sabina Kanton et al.   NATURE

A Comprehensive Resource for Induced Pluripotent Stem Cells from Patients with Primary Tauopathies

(2019) Celeste M. Karch et al.   Stem Cell Reports

Pathological Progression Induced by the Frontotemporal Dementia-Associated R406W Tau Mutation in Patient-Derived iPSCs

(2019) Mari Nakamura et al.   Stem Cell Reports

Preferential tau aggregation in von Economo neurons and fork cells in frontotemporal lobar degeneration with specific MAPT variants

(2019) Li-Chun Lin et al.   Acta Neuropathologica Communications

Dysregulation of RNA Splicing in Tauopathies

(2019) Daniel J. Apicco et al.   Cell Reports

Biological, Neuroimaging, and Neurophysiological Markers in Frontotemporal Dementia: Three Faces of the Same Coin

(2018) Barbara Borroni et al.   JOURNAL OF ALZHEIMERS DISEASE

HuD Is a Neural Translation Enhancer Acting on mTORC1-Responsive Genes and Counteracted by the Y3 Small Non-coding RNA

(2018) Toma Tebaldi et al.   MOLECULAR CELL

Integrating single-cell transcriptomic data across different conditions, technologies, and species

(2018) Andrew Butler et al.   NATURE BIOTECHNOLOGY

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

(2018) Yingxiao Shi et al.   NATURE MEDICINE

Tau Kinetics in Neurons and the Human Central Nervous System

(2018) Chihiro Sato et al.   NEURON

The role of lysosomes and autophagosomes in frontotemporal lobar degeneration

(2018) H. D. C. Bain et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Precise temporal regulation of alternative splicing during neural development

(2018) Sebastien M. Weyn-Vanhentenryck et al.   Nature Communications

Unraveling the Pathways to Neuronal Homeostasis and Disease: Mechanistic Insights into the Role of RNA-Binding Proteins and Associated Factors

(2018) Stylianos Ravanidis et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Modeling amyloid beta and tau pathology in human cerebral organoids

(2018) Cesar Gonzalez et al.   MOLECULAR PSYCHIATRY

Genetically Engineered iPSC-Derived FTDP-17 MAPT Neurons Display Mutation-Specific Neurodegenerative and Neurodevelopmental Phenotypes

(2018) An Verheyen et al.   Stem Cell Reports

Reliability of human cortical organoid generation

(2018) Se-Jin Yoon et al.   NATURE METHODS

Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP

(2018) Shan Jiang et al.   Translational Psychiatry

Relative Incidence of Seizures and Myoclonus in Alzheimer’s Disease, Dementia with Lewy Bodies, and Frontotemporal Dementia

(2017) Alexander J. Beagle et al.   JOURNAL OF ALZHEIMERS DISEASE

Guided self-organization and cortical plate formation in human brain organoids

(2017) Madeline A Lancaster et al.   NATURE BIOTECHNOLOGY

Annotation-free quantification of RNA splicing using LeafCutter

(2017) Yang I. Li et al.   NATURE GENETICS

Simultaneous epitope and transcriptome measurement in single cells

(2017) Marlon Stoeckius et al.   NATURE METHODS

Reversed graph embedding resolves complex single-cell trajectories

(2017) Xiaojie Qiu et al.   NATURE METHODS

Frontotemporal dementia with the V337M MAPT mutation

(2017) Salvatore Spina et al.   NEUROLOGY

Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target

(2017) B. Borroni et al.   Scientific Reports

Self-Organized Cerebral Organoids with Human-Specific Features Predict Effective Drugs to Combat Zika Virus Infection

(2017) Momoko Watanabe et al.   Cell Reports

QuPath: Open source software for digital pathology image analysis

(2017) Peter Bankhead et al.   Scientific Reports

Brain-Region-Specific Organoids Using Mini-bioreactors for Modeling ZIKV Exposure

(2016) Xuyu Qian et al.   CELL

Genetics of Frontotemporal Dementia

(2016) Diana A. Olszewska et al.   Current Neurology and Neuroscience Reports

Phosphatidylinositol 3‐phosphates—at the interface between cell signalling and membrane traffic

(2016) Andrea L Marat et al.   EMBO JOURNAL

Tau physiology and pathomechanisms in frontotemporal lobar degeneration

(2016) Liviu-Gabriel Bodea et al.   JOURNAL OF NEUROCHEMISTRY

Purification and Characterization of Progenitor and Mature Human Astrocytes Reveals Transcriptional and Functional Differences with Mouse

(2016) Ye Zhang et al.   NEURON

Interaction of tau with the RNA-Binding Protein TIA1 Regulates tau Pathophysiology and Toxicity

(2016) Tara Vanderweyde et al.   Cell Reports

Regulatory consequences of neuronal ELAV-like protein binding to coding and non-coding RNAs in human brain

(2016) Claudia Scheckel et al.   eLife

Human iPSC-Derived Neuronal Model of Tau-A152T Frontotemporal Dementia Reveals Tau-Mediated Mechanisms of Neuronal Vulnerability

(2016) M. Catarina Silva et al.   Stem Cell Reports

Autophagic and lysosomal defects in human tauopathies: analysis of post-mortem brain from patients with familial Alzheimer disease, corticobasal degeneration and progressive supranuclear palsy

(2016) Antonio Piras et al.   Acta Neuropathologica Communications

Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients withMAPTmutations

(2015) Mariangela Iovino et al.   BRAIN

In vivo characterization of metabotropic glutamate receptor type 5 abnormalities in behavioral variant FTD

(2015) Antoine Leuzy et al.   Brain Structure & Function

Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT

(2015) Teresa Sposito et al.   HUMAN MOLECULAR GENETICS

Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells

(2015) Melissa C. Wren et al.   Molecular Neurodegeneration

Functional cortical neurons and astrocytes from human pluripotent stem cells in 3D culture

(2015) Anca M Paşca et al.   NATURE METHODS

Invited review: Frontotemporal dementia caused bymicrotubule-associated protein taugene (MAPT) mutations: a chameleon for neuropathology and neuroimaging

(2015) Bernardino Ghetti et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Human cerebral organoids recapitulate gene expression programs of fetal neocortex development

(2015) J. Gray Camp et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia

(2015) Alberto Benussi et al.   Frontiers in Aging Neuroscience

Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein

(2015) Marc Ehrlich et al.   Stem Cell Reports

Prenatal Deletion of the RNA-Binding Protein HuD Disrupts Postnatal Cortical Circuit Maturation and Behavior

(2014) E. M. DeBoer et al.   JOURNAL OF NEUROSCIENCE

Tau-Mediated NMDA Receptor Impairment Underlies Dysfunction of a Selectively Vulnerable Network in a Mouse Model of Frontotemporal Dementia

(2014) Brian A. Warmus et al.   JOURNAL OF NEUROSCIENCE

The dynamics and regulators of cell fate decisions are revealed by pseudotemporal ordering of single cells

(2014) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

featureCounts: an efficient general purpose program for assigning sequence reads to genomic features

(2013) Y. Liao et al.   BIOINFORMATICS

PIKfyve, a Class III PI Kinase, Is the Target of the Small Molecular IL-12/IL-23 Inhibitor Apilimod and a Player in Toll-like Receptor Signaling

(2013) Xinming Cai et al.   CHEMISTRY & BIOLOGY

Cerebral organoids model human brain development and microcephaly

(2013) Madeline A. Lancaster et al.   NATURE

Emerging complexity of the HuD/ELAVl4 gene; implications for neuronal development, function, and dysfunction

(2013) L. M. Bronicki et al.   RNA

Genetic Correction of Tauopathy Phenotypes in Neurons Derived from Human Induced Pluripotent Stem Cells

(2013) Helen Fong et al.   Stem Cell Reports

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

The ALS disease protein TDP-43 is actively transported in motor neuron axons and regulates axon outgrowth

(2012) Claudia Fallini et al.   HUMAN MOLECULAR GENETICS

Neuronal Elav-like (Hu) Proteins Regulate RNA Splicing and Abundance to Control Glutamate Levels and Neuronal Excitability

(2012) Gulayse Ince-Dunn et al.   NEURON

Identification of a Novel Signaling Pathway and Its Relevance for GluA1 Recycling

(2012) Guiscard Seebohm et al.   PLoS One

The Phosphoinositide Kinase PIKfyve Is Vital in Early Embryonic Development

(2011) Ognian C. Ikonomov et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Hu proteins regulate alternative splicing by inducing localized histone hyperacetylation in an RNA-dependent manner

(2011) H.-L. Zhou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Synapse loss in dementias

(2010) Ryan Clare et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Flip and Flop: A Molecular Determinant for AMPA Receptor Channel Opening†

(2009) Weimin Pei et al.   BIOCHEMISTRY

Tau fragmentation, aggregation and clearance: the dual role of lysosomal processing

(2009) Yipeng Wang et al.   HUMAN MOLECULAR GENETICS

Randomized, double-blind, placebo-controlled trial of the oral interleukin-12/23 inhibitor apilimod mesylate for treatment of active Crohnʼs disease

(2009) Bruce E. Sands et al.   INFLAMMATORY BOWEL DISEASES

The heritability and genetics of frontotemporal lobar degeneration

(2009) J. D. Rohrer et al.   NEUROLOGY

Novel recognition motifs and biological functions of the RNA-binding protein HuD revealed by genome-wide identification of its targets

(2009) Federico Bolognani et al.   NUCLEIC ACIDS RESEARCH

Ionotropic Glutamate Receptors & CNS Disorders

(2008) Derek Bowie   CNS & Neurological Disorders-Drug Targets

Activity-dependent expression of ELAV/Hu RBPs and neuronal mRNAs in seizure and cocaine brain

(2008) Dhanrajan M. Tiruchinapalli et al.   JOURNAL OF NEUROCHEMISTRY

Stress granules: the Tao of RNA triage

(2008) Paul Anderson et al.   TRENDS IN BIOCHEMICAL SCIENCES