ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair

Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis

(2018) Pietro Fratta et al.   EMBO JOURNAL

TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD

(2018) Matthew A. White et al.   NATURE NEUROSCIENCE

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

Salmon provides fast and bias-aware quantification of transcript expression

(2017) Rob Patro et al.   NATURE METHODS

Massive transcriptome sequencing of human spinal cord tissues provides new insights into motor neuron degeneration in ALS

(2017) Anna Maria D’Erchia et al.   Scientific Reports

Stathmin 1/2-triggered microtubule loss mediates Golgi fragmentation in mutant SOD1 motor neurons

(2016) Sarah Bellouze et al.   Molecular Neurodegeneration

CHOPCHOP v2: a web tool for the next generation of CRISPR genome engineering

(2016) Kornel Labun et al.   NUCLEIC ACIDS RESEARCH

From transcriptomic to protein level changes in TDP-43 and FUS loss-of-function cell models

(2015) Claudia Colombrita et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Neuronal stathmins: A family of phosphoproteins cooperating for neuronal development, plasticity and regeneration

(2015) Stéphanie Chauvin et al.   PROGRESS IN NEUROBIOLOGY

TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD

(2015) J. P. Ling et al.   SCIENCE

Pathways Disrupted in Human ALS Motor Neurons Identified through Genetic Correction of Mutant SOD1

(2014) Evangelos Kiskinis et al.   Cell Stem Cell

How to make spinal motor neurons

(2014) B. N. Davis-Dusenbery et al.   DEVELOPMENT

Neuronal morphometry directly from bitmap images

(2014) Tiago A Ferreira et al.   NATURE METHODS

Neuronal Matrix Metalloproteinase-9 Is a Determinant of Selective Neurodegeneration

(2014) Artem Kaplan et al.   NEURON

Axonal Transport of TDP-43 mRNA Granules Is Impaired by ALS-Causing Mutations

(2014) Nael H. Alami et al.   NEURON

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

(2014) Bradley N. Smith et al.   NEURON

Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones

(2014) J. Robin Highley et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis

(2014) C. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic validation of a therapeutic target in a mouse model of ALS

(2014) A. S. de Boer et al.   Science Translational Medicine

Dynamic regulation of SCG10 in regenerating axons after injury

(2013) Jung Eun Shin et al.   EXPERIMENTAL NEUROLOGY

Tat-activating regulatory DNA-binding protein regulates glycolysis in hepatocellular carcinoma by regulating the platelet isoform of phosphofructokinase through microRNA 520

(2013) Yun-Yong Park et al.   HEPATOLOGY

Accelerated High-Yield Generation of Limb-Innervating Motor Neurons from Human Stem Cells

(2013) M. W. Amoroso et al.   JOURNAL OF NEUROSCIENCE

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling et al.   NEURON

Downregulation of MicroRNA-9 in iPSC-Derived Neurons of FTD/ALS Patients with TDP-43 Mutations

(2013) Zhijun Zhang et al.   PLoS One

Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy

(2013) A. Serio et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deciphering amyotrophic lateral sclerosis: What phenotype, neuropathology and genetics are telling us about pathogenesis

(2013) John Ravits et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Detecting differential usage of exons from RNA-seq data

(2012) S. Anders et al.   GENOME RESEARCH

Over-expression of RCAN1 causes Down syndrome-like hippocampal deficits that alter learning and memory

(2012) Katherine R. Martin et al.   HUMAN MOLECULAR GENETICS

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

Alteration of POLDIP3 Splicing Associated with Loss of Function of TDP-43 in Tissues Affected with ALS

(2012) Atsushi Shiga et al.   PLoS One

Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability

(2012) B. Bilican et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

SCG10 is a JNK target in the axonal degeneration pathway

(2012) J. E. Shin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Drug Screening for ALS Using Patient-Specific Induced Pluripotent Stem Cells

(2012) N. Egawa et al.   Science Translational Medicine

Conversion of Mouse and Human Fibroblasts into Functional Spinal Motor Neurons

(2011) Esther Y. Son et al.   Cell Stem Cell

A functionally characterized test set of human induced pluripotent stem cells

(2011) Gabriella L Boulting et al.   NATURE BIOTECHNOLOGY

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

(2011) Magdalini Polymenidou et al.   NATURE NEUROSCIENCE

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43

(2011) James R Tollervey et al.   NATURE NEUROSCIENCE

Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration

(2011) Edward B. Lee et al.   NATURE REVIEWS NEUROSCIENCE

Constructing and Deconstructing Stem Cell Models of Neurological Disease

(2011) Steve S.W. Han et al.   NEURON

Cell-Surface Marker Signatures for the Isolation of Neural Stem Cells, Glia and Neurons Derived from Human Pluripotent Stem Cells

(2011) Shauna H. Yuan et al.   PLoS One

Cytoplasmic Accumulation and Aggregation of TDP-43 upon Proteasome Inhibition in Cultured Neurons

(2011) Janet van Eersel et al.   PLoS One

Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis

(2010) Brian C. Kraemer et al.   ACTA NEUROPATHOLOGICA

Methamphetamine-induced neuronal protein NAT8L is the NAA biosynthetic enzyme: Implications for specialized acetyl coenzyme A metabolism in the CNS

(2010) Prasanth S. Ariyannur et al.   BRAIN RESEARCH

Sporadic ALS has compartment-specific aberrant exon splicing and altered cell–matrix adhesion biology

(2009) Stuart J. Rabin et al.   HUMAN MOLECULAR GENETICS

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE