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

Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions

(2015) Rohini Raman et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Decreased number of Gemini of coiled bodies and U12 snRNA level in amyotrophic lateral sclerosis

(2013) Tomohiko Ishihara et al.   HUMAN MOLECULAR GENETICS

Minor splicing pathway is not minor any more: Implications for the pathogenesis of motor neuron diseases

(2013) Osamu Onodera et al.   NEUROPATHOLOGY

Misregulated RNA processing in amyotrophic lateral sclerosis

(2012) Magdalini Polymenidou et al.   BRAIN RESEARCH

The spliceosome: a flexible, reversible macromolecular machine

(2012) Aaron A. Hoskins et al.   TRENDS IN BIOCHEMICAL SCIENCES

TDP-43: gumming up neurons through protein–protein and protein–RNA interactions

(2012) Emanuele Buratti et al.   TRENDS IN BIOCHEMICAL SCIENCES

Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology

(2011) Paul G. Ince et al.   ACTA NEUROPATHOLOGICA

Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice

(2011) Lionel M. Igaz et al.   JOURNAL OF CLINICAL INVESTIGATION

UG Repeats/TDP-43 Interactions near 5′ Splice Sites Exert Unpredictable Effects on Splicing Modulation

(2011) Monica Passoni et al.   JOURNAL OF MOLECULAR BIOLOGY

RNA targets of TDP-43 identified by UV-CLIP are deregulated in ALS

(2011) Shangxi Xiao et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

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

TDP-43 regulates global translational yield by splicing of exon junction complex component SKAR

(2011) Fabienne C. Fiesel et al.   NUCLEIC ACIDS RESEARCH

Interaction between the RNA binding domains of Ser-Arg splicing factor 1 and U1-70K snRNP protein determines early spliceosome assembly

(2011) S. Cho et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Novel FUS/TLS Mutations and Pathology in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2010) Christopher Hewitt et al.   ARCHIVES OF NEUROLOGY

A comparison of massively parallel nucleotide sequencing with oligonucleotide microarrays for global transcription profiling

(2010) James R Bradford et al.   BMC GENOMICS

Identification of Neuronal RNA Targets of TDP-43-containing Ribonucleoprotein Complexes

(2010) Chantelle F. Sephton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TDP-43-Mediated Neuron Loss In Vivo Requires RNA-Binding Activity

(2010) Aaron Voigt et al.   PLoS One

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

(2009) Edor Kabashi et al.   HUMAN MOLECULAR GENETICS

Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis

(2009) G. S. Pesiridis et al.   HUMAN MOLECULAR GENETICS

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Cellular stress and RNA splicing

(2009) Giuseppe Biamonti et al.   TRENDS IN BIOCHEMICAL SCIENCES

The spliceosome: a self-organized macromolecular machine in the nucleus?

(2009) José Rino et al.   TRENDS IN CELL BIOLOGY

SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing

(2008) Zhenxi Zhang et al.   CELL

Structural determinants of the cellular localization and shuttling of TDP-43

(2008) Y. M. Ayala et al.   JOURNAL OF CELL SCIENCE

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

(2008) Vivianna M Van Deerlin et al.   LANCET NEUROLOGY

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

(2008) Qun Pan et al.   NATURE GENETICS

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

(2008) Da Wei Huang et al.   NUCLEIC ACIDS RESEARCH

A yeast TDP-43 proteinopathy model: Exploring the molecular determinants of TDP-43 aggregation and cellular toxicity

(2008) B. S. Johnson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA