Spliceosome integrity is defective in the motor neuron diseases ALS and SMA

U1 snRNP Determines mRNA Length and Regulates Isoform Expression

(2012) Michael G. Berg et al.   CELL

Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies

(2012) Shingo Kariya et al.   HUMAN MOLECULAR GENETICS

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

SMN1 gene duplications are associated with sporadic ALS

(2012) H. M. Blauw et al.   NEUROLOGY

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA

(2012) Tomohiro Yamazaki et al.   Cell Reports

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

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

(2011) Peter M. Andersen et al.   Nature Reviews Neurology

Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins

(2011) Konstantinos Tripsianes et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Biogenesis and function of nuclear bodies

(2011) Yuntao S. Mao et al.   TRENDS IN GENETICS

TDP-43 regulates its mRNA levels through a negative feedback loop

(2010) Youhna M Ayala et al.   EMBO JOURNAL

Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type I SMA patient

(2010) Nawal Boulisfane et al.   HUMAN MOLECULAR GENETICS

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

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

TAR DNA-binding protein 43 in neurodegenerative disease

(2010) Alice S. Chen-Plotkin et al.   Nature Reviews Neurology

Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice

(2010) X. Shan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RNA metabolism and the pathogenesis of motor neuron diseases

(2010) Robin Lemmens et al.   TRENDS IN NEUROSCIENCES

Rethinking ALS: The FUS about TDP-43

(2009) Clotilde Lagier-Tourenne et al.   CELL

RNA and Disease

(2009) Thomas A. Cooper et al.   CELL

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6

(2009) Fabienne C Fiesel et al.   EMBO JOURNAL

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

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

Paraspeckles: nuclear bodies built on long noncoding RNA

(2009) Charles S. Bond et al.   JOURNAL OF CELL BIOLOGY

TDP-43 localizes in mRNA transcription and processing sites in mammalian neurons

(2009) Iñigo Casafont et al.   JOURNAL OF STRUCTURAL BIOLOGY

Genetics of motor neuron disorders: new insights into pathogenic mechanisms

(2009) Patrick A. Dion et al.   NATURE REVIEWS GENETICS

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

(2009) Arthur H. M. Burghes et al.   NATURE REVIEWS NEUROSCIENCE

Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo

(2009) A. D'Ambrogio et al.   NUCLEIC ACIDS RESEARCH

Is Good Housekeeping the Key to Motor Neuron Survival?

(2008) Kevin Talbot et al.   CELL

Chromatin Dynamics and Gene Positioning

(2008) R. Ileng Kumaran et al.   CELL

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

(2008) Zhenxi Zhang et al.   CELL

Ribonucleoprotein complexes in neurologic diseases

(2008) Jernej Ule   CURRENT OPINION IN NEUROBIOLOGY

Induced pluripotent stem cells from a spinal muscular atrophy patient

(2008) Allison D. Ebert et al.   NATURE