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Equal Numbers of Neuronal and Nonneuronal Cells Make the Human Brain an Isometrically Scaled-Up Primate Brain
Frederico A. C. Azevedo et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2009)
Cross-Seeding Fibrillation of Q/N-Rich Proteins Offers New Pathomechanism of Polyglutamine Diseases
Yoshiaki Furukawa et al.
JOURNAL OF NEUROSCIENCE (2009)
Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches
Mo Chen et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2009)
Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort
N. Ticozzi et al.
NEUROLOGY (2009)
Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo
Andrea D'Ambrogio et al.
NUCLEIC ACIDS RESEARCH (2009)
Structural insights into TDP-43 in nucleic-acid binding and domain interactions
Pan-Hsien Kuo et al.
NUCLEIC ACIDS RESEARCH (2009)
Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity
Yong-Jie Zhang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
Caroline Vance et al.
SCIENCE (2009)
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
T. J. Kwiatkowski et al.
SCIENCE (2009)
The TET Family of Proteins: Functions and Roles in Disease
Adelene Y. Tan et al.
JOURNAL OF MOLECULAR CELL BIOLOGY (2009)
Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome
Jocelyn N. Galloway et al.
FUTURE NEUROLOGY (2009)
Enrichment of C-terminal fragments in TAR DNA-binding protein-43 cytoplasmic inclusions in brain but not in spinal cord of frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Lionel M. Igaz et al.
AMERICAN JOURNAL OF PATHOLOGY (2008)
SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing
Zhenxi Zhang et al.
CELL (2008)
Disturbance of nuclear and cytoplasmic TAR DNA-binding protein (TDP-43) induces disease-like redistribution, sequestration, and aggregate formation
Matthew J. Winton et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
TDP-43 is a culprit in human neurodegeneration, and not just an innocent bystander
Gareth T. Banks et al.
MAMMALIAN GENOME (2008)
HITS-CLIP yields genome-wide insights into brain alternative RNA processing
Donny D. Licatalosi et al.
NATURE (2008)
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
Edor Kabashi et al.
NATURE GENETICS (2008)
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
Jemeen Sreedharan et al.
SCIENCE (2008)
In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile x mental retardation protein
Nathalie Piazzon et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin T
M. Bryan Warf et al.
RNA (2007)
Edc3p and a glutamine/asparagine-rich domain of Lsm4p function in processing body assembly in Saccharomyces cerevisiae
Carolyn J. Decker et al.
JOURNAL OF CELL BIOLOGY (2007)
Pur α binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome
Peng Jin et al.
NEURON (2007)
RNA-Binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS
Oyinkan A. Sofola et al.
NEURON (2007)
Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs
Yuan Yuan et al.
NUCLEIC ACIDS RESEARCH (2007)
Molecular functions of the SMN complex
Stephen J. Kolb et al.
JOURNAL OF CHILD NEUROLOGY (2007)
PTB/nPTB switch: a post-transcriptional mechanism for programming neuronal differentiation
Gabriela C. Coutinho-Mansfield et al.
GENES & DEVELOPMENT (2007)
Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations
Ian R. A. Mackenzie et al.
ANNALS OF NEUROLOGY (2007)
Chaperoning ribonucleoprotein biogenesis in health and disease
Livio Pellizzoni
EMBO REPORTS (2007)
Enhancement of SMN2 Exon 7 inclusion by antisense oligonucleotides targeting the exon
Yimin Hua et al.
PLOS BIOLOGY (2007)
Huntington's disease-like 2 is associated with CUG repeat-containing RNA foci
Dobrila D. Rudnicki et al.
ANNALS OF NEUROLOGY (2007)
Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets
Jacelk Krol et al.
MOLECULAR CELL (2007)
Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules
Ute Nonhoff et al.
MOLECULAR BIOLOGY OF THE CELL (2007)
TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Tetsuaki Arai et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2006)
CUG-BP1/CELF1 requires UGU-rich sequences for high-affinity binding
Julien Marquis et al.
BIOCHEMICAL JOURNAL (2006)
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Manuela Neumann et al.
SCIENCE (2006)
Neuronal RNA granules: Movers and makers
Michael A. Kiebler et al.
NEURON (2006)
Protein composition of the intranuclear inclusions of FXTAS
CK Iwahashi et al.
BRAIN (2006)
The structural basis of myotonic dystrophy from the crystal structure of CUG repeats
BHM Mooers et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail - An important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing
E Buratti et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
The AUUCU repeats responsible for spinocerebellar ataxia type 10 form unusual RNA hairpins
V Handa et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Human, Drosophila, and C-elegans TDP43:: Nucleic acid binding properties and splicing regulatory function
YM Ayala et al.
JOURNAL OF MOLECULAR BIOLOGY (2005)
The RNA binding protein TLS is translocated to dendritic spines by mGluR5 activation and regulates spine morphology
R Fujii et al.
CURRENT BIOLOGY (2005)
Biased alternative polyadenylation in human tissues
HB Zhang et al.
GENOME BIOLOGY (2005)
Hairpin structure-forming propensity of the (CCTG•CAGG) tetranucleotide repeats contributes to the genetic instability associated with myotonic dystrophy type 2
R Dere et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons
H Jiang et al.
HUMAN MOLECULAR GENETICS (2004)
Variation in alternative splicing across human tissues
G Yeo et al.
GENOME BIOLOGY (2004)
A muscleblind knockout model for myotonic dystrophy
RN Kanadia et al.
SCIENCE (2003)
CLIP identifies Nova-regulated RNA networks in the brain
J Ule et al.
SCIENCE (2003)
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
T Kashima et al.
NATURE GENETICS (2003)
Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy:: three SMN2 copies fail to rescue some patients from the disease severity
Y Harada et al.
JOURNAL OF NEUROLOGY (2002)
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
L Cartegni et al.
NATURE GENETICS (2002)
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2
SE Holmes et al.
NATURE GENETICS (2001)
Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function
JC Darnell et al.
CELL (2001)
Alternative RNA splicing in the nervous system
PJ Grabowski et al.
PROGRESS IN NEUROBIOLOGY (2001)
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
CL Liquori et al.
SCIENCE (2001)
Medical progress: Amyotrophic lateral sclerosis.
LP Rowland et al.
NEW ENGLAND JOURNAL OF MEDICINE (2001)
Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
E Buratti et al.
EMBO JOURNAL (2001)
RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1
NA Timchenko et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Identification of an RNA binding specificity for the potential splicing factor TLS
A Lerga et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability
KB Jensen et al.
NEURON (2000)
Understanding the molecular basis of fragile X syndrome
P Jin et al.
HUMAN MOLECULAR GENETICS (2000)
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