Faulty RNA splicing: consequences and therapeutic opportunities in brain and muscle disorders

Minor intron splicing is regulated by FUS and affected by ALS‐associated FUS mutants

(2016) Stefan Reber et al.   EMBO JOURNAL

The dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non‐coding RNA and synonymous mutations

(2016) Sven Diederichs et al.   EMBO Molecular Medicine

Defective control of pre–messenger RNA splicing in human disease

(2016) Benoit Chabot et al.   JOURNAL OF CELL BIOLOGY

The importance of genetic diagnosis for Duchenne muscular dystrophy

(2016) Annemieke Aartsma-Rus et al.   JOURNAL OF MEDICAL GENETICS

Schizophrenia

(2016) Michael J Owen et al.   LANCET

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

(2016) Richard S Finkel et al.   LANCET

Misregulation of an Activity-Dependent Splicing Network as a Common Mechanism Underlying Autism Spectrum Disorders

(2016) Mathieu Quesnel-Vallières et al.   MOLECULAR CELL

Precise small-molecule recognition of a toxic CUG RNA repeat expansion

(2016) Suzanne G Rzuczek et al.   Nature Chemical Biology

Alternative polyadenylation of mRNA precursors

(2016) Bin Tian et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease

(2016) Aaron R. Haeusler et al.   NATURE REVIEWS NEUROSCIENCE

Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript

(2016) Alice Todeschini et al.   NEUROMUSCULAR DISORDERS

Cytoplasmic Rbfox1 Regulates the Expression of Synaptic and Autism-Related Genes

(2016) Ji-Ann Lee et al.   NEURON

Protein-RNA Networks Regulated by Normal and ALS-Associated Mutant HNRNPA2B1 in the Nervous System

(2016) Fernando J. Martinez et al.   NEURON

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

(2016) Thomas Koed Doktor et al.   NUCLEIC ACIDS RESEARCH

Role of FET proteins in neurodegenerative disorders

(2016) Francesca Svetoni et al.   RNA Biology

MiR-980 Is a Memory Suppressor MicroRNA that Regulates the Autism-Susceptibility Gene A2bp1

(2016) Tugba Guven-Ozkan et al.   Cell Reports

FUS-mediated regulation of alternative RNA processing in neurons: insights from global transcriptome analysis

(2016) Akio Masuda et al.   Wiley Interdisciplinary Reviews-RNA

Developmental regulation of RNA processing by Rbfox proteins

(2016) John G. Conboy   Wiley Interdisciplinary Reviews-RNA

Sam68 promotes self-renewal and glycolytic metabolism in mouse neural progenitor cells by modulating Aldh1a3 pre-mRNA 3'-end processing

(2016) Piergiorgio La Rosa et al.   eLife

The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains

(2016) Erin G Conlon et al.   eLife

Improvement of SMN2 Pre-mRNA Processing Mediated by Exon-Specific U1 Small Nuclear RNA

(2015) Andrea Dal Mas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biochemical Properties and Biological Functions of FET Proteins

(2015) Jacob C. Schwartz et al.   Annual Review of Biochemistry

Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges

(2015) Giuseppe Marangi et al.   BRAIN RESEARCH

The Long Noncoding RNA Pnky Regulates Neuronal Differentiation of Embryonic and Postnatal Neural Stem Cells

(2015) Alexander D. Ramos et al.   Cell Stem Cell

The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches

(2015) E. Daguenet et al.   EMBO REPORTS

Position-specific binding of FUS to nascent RNA regulates mRNA length

(2015) Akio Masuda et al.   GENES & DEVELOPMENT

Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models

(2015) Yimin Hua et al.   GENES & DEVELOPMENT

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

(2015) Catherine L. Bladen et al.   HUMAN MUTATION

SAM68 is a physiological regulator ofSMN2splicing in spinal muscular atrophy

(2015) Vittoria Pagliarini et al.   JOURNAL OF CELL BIOLOGY

Rationally Designed Small Molecules That Target Both the DNA and RNA Causing Myotonic Dystrophy Type 1

(2015) Lien Nguyen et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

SMN2 splice modulators enhance U1–pre-mRNA association and rescue SMA mice

(2015) James Palacino et al.   Nature Chemical Biology

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

(2015) Mercedes Prudencio et al.   NATURE NEUROSCIENCE

RNA mis-splicing in disease

(2015) Marina M. Scotti et al.   NATURE REVIEWS GENETICS

Mechanisms of Long Non-coding RNAs in Mammalian Nervous System Development, Plasticity, Disease, and Evolution

(2015) James A. Briggs et al.   NEURON

Alternative Splicing in the Mammalian Nervous System: Recent Insights into Mechanisms and Functional Roles

(2015) Bushra Raj et al.   NEURON

TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets

(2015) Emma L. Scotter et al.   Neurotherapeutics

U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish

(2015) Yong Yu et al.   NUCLEIC ACIDS RESEARCH

FUS functions in coupling transcription to splicing by mediating an interaction between RNAP II and U1 snRNP

(2015) Yong Yu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2015) J. P. Ling et al.   SCIENCE

ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP

(2015) Shuying Sun et al.   Nature Communications

Mutations inCDK5RAP2cause Seckel syndrome

(2015) Gökhan Yigit et al.   Molecular Genetics & Genomic Medicine

A Highly Conserved Program of Neuronal Microexons Is Misregulated in Autistic Brains

(2014) Manuel Irimia et al.   CELL

Formation of nuclear bodies by the lncRNA Gomafu-associating proteins Celf3 and SF1

(2014) Akira Ishizuka et al.   GENES TO CELLS

RBFOX and PTBP1 proteins regulate the alternative splicing of micro-exons in human brain transcripts

(2014) Yang I. Li et al.   GENOME RESEARCH

ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects

(2014) Haiyan Qiu et al.   JOURNAL OF CLINICAL INVESTIGATION

Loss of MBNL Leads to Disruption of Developmentally Regulated Alternative Polyadenylation in RNA-Mediated Disease

(2014) Ranjan Batra et al.   MOLECULAR CELL

Huntington's disease is a four-repeat tauopathy with tau nuclear rods

(2014) Marta Fernández-Nogales et al.   NATURE MEDICINE

Context-dependent control of alternative splicing by RNA-binding proteins

(2014) Xiang-Dong Fu et al.   NATURE REVIEWS GENETICS

Coupling mRNA processing with transcription in time and space

(2014) David L. Bentley   NATURE REVIEWS GENETICS

A day in the life of the spliceosome

(2014) A. Gregory Matera et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Disentangling the heterogeneity of autism spectrum disorder through genetic findings

(2014) Shafali S. Jeste et al.   Nature Reviews Neurology

Lomofungin and dilomofungin: inhibitors of MBNL1-CUG RNA binding with distinct cellular effects

(2014) Jason W. Hoskins et al.   NUCLEIC ACIDS RESEARCH

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

SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

(2014) N. A. Naryshkin et al.   SCIENCE

HITS-CLIP and Integrative Modeling Define the Rbfox Splicing-Regulatory Network Linked to Brain Development and Autism

(2014) Sebastien M. Weyn-Vanhentenryck et al.   Cell Reports

A Novel CUGexp·MBNL1 Inhibitor with Therapeutic Potential for Myotonic Dystrophy Type 1

(2013) Amin Haghighat Jahromi et al.   ACS Chemical Biology

Structure of the Myotonic Dystrophy Type 2 RNA and Designed Small Molecules That Reduce Toxicity

(2013) Jessica L. Childs-Disney et al.   ACS Chemical Biology

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials

(2013) Dian K. Nurputra et al.   ANNALS OF HUMAN GENETICS

Spinal muscular atrophy: Development and implementation of potential treatments

(2013) W. David Arnold et al.   ANNALS OF NEUROLOGY

mRNA 3′end processing: A tale of the tail reaches the clinic

(2013) Ina Hollerer et al.   EMBO Molecular Medicine

Long Noncoding RNAs: Past, Present, and Future

(2013) J. T. Y. Kung et al.   GENETICS

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

(2013) Tomohiko Ishihara et al.   HUMAN MOLECULAR GENETICS

ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN

(2013) Ewout J.N. Groen et al.   HUMAN MOLECULAR GENETICS

Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders

(2013) J. Janssens et al.   HUMAN MOLECULAR GENETICS

FUS-mediated alternative splicing in the nervous system: consequences for ALS and FTLD

(2013) Denise Orozco et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

The long non-coding RNA Gomafu is acutely regulated in response to neuronal activation and involved in schizophrenia-associated alternative splicing

(2013) G Barry et al.   MOLECULAR PSYCHIATRY

CPEB1 coordinates alternative 3′-UTR formation with translational regulation

(2013) Felice-Alessio Bava et al.   NATURE

Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons

(2013) Wen-Yuan Wang et al.   NATURE NEUROSCIENCE

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Alternative cleavage and polyadenylation: extent, regulation and function

(2013) Ran Elkon et al.   NATURE REVIEWS GENETICS

Long non-coding RNAs: new players in cell differentiation and development

(2013) Alessandro Fatica et al.   NATURE REVIEWS GENETICS

Mislocalised FUS mutants stall spliceosomal snRNPs in the cytoplasm

(2013) Valeria Gerbino et al.   NEUROBIOLOGY OF DISEASE

Regulation of alternative splicing by local histone modifications: potential roles for RNA-guided mechanisms

(2013) H.-L. Zhou et al.   NUCLEIC ACIDS RESEARCH

Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

(2013) Jonàs Juan-Mateu et al.   PLoS One

Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease

(2013) K. Sathasivam et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43

(2013) E. S. Arnold et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Alternative cleavage and polyadenylation: the long and short of it

(2013) Bin Tian et al.   TRENDS IN BIOCHEMICAL SCIENCES

Cold-induced RNA-binding proteins regulate circadian gene expression by controlling alternative polyadenylation

(2013) Yuting Liu et al.   Scientific Reports

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

(2013) Youn-Bok Lee et al.   Cell Reports

Frontotemporal Dementia: Implications for Understanding Alzheimer Disease

(2013) M. Goedert et al.   Cold Spring Harbor Perspectives in Medicine

The long non-coding RNA nuclear-enriched abundant transcript 1_2 induces paraspeckle formation in the motor neuron during the early phase of amyotrophic lateral sclerosis

(2013) Yoshinori Nishimoto et al.   Molecular Brain

Rbfox1 Downregulation and Altered Calpain 3 Splicing by FRG1 in a Mouse Model of Facioscapulohumeral Muscular Dystrophy (FSHD)

(2013) Mariaelena Pistoni et al.   PLoS Genetics

Antisense suppression of donor splice site mutations in the dystrophin gene transcript

(2013) Sue Fletcher et al.   Molecular Genetics & Genomic Medicine

Origin and evolution of spliceosomal introns

(2012) Igor B Rogozin et al.   Biology Direct

Transcriptome-wide Regulation of Pre-mRNA Splicing and mRNA Localization by Muscleblind Proteins

(2012) Eric T. Wang et al.   CELL

An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function

(2012) Francesco Lotti et al.   CELL

SMN Is Required for Sensory-Motor Circuit Function in Drosophila

(2012) Wendy L. Imlach et al.   CELL

The Poly(A)-Binding Protein Nuclear 1 Suppresses Alternative Cleavage and Polyadenylation Sites

(2012) Mathias Jenal et al.   CELL

An intronic ncRNA-dependent regulation of SORL1 expression affecting A  formation is upregulated in post-mortem Alzheimer's disease brain samples

(2012) E. Ciarlo et al.   Disease Models & Mechanisms

Long non-coding RNAgadd7interacts with TDP-43 and regulatesCdk6mRNA decay

(2012) Xuefeng Liu et al.   EMBO JOURNAL

Cholinergic-associated loss of hnRNP-A/B in Alzheimer's disease impairs cortical splicing and cognitive function in mice

(2012) Amit Berson et al.   EMBO Molecular Medicine

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

(2012) Hitomi Tsuiji et al.   EMBO Molecular Medicine

ELAV mediates 3' UTR extension in the Drosophila nervous system

(2012) V. Hilgers et al.   GENES & DEVELOPMENT

Dual-specificity Tyrosine Phosphorylation-regulated Kinase 1A (Dyrk1A) Modulates Serine/Arginine-rich Protein 55 (SRp55)-promoted Tau Exon 10 Inclusion

(2012) Xiaomin Yin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Long Noncoding RNAs with snoRNA Ends

(2012) Qing-Fei Yin et al.   MOLECULAR CELL

Targeting nuclear RNA for in vivo correction of myotonic dystrophy

(2012) Thurman M. Wheeler et al.   NATURE

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

(2012) Clotilde Lagier-Tourenne et al.   NATURE NEUROSCIENCE

Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy

(2012) Konstantinos Charizanis et al.   NEURON

Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation

(2012) Eleonora de Klerk et al.   NUCLEIC ACIDS RESEARCH

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

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

Pre-mRNA splicing in disease and therapeutics

(2012) Ravi K. Singh et al.   TRENDS IN MOLECULAR MEDICINE

Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain

(2012) Boris Rogelj et al.   Scientific Reports

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

(2012) Tomohiro Yamazaki et al.   Cell Reports

Epigenetics in Alternative Pre-mRNA Splicing

(2011) Reini F. Luco et al.   CELL

The RNA-binding protein Sam68 is a multifunctional player in human cancer

(2011) P. Bielli et al.   ENDOCRINE-RELATED CANCER

A G-to-T Transversion at the Splice Acceptor Site of Dystrophin Exon 14 Shows Multiple Splicing Outcomes That Are Not Exemplified by Transition Mutations

(2011) Mitsunori Ota et al.   Genetic Testing and Molecular Biomarkers

Analysis of alternative splicing associated with aging and neurodegeneration in the human brain

(2011) J. R. Tollervey et al.   GENOME RESEARCH

Coordinated Post-transcriptional Regulation of Hsp70.3 Gene Expression by MicroRNA and Alternative Polyadenylation

(2011) Michael Tranter et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

(2011) Yimin Hua et al.   NATURE

The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain

(2011) Lauren T Gehman et al.   NATURE GENETICS

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

RNA targets of wild-type and mutant FET family proteins

(2011) Jessica I Hoell et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles

(2011) F. Tassone et al.   NUCLEIC ACIDS RESEARCH

Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model

(2011) Natalia N. Singh et al.   RNA Biology

Mechanisms of activation and repression by the alternative splicing factors RBFOX1/2

(2011) S. Sun et al.   RNA

Evolution of SR protein and hnRNP splicing regulatory factors

(2011) Anke Busch et al.   Wiley Interdisciplinary Reviews-RNA

The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy

(2010) Simona Pedrotti et al.   EMBO JOURNAL

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

(2010) Youhna M Ayala et al.   EMBO JOURNAL

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

(2010) Y. Hua et al.   GENES & DEVELOPMENT

A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity

(2010) S. Cho et al.   GENES & DEVELOPMENT

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

(2010) C. Lagier-Tourenne et al.   HUMAN MOLECULAR GENETICS

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center

(2010) Yasuhiro Takeshima et al.   JOURNAL OF HUMAN GENETICS

U1 snRNP protects pre-mRNAs from premature cleavage and polyadenylation

(2010) Daisuke Kaida et al.   NATURE

Repeat instability as the basis for human diseases and as a potential target for therapy

(2010) Arturo López Castel et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy

(2010) Hongqing Du et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

17A, a novel non-coding RNA, regulates GABA B alternative splicing and signaling in response to inflammatory stimuli and in Alzheimer disease

(2010) Sara Massone et al.   NEUROBIOLOGY OF DISEASE

Molecular mechanisms of eukaryotic pre-mRNA 3′ end processing regulation

(2010) Stefania Millevoi et al.   NUCLEIC ACIDS RESEARCH

Olfactory Stem Cells, a New Cellular Model for Studying Molecular Mechanisms Underlying Familial Dysautonomia

(2010) Nathalie Boone et al.   PLoS One

The alternative splicing repressors hnRNP A1/A2 and PTB influence pyruvate kinase isoform expression and cell metabolism

(2010) C. V. Clower et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Integrative Modeling Defines the Nova Splicing-Regulatory Network and Its Combinatorial Controls

(2010) C. Zhang et al.   SCIENCE

Regulation of Alternative Splicing by Histone Modifications

(2010) R. F. Luco et al.   SCIENCE

Alternative Splicing of the Cyclin D1 Proto-Oncogene Is Regulated by the RNA-Binding Protein Sam68

(2009) M. P. Paronetto et al.   CANCER RESEARCH

Pre-mRNA Processing Reaches Back toTranscription and Ahead to Translation

(2009) Melissa J. Moore et al.   CELL

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

An RNA code for the FOX2 splicing regulator revealed by mapping RNA-protein interactions in stem cells

(2009) Gene W Yeo et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes

(2009) S. C. Blumen et al.   NEUROLOGY

Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene

(2009) Berivan Baskin et al.   NEUROMUSCULAR DISORDERS

Reprogramming of 3′ Untranslated Regions of mRNAs by Alternative Polyadenylation in Generation of Pluripotent Stem Cells from Different Cell Types

(2009) Zhe Ji et al.   PLoS One

Pentamidine reverses the splicing defects associated with myotonic dystrophy

(2009) M. B. Warf et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic Mice

(2008) Yimin Hua et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Regulation of SMN Protein Stability

(2008) B. G. Burnett et al.   MOLECULAR AND CELLULAR BIOLOGY

Tau exon 10 alternative splicing and tauopathies

(2008) Fei Liu et al.   Molecular Neurodegeneration

HITS-CLIP yields genome-wide insights into brain alternative RNA processing

(2008) Donny D. Licatalosi et al.   NATURE

Induced ncRNAs allosterically modify RNA-binding proteins in cis to inhibit transcription

(2008) Xiangting Wang et al.   NATURE

Proliferating Cells Express mRNAs with Shortened 3' Untranslated Regions and Fewer MicroRNA Target Sites

(2008) R. Sandberg et al.   SCIENCE

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE