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

SMN Deficiency Reduces Cellular Ability to Form Stress Granules, Sensitizing Cells to Stress

(2011) Tie Zou et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

The COPI vesicle complex binds and moves with survival motor neuron within axons

(2011) Cyril Jayakumar Peter et al.   HUMAN MOLECULAR GENETICS

The Survival of Motor Neuron (SMN) Protein Interacts with the mRNA-Binding Protein HuD and Regulates Localization of Poly(A) mRNA in Primary Motor Neuron Axons

(2011) C. Fallini et al.   JOURNAL OF NEUROSCIENCE

Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy

(2011) M. A. Passini et al.   Science Translational Medicine

Spinal Muscular Atrophy: New and Emerging Insights from Model Mice

(2010) Gyu-Hwan Park et al.   Current Neurology and Neuroscience Reports

The genetics of spinal muscular atrophies

(2010) Claribel D Wee et al.   CURRENT OPINION IN NEUROLOGY

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

The intronic splicing code: multiple factors involved in ATM pseudoexon definition

(2010) Ashish Dhir et al.   EMBO JOURNAL

The role of RNA processing in the pathogenesis of motor neuron degeneration

(2010) Dirk Bäumer et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Splicing regulation of the Survival Motor Neuron genes and implications for treatment of spinal muscular atrophy

(2010) Thomas et al.   Frontiers in Bioscience-Landmark

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

Antisense oligonucleotides and spinal muscular atrophy: skipping along

(2010) A. H. M. Burghes et al.   GENES & DEVELOPMENT

Global impact of RNA polymerase II elongation inhibition on alternative splicing regulation

(2010) J. Y. Ip et al.   GENOME RESEARCH

Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing

(2010) Ylva Mende et al.   HUMAN MOLECULAR GENETICS

Spinal muscular atrophy: mechanisms and therapeutic strategies

(2010) C. L. Lorson et al.   HUMAN MOLECULAR GENETICS

A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2

(2010) Francine M. Jodelka et al.   HUMAN MOLECULAR GENETICS

TIA1 Prevents Skipping of a Critical Exon Associated with Spinal Muscular Atrophy

(2010) N. N. Singh et al.   MOLECULAR AND CELLULAR BIOLOGY

Crosstalk between mRNA 3′ End Processing and Transcription Initiation

(2010) Christophe K. Mapendano et al.   MOLECULAR CELL

Alternative splicing and evolution: diversification, exon definition and function

(2010) Hadas Keren et al.   NATURE REVIEWS GENETICS

A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy

(2010) Natalia N. Singh et al.   RNA Biology

Repair of pre-mRNA splicing

(2010) Rachel Nlend Nlend et al.   RNA Biology

An antisense microwalk reveals critical role of an intronic position linked to a unique long-distance interaction in pre-mRNA splicing

(2010) N. N. Singh et al.   RNA

The carboxy terminal domain of RNA polymerase II and alternative splicing

(2010) Manuel J. Muñoz et al.   TRENDS IN BIOCHEMICAL SCIENCES

Intron 7 conserved sequence elements regulate the splicing of the SMN genes

(2009) Jordan T. Gladman et al.   HUMAN GENETICS

Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy

(2009) T. D. Baughan et al.   HUMAN MOLECULAR GENETICS

Oligonucleotide-Mediated Survival of Motor Neuron Protein Expression in CNS Improves Phenotype in a Mouse Model of Spinal Muscular Atrophy

(2009) J. H. Williams et al.   JOURNAL OF NEUROSCIENCE

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

Polyadenylation releases mRNA from RNA polymerase II in a process that is licensed by splicing

(2009) F. Rigo et al.   RNA

Differential 3' splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP

(2009) M. Martins de Araujo et al.   RNA

Nuclear networking fashions pre-messenger RNA and primary microRNA transcripts for function

(2009) Jan M. Pawlicki et al.   TRENDS IN CELL BIOLOGY

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

TDP-43 Overexpression Enhances Exon 7 Inclusion during the Survival of Motor Neuron Pre-mRNA Splicing

(2008) Jayarama Krishnan Bose et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The RNA Binding Protein hnRNP Q Modulates the Utilization of Exon 7 in the Survival Motor Neuron 2 (SMN2) Gene

(2008) H.-H. Chen et al.   MOLECULAR AND CELLULAR BIOLOGY

Polypyrimidine tract binding protein controls the transition from exon definition to an intron defined spliceosome

(2008) Shalini Sharma et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Pre-mRNA splicing: a complex picture in higher definition

(2008) Matthew J. Schellenberg et al.   TRENDS IN BIOCHEMICAL SCIENCES