SMN in spinal muscular atrophy and snRNP biogenesis

SMN and the Gemin proteins form sub-complexes that localise to both stationary and dynamic neurite granules

(2010) Adrian G. Todd et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Analysis of SMN-neurite granules: Core Cajal body components are absent from SMN-cytoplasmic complexes

(2010) Adrian G. Todd et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Spinal Muscular Atrophy: New and Emerging Insights from Model Mice

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

Structural studies of the spliceosome: blind men and an elephant

(2010) Andrew J Newman et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

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

Carrier testing for spinal muscular atrophy

(2010) Jonathan M Gitlin et al.   GENETICS IN MEDICINE

SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy

(2010) Thomas M. Wishart et al.   HUMAN MOLECULAR GENETICS

Cardiac defects contribute to the pathology of spinal muscular atrophy models

(2010) Monir Shababi et al.   HUMAN MOLECULAR GENETICS

Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery

(2010) Adam K. Bevan et al.   HUMAN MOLECULAR GENETICS

Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model

(2010) Mélissa Bowerman et al.   HUMAN MOLECULAR GENETICS

Spinal muscular atrophy: mechanisms and therapeutic strategies

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

The heterogeneous nuclear ribonucleoprotein-R is necessary for axonal β-actin mRNA translocation in spinal motor neurons

(2010) Michael Glinka et al.   HUMAN MOLECULAR GENETICS

A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype

(2010) Jordan T. Gladman et al.   HUMAN MOLECULAR GENETICS

SMN, Gemin2 and Gemin3 Associate with β-Actin mRNA in the Cytoplasm of Neuronal Cells In Vitro

(2010) Adrian G. Todd et al.   JOURNAL OF MOLECULAR BIOLOGY

Trans-Splicing-Mediated Improvement in a Severe Mouse Model of Spinal Muscular Atrophy

(2010) T. H. Coady et al.   JOURNAL OF NEUROSCIENCE

Gemin5 Delivers snRNA Precursors to the SMN Complex for snRNP Biogenesis

(2010) Jeongsik Yong et al.   MOLECULAR CELL

Spinal Muscular Atrophy: Newborn and Carrier Screening

(2010) Thomas W. Prior   OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA

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

Spinal Muscular Atrophy: Molecular Mechanisms

(2009) M. Farrar et al.   CURRENT MOLECULAR MEDICINE

Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects

(2009) Kum-Loong Boon et al.   HUMAN MOLECULAR GENETICS

Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy

(2009) Lyndsay M. Murray et al.   HUMAN MOLECULAR 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

A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice

(2009) Eileen Workman et al.   HUMAN MOLECULAR GENETICS

Role of Survival Motor Neuron Complex Components in Small Nuclear Ribonucleoprotein Assembly

(2009) Chihiro Ogawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Is RNA manipulation a viable therapy for spinal muscular atrophy?

(2009) Christopher Horne et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

SMN, profilin IIa and plastin 3: A link between the deregulation of actin dynamics and SMA pathogenesis

(2009) Mélissa Bowerman et al.   MOLECULAR AND CELLULAR 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

Gemin5-snRNA interaction reveals an RNA binding function for WD repeat domains

(2009) Chi-kong Lau et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Restoration of Full-Length SMN Promoted by Adenoviral Vectors Expressing RNA Antisense Oligonucleotides Embedded in U7 snRNAs

(2009) Till Geib et al.   PLoS One

Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy

(2009) Dirk Bäumer et al.   PLoS Genetics

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

Joining the dots: Production, processing and targeting of U snRNP to nuclear bodies

(2008) Debra J. Shaw et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

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

(2008) Zhenxi Zhang et al.   CELL

An Assembly Chaperone Collaborates with the SMN Complex to Generate Spliceosomal SnRNPs

(2008) Ashwin Chari et al.   CELL

Deciphering the assembly pathway of Sm-class U snRNPs

(2008) Nils Neuenkirchen et al.   FEBS LETTERS

A Negatively Acting Bifunctional RNA Increases Survival Motor Neuron Both In Vitro and In Vivo

(2008) Alexa Dickson et al.   HUMAN GENE THERAPY

Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation

(2008) Kathrin Meyer et al.   HUMAN MOLECULAR GENETICS

Embryonic motor axon development in the severe SMA mouse

(2008) V. L. McGovern et al.   HUMAN MOLECULAR GENETICS

Identifying specific protein interaction partners using quantitative mass spectrometry and bead proteomes

(2008) Laura Trinkle-Mulcahy et al.   JOURNAL OF CELL BIOLOGY

Regulation of SMN Protein Stability

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

A SMNΔ7 read-through product confers functionality to the SMNΔ7 protein

(2008) Virginia B. Mattis et al.   NEUROSCIENCE LETTERS

Spinal muscular atrophy

(2008) Maryam Oskoui et al.   Neurotherapeutics

Clinical Trials in Spinal Muscular Atrophy

(2008) Petra Kaufmann et al.   Physical Medicine and Rehabilitation Clinics of North America

Development of a Single Vector System that Enhances Trans-Splicing of SMN2 Transcripts

(2008) Tristan H. Coady et al.   PLoS One

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

(2008) G. E. Oprea et al.   SCIENCE