A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular Atrophy

Prospects for the gene therapy of spinal muscular atrophy

(2011) Marco A. Passini et al.   TRENDS IN MOLECULAR MEDICINE

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

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

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

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

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

HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects

(2010) Lisa Hubers 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

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

(2010) S. Bernal et al.   JOURNAL OF MEDICAL GENETICS

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

(2009) Thomas W. Prior et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The role of RNP biogenesis in spinal muscular atrophy

(2009) Ashwin Chari et al.   CURRENT OPINION IN CELL BIOLOGY

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

(2009) Eileen Workman et al.   HUMAN MOLECULAR GENETICS

A rareSMN2variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

(2009) Myriam Vezain et al.   HUMAN MUTATION

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

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

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

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

(2009) Dirk Bäumer et al.   PLoS Genetics

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

Embryonic motor axon development in the severe SMA mouse

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

Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy

(2008) Stefania Corti et al.   JOURNAL OF CLINICAL INVESTIGATION

Spinal muscular atrophy

(2008) Mitchell R Lunn et al.   LANCET

Regulation of SMN Protein Stability

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