Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects

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

(2009) Eileen Workman et al.   HUMAN MOLECULAR GENETICS

SV2 Renders Primed Synaptic Vesicles Competent for Ca2+-Induced Exocytosis

(2009) W.-P. Chang et al.   JOURNAL OF NEUROSCIENCE

Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice

(2009) L. Kong et al.   JOURNAL OF NEUROSCIENCE

Characterization of housekeeping genes in zebrafish: male-female differences and effects of tissue type, developmental stage and chemical treatment

(2008) Amy T McCurley et al.   BMC MOLECULAR BIOLOGY

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

(2008) Zhenxi Zhang et al.   CELL

Quantitative analysis of snoRNA association with pre-ribosomes and release of snR30 by Rok1 helicase

(2008) Markus T Bohnsack et al.   EMBO REPORTS

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

(2008) T. O. Gavrilina et al.   HUMAN MOLECULAR GENETICS

Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan

(2008) M. Briese et al.   HUMAN MOLECULAR GENETICS

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

(2008) Shingo Kariya et al.   HUMAN MOLECULAR GENETICS

Embryonic motor axon development in the severe SMA mouse

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

Regulation of SMN Protein Stability

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

Actin in action: the interplay between the actin cytoskeleton and synaptic efficacy

(2008) Lorenzo A. Cingolani et al.   NATURE REVIEWS NEUROSCIENCE

Modeling Spinal Muscular Atrophy in Drosophila

(2008) Howard Chia-Hao Chang et al.   PLoS One

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

(2008) G. E. Oprea et al.   SCIENCE

The SMN binding protein gemin2 is not involved in motor axon outgrowth

(2007) Michelle L. McWhorter et al.   Developmental Neurobiology