Genetic inhibition of JNK3 ameliorates spinal muscular atrophy

SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice

(2015) Sara E. Gombash et al.   HUMAN MOLECULAR GENETICS

Advances in therapeutic development for spinal muscular atrophy

(2014) Matthew D Howell et al.   Future Medicinal Chemistry

Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy

(2014) Thomas M. Wishart et al.   JOURNAL OF CLINICAL INVESTIGATION

Nuclear and cytosolic JNK signalling in neurons

(2014) Eleanor T. Coffey   NATURE REVIEWS NEUROSCIENCE

Usp18 deficient mammary epithelial cells create an antitumour environment driven by hypersensitivity to IFN-λ and elevated secretion of Cxcl10

(2013) Christoph Burkart et al.   EMBO Molecular Medicine

Histone deacetylase inhibitors as potential treatment for spinal muscular atrophy

(2013) Jafar Mohseni et al.   GENETICS AND MOLECULAR BIOLOGY

The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models

(2013) Rocky G. Gogliotti et al.   HUMAN MOLECULAR GENETICS

SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy

(2013) Kelvin See et al.   HUMAN MOLECULAR GENETICS

Shift from Extracellular Signal-Regulated Kinase to AKT/cAMP Response Element-Binding Protein Pathway Increases Survival-Motor-Neuron Expression in Spinal-Muscular-Atrophy-Like Mice and Patient Cells

(2013) J. Branchu et al.   JOURNAL OF NEUROSCIENCE

Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy

(2013) Z. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Early onset muscle weakness and disruption of muscle proteins in mouse models of spinal muscular atrophy

(2013) Justin G Boyer et al.   Skeletal Muscle

Glucose metabolism and pancreatic defects in spinal muscular atrophy

(2012) Melissa Bowerman et al.   ANNALS OF NEUROLOGY

Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy

(2012) Melissa Bowerman et al.   BMC Medicine

SMN Is Required for Sensory-Motor Circuit Function in Drosophila

(2012) Wendy L. Imlach et al.   CELL

Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585

(2012) Julia Schreml et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy

(2012) Saif Ahmad et al.   HUMAN MOLECULAR GENETICS

Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality

(2012) Bastian Ackermann et al.   HUMAN MOLECULAR GENETICS

Survival Motor Neuron Protein in Motor Neurons Determines Synaptic Integrity in Spinal Muscular Atrophy

(2012) T. L. Martinez et al.   JOURNAL OF NEUROSCIENCE

A Multi-Exon-Skipping Detection Assay Reveals Surprising Diversity of Splice Isoforms of Spinal Muscular Atrophy Genes

(2012) Natalia N. Singh et al.   PLoS One

Spinal muscular atrophy: going beyond the motor neuron

(2012) Gillian Hamilton et al.   TRENDS IN MOLECULAR MEDICINE

A Drosophila Model of Spinal Muscular Atrophy Uncouples snRNP Biogenesis Functions of Survival Motor Neuron from Locomotion and Viability Defects

(2012) Kavita Praveen et al.   Cell Reports

Therapy Development for Spinal Muscular Atrophy in SMN Independent Targets

(2012) Li-Kai Tsai   NEURAL PLASTICITY

Synaptic defects in spinal muscular atrophy animal models

(2011) Laura Torres-Benito et al.   Developmental Neurobiology

The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin

(2011) Anna Nölle et al.   HUMAN MOLECULAR GENETICS

Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway

(2011) Faraz Farooq et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2011) Yimin Hua et al.   NATURE

Spinal muscular atrophy

(2011) Adele D'Amico et al.   Orphanet Journal of Rare Diseases

Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice

(2010) Christopher R. Heier 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

Altered Intracellular Ca2+ Homeostasis in Nerve Terminals of Severe Spinal Muscular Atrophy Mice

(2010) R. Ruiz et al.   JOURNAL OF NEUROSCIENCE

Digital necroses and vascular thrombosis in severe spinal muscular atrophy

(2010) Sabine Rudnik-Schöneborn et al.   MUSCLE & NERVE

Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

(2010) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

Synaptic Defects in the Spinal and Neuromuscular Circuitry in a Mouse Model of Spinal Muscular Atrophy

(2010) Karen K. Y. Ling et al.   PLoS One

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

Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy

(2009) Matthew E.R. Butchbach et al.   HUMAN MOLECULAR GENETICS

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

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

Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy

(2009) Alexandra prufer de Queiroz Campos Araujo et al.   JOURNAL OF PEDIATRICS

Regulation of the Intracellular Localization of Foxo3a by Stress-Activated Protein Kinase Signaling Pathways in Skeletal Muscle Cells

(2009) S. Clavel et al.   MOLECULAR AND CELLULAR BIOLOGY

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

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

(2009) Dirk Bäumer et al.   PLoS Genetics

Identification of a battery of tests for drug candidate evaluation in the SMNΔ7 neonate model of spinal muscular atrophy

(2008) Bassem F. El-Khodor et al.   EXPERIMENTAL NEUROLOGY

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

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

(2008) G. E. Oprea et al.   SCIENCE