Pharmacokinetics, pharmacodynamics, and efficacy of a small-moleculeSMN2splicing modifier in mouse models of spinal muscular atrophy

Pharmacologically induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset

(2016) Zhihua Feng et al.   HUMAN MOLECULAR GENETICS

Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models

(2015) Yimin Hua et al.   GENES & DEVELOPMENT

Disease Mechanisms and Therapeutic Approaches in Spinal Muscular Atrophy

(2015) S. Tisdale et al.   JOURNAL OF NEUROSCIENCE

SMN2 splice modulators enhance U1–pre-mRNA association and rescue SMA mice

(2015) James Palacino et al.   Nature Chemical Biology

Morpholino antisense oligonucleotides targeting intronic repressor Element1 improve phenotype in SMA mouse models

(2014) Erkan Y. Osman et al.   HUMAN MOLECULAR GENETICS

SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

(2014) N. A. Naryshkin et al.   SCIENCE

SMN control of RNP assembly: From post-transcriptional gene regulation to motor neuron disease

(2014) Darrick K. Li et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy

(2013) James N. Sleigh et al.   HUMAN MOLECULAR GENETICS

Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?

(2013) Monir Shababi et al.   JOURNAL OF ANATOMY

A Cell System for Phenotypic Screening of Modifiers of SMN2 Gene Expression and Function

(2013) Darrick K. Li et al.   PLoS One

SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3′-End Formation of Histone mRNAs

(2013) Sarah Tisdale et al.   Cell Reports

Glucose metabolism and pancreatic defects in spinal muscular atrophy

(2012) Melissa Bowerman et al.   ANNALS OF NEUROLOGY

Spinal muscular atrophy: The role of SMN in axonal mRNA regulation

(2012) Claudia Fallini et al.   BRAIN RESEARCH

An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function

(2012) Francesco Lotti et al.   CELL

Mouse models of SMA: tools for disease characterization and therapeutic development

(2012) Thomas W. Bebee et al.   HUMAN GENETICS

Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models

(2012) Melissa Osborne et al.   HUMAN MOLECULAR GENETICS

Targeting RNA-splicing for SMA treatment

(2012) Jianhua Zhou et al.   MOLECULES AND CELLS

Spinal muscular atrophy: going beyond the motor neuron

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

Barrier Mechanisms in the Developing Brain

(2012) Norman R. Saunders et al.   Frontiers in Pharmacology

A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse

(2011) Paul N. Porensky et al.   HUMAN MOLECULAR GENETICS

Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy

(2011) K. K. Y. Ling et al.   HUMAN MOLECULAR GENETICS

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

(2011) M. Ruggiu et al.   MOLECULAR AND CELLULAR BIOLOGY

Systemic Gene Delivery in Large Species for Targeting Spinal Cord, Brain, and Peripheral Tissues for Pediatric Disorders

(2011) Adam K Bevan et al.   MOLECULAR THERAPY

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

(2011) Yimin Hua et al.   NATURE

Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy

(2011) George Z. Mentis et al.   NEURON

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

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

(2010) Christopher R. Heier et al.   HUMAN MOLECULAR GENETICS

CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy

(2010) Marco A. Passini et al.   JOURNAL OF CLINICAL INVESTIGATION

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 SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice

(2009) Eileen Workman et al.   HUMAN MOLECULAR GENETICS

Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy

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

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

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

(2008) Zhenxi Zhang et al.   CELL

Three Patterns of Cytochrome P450 Gene Expression during Liver Maturation in Mice

(2008) S. N. Hart et al.   DRUG METABOLISM AND DISPOSITION

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

Regulation of SMN Protein Stability

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