Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model

Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo

(2009) Christopher R. Heier 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

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

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

Sustained improvement of spinal muscular atrophy mice treated with trichostatin a plus nutrition

(2008) Heather L. Narver et al.   ANNALS OF NEUROLOGY

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

(2008) Zhenxi Zhang et al.   CELL

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

(2008) Alexa Dickson et al.   HUMAN GENE THERAPY

Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy

(2008) Ferrill F. Rose 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

SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain

(2008) Michael P. Walker et al.   HUMAN MOLECULAR GENETICS

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

(2008) Eitan Kerem et al.   LANCET

Regulation of SMN Protein Stability

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

Induced pluripotent stem cells from a spinal muscular atrophy patient

(2008) Allison D. Ebert et al.   NATURE

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

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

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

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

PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model

(2008) M. Du et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Introducing sense into nonsense in treatments of human genetic diseases

(2008) Liat Linde et al.   TRENDS IN GENETICS