Transcriptome Profiling of Spinal Muscular Atrophy Motor Neurons Derived from Mouse Embryonic Stem Cells

Causal analysis approaches in Ingenuity Pathway Analysis

(2013) Andreas Krämer et al.   BIOINFORMATICS

The DcpS inhibitor RG3039 improves motor function in SMA mice

(2013) James P. Van Meerbeke et al.   HUMAN MOLECULAR GENETICS

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

Notch Signaling Pathway Is Activated in Motoneurons of Spinal Muscular Atrophy

(2013) Víctor Caraballo-Miralles et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Microarray and Pathway Analysis Reveal Distinct Mechanisms Underlying Cannabinoid-Mediated Modulation of LPS-Induced Activation of BV-2 Microglial Cells

(2013) Ana Juknat et al.   PLoS One

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

Developmental arrest of Drosophila survival motor neuron (Smn) mutants accounts for differences in expression of minor intron-containing genes

(2013) E. L. Garcia et al.   RNA

Motor Neuron Rescue in Spinal Muscular Atrophy Mice Demonstrates That Sensory-Motor Defects Are a Consequence, Not a Cause, of Motor Neuron Dysfunction

(2012) R. G. Gogliotti et al.   JOURNAL OF NEUROSCIENCE

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

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

Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks

(2012) Cole Trapnell et al.   Nature Protocols

NCBI GEO: archive for functional genomics data sets—update

(2012) Tanya Barrett et al.   NUCLEIC ACIDS RESEARCH

Inhibition of Apoptosis Blocks Human Motor Neuron Cell Death in a Stem Cell Model of Spinal Muscular Atrophy

(2012) Dhruv Sareen et al.   PLoS One

Genetic Correction of Human Induced Pluripotent Stem Cells from Patients with Spinal Muscular Atrophy

(2012) S. Corti et al.   Science Translational Medicine

Krüppel-like factor 2 regulated gene expression in mouse embryonic yolk sac erythroid cells

(2011) Latasha C. Redmond et al.   BLOOD CELLS MOLECULES AND DISEASES

Proteomic assessment of a cell model of spinal muscular atrophy

(2011) Chia-Yen Wu et al.   BMC NEUROSCIENCE

Design and validation issues in RNA-seq experiments

(2011) Z. Fang et al.   BRIEFINGS IN BIOINFORMATICS

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

(2011) Elaine A Sugarman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Spinal Muscular Atrophy Carrier Frequency and Estimated Prevalence of the Disease in Moroccan Newborns

(2011) Jaber Lyahyai et al.   Genetic Testing and Molecular Biomarkers

Large-scale population screening for spinal muscular atrophy: Clinical implications

(2011) Shay Ben-Shachar et al.   GENETICS IN MEDICINE

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

(2011) Yimin Hua et al.   NATURE

A screen for regulators of survival of motor neuron protein levels

(2011) Nina R Makhortova et al.   Nature Chemical Biology

Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort Study

(2011) Yi-Ning Su et al.   PLoS One

Axonal Regeneration and Neuronal Function Are Preserved in Motor Neurons Lacking ß-Actin In Vivo

(2011) Thomas R. Cheever et al.   PLoS One

Brief Report: Phenotypic Rescue of Induced Pluripotent Stem Cell-Derived Motoneurons of a Spinal Muscular Atrophy Patient

(2011) Tammy Chang et al.   STEM CELLS

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

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

Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice

(2010) Elisa Dominguez et al.   HUMAN MOLECULAR GENETICS

MYBL2, a link between proliferation and differentiation in maturing colon epithelial cells

(2010) Michael Papetti et al.   JOURNAL OF CELLULAR PHYSIOLOGY

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

Reduced Survival of Motor Neuron (SMN) Protein in Motor Neuronal Progenitors Functions Cell Autonomously to Cause Spinal Muscular Atrophy in Model Mice Expressing the Human Centromeric (SMN2) Gene

(2010) G.-H. Park et al.   JOURNAL OF NEUROSCIENCE

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

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

(2010) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy

(2010) Magali Michaud et al.   NEUROBIOLOGY OF DISEASE

Systemic Delivery of scAAV9 Expressing SMN Prolongs Survival in a Model of Spinal Muscular Atrophy

(2010) C. F. Valori et al.   Science Translational Medicine

TopHat: discovering splice junctions with RNA-Seq

(2009) Cole Trapnell et al.   BIOINFORMATICS

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

Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy

(2009) Lyndsay M. Murray 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

Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy

(2009) Hong Liu et al.   JOURNAL OF NEUROSCIENCE RESEARCH

An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy

(2009) Bakri Elsheikh et al.   MUSCLE & NERVE

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

Rex1/Zfp42 is dispensable for pluripotency in mouse ES cells

(2008) Shinji Masui et al.   BMC DEVELOPMENTAL BIOLOGY

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

(2008) Zhenxi Zhang et al.   CELL

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

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

Induced pluripotent stem cells from a spinal muscular atrophy patient

(2008) Allison D. Ebert et al.   NATURE

Analyzing real-time PCR data by the comparative CT method

(2008) Thomas D Schmittgen et al.   Nature Protocols

RNA-Seq: a revolutionary tool for transcriptomics

(2008) Zhong Wang et al.   NATURE REVIEWS GENETICS

Modeling Spinal Muscular Atrophy in Drosophila

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

A Global View of Gene Activity and Alternative Splicing by Deep Sequencing of the Human Transcriptome

(2008) M. Sultan et al.   SCIENCE