Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: Evidence for involvement of splicing regulatory proteins

Small nuclear RNAs and mRNAs: linking RNA processing and transport to spinal muscular atrophy

(2013) Judith Sleeman   BIOCHEMICAL SOCIETY TRANSACTIONS

The lymphoid lineage–specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells

(2013) Yinming Liang et al.   NATURE IMMUNOLOGY

The craniosacral progression of muscle development influences the emergence of neuromuscular junction alterations in a severe murine model for spinal muscular atrophy

(2013) Tilman Voigt et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

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

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

(2012) Francesco Lotti et al.   CELL

SMN Is Required for Sensory-Motor Circuit Function in Drosophila

(2012) Wendy L. Imlach et al.   CELL

PPP4R2 regulates neuronal cell differentiation and survival, functionally cooperating with SMN

(2012) Ylenia Bosio et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

Neonatal vocal cord paralysis-an early presentation of hereditary neuralgic amyotrophy due to a mutation in the SEPT9 gene

(2012) E. Leshinsky-Silver et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

(2012) Saif Ahmad et al.   HUMAN MOLECULAR GENETICS

Changes in intranuclear mobility of mature snRNPs provide a mechanism for splicing defects in spinal muscular atrophy

(2012) A. K. Clelland et al.   JOURNAL OF CELL SCIENCE

Synaptic defects in type I spinal muscular atrophy in human development

(2012) Rebeca Martínez-Hernández et al.   JOURNAL OF PATHOLOGY

Co-regulation of survival of motor neuron and Bcl-xL expression: Implications for neuroprotection in spinal muscular atrophy

(2012) R.S. Anderton et al.   NEUROSCIENCE

Implication of the SMN complex in the biogenesis and steady state level of the Signal Recognition Particle

(2012) N. Piazzon 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

The Spinal Muscular Atrophy Disease Protein SMN Is Linked to the Golgi Network

(2012) Chen-Hung Ting et al.   PLoS One

Exon and intron definition in pre-mRNA splicing

(2012) Laura De Conti et al.   Wiley Interdisciplinary Reviews-RNA

Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons

(2011) Young il Lee et al.   DEVELOPMENTAL BIOLOGY

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

The COPI vesicle complex binds and moves with survival motor neuron within axons

(2011) Cyril Jayakumar Peter et al.   HUMAN MOLECULAR GENETICS

Defective Neuromuscular Junction Organization and Postnatal Myogenesis in Mice With Severe Spinal Muscular Atrophy

(2011) Elisabet Dachs et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model

(2011) Natalia N. Singh et al.   RNA Biology

Survival Motor Neuron Protein Regulates Stem Cell Division, Proliferation, and Differentiation in Drosophila

(2011) Stuart J. Grice et al.   PLoS Genetics

Biogenesis of spliceosomal small nuclear ribonucleoproteins

(2011) Utz Fischer et al.   Wiley Interdisciplinary Reviews-RNA

Polycomb complexes act redundantly to repress genomic repeats and genes

(2010) M. Leeb et al.   GENES & DEVELOPMENT

Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type I SMA patient

(2010) Nawal Boulisfane et al.   HUMAN MOLECULAR GENETICS

TIA1 Prevents Skipping of a Critical Exon Associated with Spinal Muscular Atrophy

(2010) N. N. Singh et al.   MOLECULAR AND CELLULAR BIOLOGY

Structural characterization of a capping protein interaction motif defines a family of actin filament regulators

(2010) Maria Hernandez-Valladares et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

iCLIP reveals the function of hnRNP particles in splicing at individual nucleotide resolution

(2010) Julian König et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Ultrastructural changes in diaphragm neuromuscular junctions in a severe mouse model for Spinal Muscular Atrophy and their prevention by bifunctional U7 snRNA correcting SMN2 splicing

(2010) Tilman Voigt et al.   NEUROMUSCULAR DISORDERS

The 68 kDa subunit of mammalian cleavage factor I interacts with the U7 small nuclear ribonucleoprotein and participates in 3′-end processing of animal histone mRNAs

(2010) Marc-David Ruepp et al.   NUCLEIC ACIDS RESEARCH

The MIQE Guidelines: Minimum Information for Publication of Quantitative Real-Time PCR Experiments

(2009) S. A. Bustin et al.   CLINICAL CHEMISTRY

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

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

(2009) Eileen Workman et al.   HUMAN MOLECULAR GENETICS

Direct Observation of the Uncapping of Capping Protein-capped Actin Filaments by CARMIL Homology Domain 3

(2009) Ikuko Fujiwara et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

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

Survival motor Neuron protein regulates apoptosis in anin vitro model of Spinal muscular atrophy

(2009) Graham C. Parker et al.   NEUROTOXICITY RESEARCH

Application of housekeeping npcRNAs for quantitative expression analysis of human transcriptome by real-time PCR

(2009) C. R. Galiveti et al.   RNA

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

(2009) Dirk Bäumer et al.   PLoS Genetics

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

(2008) Zhenxi Zhang et al.   CELL

Doxycycline-controlled splicing modulation by regulated antisense U7 snRNA expression cassettes

(2008) J Marquis et al.   GENE THERAPY

Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation

(2008) Kathrin Meyer 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

Spinal muscular atrophy

(2008) Mitchell R Lunn et al.   LANCET