Minor snRNA gene delivery improves the loss of proprioceptive synapses on SMA motor neurons

Molecular Mechanisms Underlying Sensory-Motor Circuit Dysfunction in SMA

(2019) Hannah K. Shorrock et al.   Frontiers in Molecular Neuroscience

CRISPR screening using an expanded toolkit of autophagy reporters identifies TMEM41B as a novel autophagy factor

(2019) Christopher J. Shoemaker et al.   PLOS BIOLOGY

Stasimon Contributes to the Loss of Sensory Synapses and Motor Neuron Death in a Mouse Model of Spinal Muscular Atrophy

(2019) Christian M. Simon et al.   Cell Reports

Dysregulation of Mdm2 and Mdm4 alternative splicing underlies motor neuron death in spinal muscular atrophy

(2018) Meaghan Van Alstyne et al.   GENES & DEVELOPMENT

Glial Activation and Central Synapse Loss, but Not Motoneuron Degeneration, Are Prevented by the Sigma-1 Receptor Agonist PRE-084 in the Smn2B/− Mouse Model of Spinal Muscular Atrophy

(2018) Clàudia Cerveró et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Minor spliceosome and disease

(2018) Bhupendra Verma et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Minor spliceosome inactivation causes microcephaly, owing to cell cycle defects and death of self-amplifying radial glial cells

(2018) Marybeth Baumgartner et al.   DEVELOPMENT

TMEM41B is a novel regulator of autophagy and lipid mobilization

(2018) Francesca Moretti et al.   EMBO REPORTS

Genome-wide CRISPR screen identifiesTMEM41Bas a gene required for autophagosome formation

(2018) Keigo Morita et al.   JOURNAL OF CELL BIOLOGY

Stasimon/Tmem41b localizes to mitochondria-associated ER membranes and is essential for mouse embryonic development

(2018) Meaghan Van Alstyne et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

VGLUT1 synapses and P-boutons on regenerating motoneurons after nerve crush

(2017) Adam J. Schultz et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Reduced sensory synaptic excitation impairs motor neuron function via Kv2.1 in spinal muscular atrophy

(2017) Emily V Fletcher et al.   NATURE NEUROSCIENCE

Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR

(2017) Deborah L. Stabley et al.   NEUROMUSCULAR DISORDERS

SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage

(2017) Mohini Jangi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Converging Mechanisms of p53 Activation Drive Motor Neuron Degeneration in Spinal Muscular Atrophy

(2017) Christian M. Simon et al.   Cell Reports

Comparison of independent screens on differentially vulnerable motor neurons reveals alpha-synuclein as a common modifier in motor neuron diseases

(2017) Rachel A. Kline et al.   PLoS Genetics

A role for the survival of motor neuron protein in mRNP assembly and transport

(2016) Paul G Donlin-Asp et al.   CURRENT OPINION IN NEUROBIOLOGY

Advances in modeling and treating spinal muscular atrophy

(2016) Meaghan Van Alstyne et al.   CURRENT OPINION IN NEUROLOGY

Minor intron splicing is regulated by FUS and affected by ALS‐associated FUS mutants

(2016) Stefan Reber et al.   EMBO JOURNAL

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

(2016) Xin Zhao et al.   HUMAN MOLECULAR GENETICS

Sensory-Derived Glutamate Regulates Presynaptic Inhibitory Terminals in Mouse Spinal Cord

(2016) Michael Mende et al.   NEURON

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

(2016) Thomas Koed Doktor et al.   NUCLEIC ACIDS RESEARCH

Disease Mechanisms and Therapeutic Approaches in Spinal Muscular Atrophy

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

Improving Single Injection CSF Delivery of AAV9-mediated Gene Therapy for SMA: A Dose–response Study in Mice and Nonhuman Primates

(2015) Kathrin Meyer et al.   MOLECULAR THERAPY

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

(2015) Daniele Merico et al.   Nature Communications

Defining the therapeutic window in a severe animal model of spinal muscular atrophy

(2014) K. L. Robbins et al.   HUMAN MOLECULAR GENETICS

Normal Distribution of VGLUT1 Synapses on Spinal Motoneuron Dendrites and Their Reorganization after Nerve Injury

(2014) T. M. Rotterman et al.   JOURNAL OF NEUROSCIENCE

Minor class splicing shapes the zebrafish transcriptome during development

(2014) S. Markmiller et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Decreased number of Gemini of coiled bodies and U12 snRNA level in amyotrophic lateral sclerosis

(2013) Tomohiko Ishihara 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

Minor splicing pathway is not minor any more: Implications for the pathogenesis of motor neuron diseases

(2013) Osamu Onodera et al.   NEUROPATHOLOGY

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

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

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

(2012) Francesco Lotti et al.   CELL

Spliceosome integrity is defective in the motor neuron diseases ALS and SMA

(2012) Hitomi Tsuiji et al.   EMBO Molecular Medicine

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

(2012) Bastian Ackermann et al.   HUMAN MOLECULAR GENETICS

Preservation of VGLUT1 synapses on ventral calbindin-immunoreactive interneurons and normal locomotor function in a mouse model of spinal muscular atrophy

(2012) Vatsala Thirumalai et al.   JOURNAL OF NEUROPHYSIOLOGY

Spinal muscular atrophy: going beyond the motor neuron

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

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

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

Bifunctional RNAs Targeting the Intronic Splicing Silencer N1 Increase SMN Levels and Reduce Disease Severity in an Animal Model of Spinal Muscular Atrophy

(2011) Erkan Y Osman et al.   MOLECULAR THERAPY

A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology

(2011) Mélissa Bowerman et al.   NEUROMUSCULAR DISORDERS

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

(2011) George Z. Mentis et al.   NEURON

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

(2011) P. Edery et al.   SCIENCE

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

(2011) H. He et al.   SCIENCE

Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy

(2011) M. A. Passini et al.   Science Translational Medicine

SMN in spinal muscular atrophy and snRNP biogenesis

(2011) Tristan H. Coady et al.   Wiley Interdisciplinary Reviews-RNA

Mechanisms regulating the specificity and strength of muscle afferent inputs in the spinal cord

(2010) George Z. Mentis et al.   Annals of the New York Academy of Sciences

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

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

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

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

(2009) Eileen Workman et al.   HUMAN MOLECULAR GENETICS

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

Deciphering the assembly pathway of Sm-class U snRNPs

(2008) Nils Neuenkirchen et al.   FEBS LETTERS

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

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