SMN regulation in SMA and in response to stress: new paradigms and therapeutic possibilities

FUS inclusions disrupt RNA localization by sequestering kinesin-1 and inhibiting microtubule detyrosination

(2017) Kyota Yasuda et al.   JOURNAL OF CELL BIOLOGY

Gender-Specific Amelioration of SMA Phenotype upon Disruption of a Deep Intronic Structure by an Oligonucleotide

(2017) Matthew D. Howell et al.   MOLECULAR THERAPY

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

Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy

(2017) Penelope J. Boyd et al.   PLoS Genetics

Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy

(2016) Eilidh Somers et al.   ANNALS OF NEUROLOGY

Spinal Muscular Atrophy: More than a Disease of Motor Neurons?

(2016) L. A. Nash et al.   CURRENT MOLECULAR MEDICINE

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

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

(2016) Stefan Reber et al.   EMBO JOURNAL

Enhancing survival motor neuron expression extends lifespan and attenuates neurodegeneration in mutant TDP-43 mice

(2016) Nirma D. Perera et al.   HUMAN MOLECULAR GENETICS

Motor neuron mitochondrial dysfunction in spinal muscular atrophy

(2016) Nimrod Miller et al.   HUMAN MOLECULAR GENETICS

Mechanistic insights into mammalian stress granule dynamics

(2016) Marc D. Panas et al.   JOURNAL OF CELL BIOLOGY

Physiological functions and pathobiology of TDP-43 and FUS/TLS proteins

(2016) Antonia Ratti et al.   JOURNAL OF NEUROCHEMISTRY

Deficiency of the Survival of Motor Neuron Protein Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons

(2016) Claudia Fallini et al.   JOURNAL OF NEUROSCIENCE

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

In vivo aspects of protein folding and quality control

(2016) D. Balchin et al.   SCIENCE

Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy Gene

(2016) Joonbae Seo et al.   PLoS One

Splicing regulation in spinal muscular atrophy by an RNA structure formed by long-distance interactions

(2015) Natalia N. Singh et al.   Annals of the New York Academy of Sciences

Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy

(2015) Chong-Chong Xu et al.   Disease Models & Mechanisms

Reconstitution of the human U snRNP assembly machinery reveals stepwise Sm protein organization

(2015) N. Neuenkirchen et al.   EMBO JOURNAL

Hypothermia improves disease manifestations in SMA mice via SMN augmentation

(2015) Li-Kai Tsai et al.   HUMAN MOLECULAR GENETICS

The SMN structure reveals its crucial role in snRNP assembly

(2015) C. O. Seng et al.   HUMAN MOLECULAR GENETICS

SMN deficiency does not induce oxidative stress in SMA iPSC-derived astrocytes or motor neurons

(2015) Teresa N. Patitucci et al.   HUMAN MOLECULAR GENETICS

Intracellular Bacterial Pathogens Trigger the Formation of U Small Nuclear RNA Bodies (U Bodies) through Metabolic Stress Induction

(2015) Jessica Tsalikis et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Early disruption of neurovascular units and microcirculatory dysfunction in the spinal cord in spinal muscular atrophy type I

(2015) Tatsuro Nobutoki et al.   MEDICAL HYPOTHESES

Oxidative Stress in Neurodegenerative Diseases

(2015) Ewa Niedzielska et al.   MOLECULAR NEUROBIOLOGY

RNA mis-splicing in disease

(2015) Marina M. Scotti et al.   NATURE REVIEWS GENETICS

ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP

(2015) Shuying Sun et al.   Nature Communications

Transcriptional profiling of differentially vulnerable motor neurons at pre-symptomatic stage in the Smn 2b/- mouse model of spinal muscular atrophy

(2015) Lyndsay M. Murray et al.   Acta Neuropathologica Communications

The Role of Oxidative Stress in Neurodegenerative Diseases

(2015) Geon Ha Kim et al.   Experimental Neurobiology

The intriguing case of motor neuron disease: ALS and SMA come closer

(2015) Tilmann Achsel et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

hnRNP M facilitates exon 7 inclusion of SMN2 pre-mRNA in spinal muscular atrophy by targeting an enhancer on exon 7

(2014) Sunghee Cho et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Motoneuron development influences dorsal root ganglia survival and Schwann cell development in a vertebrate model of spinal muscular atrophy

(2014) Le Thi Hao et al.   HUMAN MOLECULAR GENETICS

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

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

ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects

(2014) Haiyan Qiu et al.   JOURNAL OF CLINICAL INVESTIGATION

Comparative analysis of the transcriptome across distant species

(2014) Mark B. Gerstein et al.   NATURE

Selenoproteins: Molecular Pathways and Physiological Roles

(2014) Vyacheslav M. Labunskyy et al.   PHYSIOLOGICAL REVIEWS

Dynamics of survival of motor neuron (SMN) protein interaction with the mRNA-binding protein IMP1 facilitates its trafficking into motor neuron axons

(2013) Claudia Fallini et al.   Developmental Neurobiology

Temporal requirement for SMN in motoneuron development

(2013) Le T. Hao 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

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

(2013) Catherine L. Bladen et al.   JOURNAL OF NEUROLOGY

Selective Vulnerability of Spinal and Cortical Motor Neuron Subpopulations in delta7 SMA Mice

(2013) Paolo d’Errico et al.   PLoS One

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

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

SMN Is Required for Sensory-Motor Circuit Function in Drosophila

(2012) Wendy L. Imlach et al.   CELL

Recapitulation of spinal motor neuron-specific disease phenotypes in a human cell model of spinal muscular atrophy

(2012) Zhi-Bo Wang et al.   CELL RESEARCH

TSUNAMI: an antisense method to phenocopy splicing-associated diseases in animals

(2012) K. Sahashi et al.   GENES & DEVELOPMENT

A novel function for the survival motoneuron protein as a translational regulator

(2012) Gabriel Sanchez et al.   HUMAN MOLECULAR GENETICS

Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model

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

Endogenous TDP-43 localized to stress granules can subsequently form protein aggregates

(2012) Sarah J. Parker et al.   NEUROCHEMISTRY INTERNATIONAL

Electrophysiological and motor function scale association in a pre-symptomatic infant with spinal muscular atrophy type I

(2012) Richard S. Finkel   NEUROMUSCULAR DISORDERS

A Drosophila Model of Spinal Muscular Atrophy Uncouples snRNP Biogenesis Functions of Survival Motor Neuron from Locomotion and Viability Defects

(2012) Kavita Praveen et al.   Cell Reports

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA

(2012) Tomohiro Yamazaki et al.   Cell Reports

The significant other: splicing by the minor spliceosome

(2012) Janne J. Turunen et al.   Wiley Interdisciplinary Reviews-RNA

SMN Deficiency Reduces Cellular Ability to Form Stress Granules, Sensitizing Cells to Stress

(2011) Tie Zou et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Regulation of alternative splicing by the core spliceosomal machinery

(2011) A. L. Saltzman et al.   GENES & DEVELOPMENT

Temporal requirement for high SMN expression in SMA mice

(2011) T. T. Le et al.   HUMAN MOLECULAR GENETICS

Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy

(2011) Cathleen M. Lutz et al.   JOURNAL OF CLINICAL INVESTIGATION

The Survival of Motor Neuron (SMN) Protein Interacts with the mRNA-Binding Protein HuD and Regulates Localization of Poly(A) mRNA in Primary Motor Neuron Axons

(2011) C. Fallini et al.   JOURNAL OF NEUROSCIENCE

Molecular basis of purine-rich RNA recognition by the human SR-like protein Tra2-β1

(2011) Antoine Cléry et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Density, calibre and ramification of muscle capillaries are altered in a mouse model of severe spinal muscular atrophy

(2011) E. Somers et al.   NEUROMUSCULAR DISORDERS

Selective Neuronal Vulnerability in Neurodegenerative Diseases: from Stressor Thresholds to Degeneration

(2011) Smita Saxena et al.   NEURON

Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits

(2011) B. Akten et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Differential effects of PKA-controlled CaMKK2 variants on neuronal differentiation

(2011) Wenguang Cao et al.   RNA Biology

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

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

Sm proteins specify germ cell fate by facilitating oskar mRNA localization

(2010) G. B. Gonsalvez et al.   DEVELOPMENT

The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy

(2010) Simona Pedrotti et al.   EMBO JOURNAL

SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy

(2010) Markus Riessland et al.   HUMAN MOLECULAR GENETICS

HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects

(2010) Lisa Hubers et al.   HUMAN MOLECULAR GENETICS

Expansion of the eukaryotic proteome by alternative splicing

(2010) Timothy W. Nilsen et al.   NATURE

Tar DNA Binding Protein-43 (TDP-43) Associates with Stress Granules: Analysis of Cultured Cells and Pathological Brain Tissue

(2010) Liqun Liu-Yesucevitz et al.   PLoS One

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

(2009) Thomas W. Prior et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Selenium and Selenoproteins in Health and Disease

(2009) Laura V. Papp et al.   ANTIOXIDANTS & REDOX SIGNALING

Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects

(2009) Kum-Loong Boon et al.   HUMAN MOLECULAR GENETICS

p38 Mitogen-activated protein kinase stabilizes SMN mRNA through RNA binding protein HuR

(2009) Faraz Farooq 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

A rareSMN2variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

(2009) Myriam Vezain et al.   HUMAN MUTATION

Role of Survival Motor Neuron Complex Components in Small Nuclear Ribonucleoprotein Assembly

(2009) Chihiro Ogawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mitochondrial dysfunction in a neural cell model of spinal muscular atrophy

(2009) Gyula Acsadi 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 deficiency enhances progression in an amyotrophic lateral sclerosis mouse model

(2009) Bradley J. Turner et al.   NEUROBIOLOGY OF DISEASE

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic Mice

(2008) Yimin Hua et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2008) Zhenxi Zhang et al.   CELL

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

(2008) Laura Alías et al.   HUMAN GENETICS

Heterogeneous Nuclear Ribonucleoprotein A1 Regulates Cyclin D1 and c-mycInternal Ribosome Entry Site Function through Akt Signaling

(2008) Oak D. Jo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Regulation of SMN Protein Stability

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

The RNA Binding Protein hnRNP Q Modulates the Utilization of Exon 7 in the Survival Motor Neuron 2 (SMN2) Gene

(2008) H.-H. Chen et al.   MOLECULAR AND CELLULAR BIOLOGY

Inactivation of the SMN Complex by Oxidative Stress

(2008) Lili Wan et al.   MOLECULAR CELL

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

(2008) Qun Pan et al.   NATURE GENETICS

Survival in SMA type I: A prospective analysis of 34 consecutive cases

(2008) J.M. Cobben et al.   NEUROMUSCULAR DISORDERS

Modeling Spinal Muscular Atrophy in Drosophila

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