Spinal Muscular Atrophy: In the Challenge Lies a Solution

Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next

(2020) Brunhilde Wirth et al.   Annual Review of Genomics and Human Genetics

Muscle-specific SMN reduction reveals motor neuron–independent disease in spinal muscular atrophy models

(2020) Jeong-Ki Kim et al.   JOURNAL OF CLINICAL INVESTIGATION

Overturning the Paradigm of Spinal Muscular Atrophy as just a Motor Neuron Disease

(2020) Crystal Jing Jing Yeo et al.   PEDIATRIC NEUROLOGY

The Need for SMN-Independent Treatments of Spinal Muscular Atrophy (SMA) to Complement SMN-Enhancing Drugs

(2020) Niko Hensel et al.   Frontiers in Neurology

Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy

(2020) Anna A L Motyl et al.   HUMAN MOLECULAR GENETICS

Renal pathology in a mouse model of severe Spinal Muscular Atrophy is associated with downregulation of Glial Cell-Line Derived Neurotrophic Factor (GDNF)

(2020) Hazel Allardyce et al.   HUMAN MOLECULAR GENETICS

CRISPR artificial splicing factors

(2020) Menghan Du et al.   Nature Communications

New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges

(2020) Sonia Messina et al.   Journal of Clinical Medicine

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

(2020) Erkan Y. Osman et al.   JCI Insight

AAV9-DOK7 gene therapy reduces disease severity in Smn SMA model mice

(2020) Kevin A. Kaifer et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy

(2020) Melissa B. Walsh et al.   BMC BIOLOGY

SMN-primed ribosomes modulate the translation of transcripts related to spinal muscular atrophy

(2020) Fabio Lauria et al.   NATURE CELL BIOLOGY

Survival motor neuron protein regulates oxidative stress and inflammatory response in microglia of the spinal cord in spinal muscular atrophy

(2020) Shiori Ando et al.   JOURNAL OF PHARMACOLOGICAL SCIENCES

Late Endosomes Act as mRNA Translation Platforms and Sustain Mitochondria in Axons

(2019) Jean-Michel Cioni et al.   CELL

Molecular Mechanisms Underlying Sensory-Motor Circuit Dysfunction in SMA

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

Neurocalcin Delta Knockout Impairs Adult Neurogenesis Whereas Half Reduction Is Not Pathological

(2019) Aaradhita Upadhyay et al.   Frontiers in Molecular Neuroscience

Human Survival Motor Neuron genes generate a vast repertoire of circular RNAs

(2019) Eric W Ottesen et al.   NUCLEIC ACIDS RESEARCH

Neurofilament as a potential biomarker for spinal muscular atrophy

(2019) Basil T. Darras et al.   Annals of Clinical and Translational Neurology

NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen further Ameliorates Spinal Muscular Atrophy in Mice

(2019) Laura Torres-Benito et al.   AMERICAN JOURNAL OF HUMAN GENETICS

AAV9-mediated delivery of miR-23a reduces disease severity in Smn2B/−SMA model mice

(2019) Kevin A Kaifer et al.   HUMAN MOLECULAR GENETICS

Discrepancy in redetermination of SMN2 copy numbers in children with SMA

(2019) David Christof Schorling et al.   NEUROLOGY

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

(2019) Darryl C. De Vivo et al.   NEUROMUSCULAR DISORDERS

Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy

(2019) Wiebke A. Rehorst et al.   Acta Neuropathologica Communications

ZPR1 prevents R-loop accumulation, upregulates SMN2 expression and rescues spinal muscular atrophy

(2019) Annapoorna Kannan et al.   BRAIN

Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy

(2019) Christiano R.R. Alves et al.   NEUROLOGY

The Classical Complement Pathway Mediates Microglia-Dependent Remodeling of Spinal Motor Circuits during Development and in SMA

(2019) Aleksandra Vukojicic et al.   Cell Reports

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

CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis

(2018) Eva Janzen et al.   BRAIN

The role of survival motor neuron protein (SMN) in protein homeostasis

(2018) Helena Chaytow et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

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

Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy

(2018) Ewout J N Groen et al.   HUMAN MOLECULAR GENETICS

Blocking p62-dependent SMN degradation ameliorates spinal muscular atrophy disease phenotypes

(2018) Natalia Rodriguez-Muela et al.   JOURNAL OF CLINICAL INVESTIGATION

Advances in therapy for spinal muscular atrophy: promises and challenges

(2018) Ewout J. N. Groen et al.   Nature Reviews Neurology

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

(2018) Richard S. Finkel et al.   NEUROMUSCULAR DISORDERS

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

(2018) Maite Calucho et al.   NEUROMUSCULAR DISORDERS

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

(2018) Eugenio Mercuri et al.   NEUROMUSCULAR DISORDERS

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

(2018) Eugenio Mercuri et al.   NEW ENGLAND JOURNAL OF MEDICINE

Combined deficiency of Senataxin and DNA-PKcs causes DNA damage accumulation and neurodegeneration in spinal muscular atrophy

(2018) Annapoorna Kannan et al.   NUCLEIC ACIDS RESEARCH

Orientation-dependent Dxz4 contacts shape the 3D structure of the inactive X chromosome

(2018) G. Bonora et al.   Nature Communications

Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy

(2018) Inês do Carmo G. Gonçalves et al.   Scientific Reports

Interventions Targeting Glucocorticoid-Krüppel-like Factor 15-Branched-Chain Amino Acid Signaling Improve Disease Phenotypes in Spinal Muscular Atrophy Mice

(2018) Lisa M. Walter et al.   EBioMedicine

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy

(2018) Hannah K Shorrock et al.   BRAIN

Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 (SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA)

(2018) Hasane Ratni et al.   JOURNAL OF MEDICINAL CHEMISTRY

Pharmacological c-Jun NH2-Terminal Kinase (JNK) Pathway Inhibition Reduces Severity of Spinal Muscular Atrophy Disease in Mice

(2018) Roberta Schellino et al.   Frontiers in Molecular Neuroscience

Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol

(2018) Francesco Danilo Tiziano et al.   JOURNAL OF MEDICAL GENETICS

Advances in understanding the role of disease-associated proteins in spinal muscular atrophy

(2017) Seyyedmohsen Hosseinibarkooie et al.   Expert Review of Proteomics

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

(2017) Catherine E. Dominguez et al.   HUMAN GENETICS

Metalloprotease-mediated cleavage of PlexinD1 and its sequestration to actin rods in the motoneuron disease spinal muscular atrophy (SMA)

(2017) Sebastian Rademacher et al.   HUMAN MOLECULAR GENETICS

Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice

(2017) Jeong-Ki Kim et al.   HUMAN MOLECULAR GENETICS

A multi-source approach to determine SMA incidence and research ready population

(2017) Ingrid E. C. Verhaart et al.   JOURNAL OF NEUROLOGY

Regulation of Survival Motor Neuron Protein by the Nuclear Factor-Kappa B Pathway in Mouse Spinal Cord Motoneurons

(2017) Saravanan Arumugam et al.   MOLECULAR NEUROBIOLOGY

The Actin Cytoskeleton in SMA and ALS: How Does It Contribute to Motoneuron Degeneration?

(2017) Niko Hensel et al.   NEUROSCIENTIST

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

The evolution and population diversity of human-specific segmental duplications

(2017) Megan Y. Dennis et al.   Nature Ecology & Evolution

The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype

(2016) Seyyedmohsen Hosseinibarkooie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study

(2016) Stephen J. Kolb et al.   Annals of Clinical and Translational Neurology

Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals

(2015) Ludwig Heesen et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Disease Mechanisms and Therapeutic Approaches in Spinal Muscular Atrophy

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

PTEN Depletion Decreases Disease Severity and Modestly Prolongs Survival in a Mouse Model of Spinal Muscular Atrophy

(2015) Daniel Little et al.   MOLECULAR THERAPY

Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse

(2015) Vicki L. McGovern et al.   PLoS One

SMN regulates axonal local translation via miR-183/mTOR pathway

(2014) Min Jeong Kye et al.   HUMAN MOLECULAR GENETICS

Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy

(2014) Thomas M. Wishart et al.   JOURNAL OF CLINICAL INVESTIGATION

Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation

(2014) Shingo Kariya et al.   JOURNAL OF CLINICAL INVESTIGATION

Autophagy dysregulation in cell culture and animals models of spinal muscular atrophy

(2014) Sara K. Custer et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches

(2013) Brunhilde Wirth et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

PLS3 Mutations in X-Linked Osteoporosis with Fractures

(2013) Fleur S. van Dijk et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Mouse models of SMA: tools for disease characterization and therapeutic development

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

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

(2012) Bastian Ackermann et al.   HUMAN MOLECULAR GENETICS

Spinal muscular atrophy: going beyond the motor neuron

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

Systemic Gene Delivery in Large Species for Targeting Spinal Cord, Brain, and Peripheral Tissues for Pediatric Disorders

(2011) Adam K Bevan et al.   MOLECULAR THERAPY

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

(2011) Yimin Hua et al.   NATURE

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings

(2011) Sara Bernal 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

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

(2010) Markus Riessland et al.   HUMAN MOLECULAR GENETICS

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

(2010) Elisa Dominguez 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

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

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

(2008) G. E. Oprea et al.   SCIENCE