Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy

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

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

How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy

(2017) N N Singh et al.   GENE THERAPY

Therapeutic approaches for spinal muscular atrophy (SMA)

(2017) M Scoto et al.   GENE THERAPY

Population Pharmacokinetics of Nusinersen in the Cerebral Spinal Fluid and Plasma of Pediatric Patients With Spinal Muscular Atrophy Following Intrathecal Administrations

(2017) Kenneth T. Luu et al.   JOURNAL OF CLINICAL PHARMACOLOGY

Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0–4

(2017) Renske I Wadman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial

(2017) Enrico Bertini et al.   LANCET NEUROLOGY

Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I

(2017) Kristin J. Krosschell et al.   MUSCLE & NERVE

Safety and efficacy findings in the first-in-human trial (FIH) of the oral splice modulator branaplam in type 1 spinal muscular atrophy (SMA): interim results

(2017) L. Charnas et al.   NEUROMUSCULAR DISORDERS

Efficacy and safety of nusinersen in children with later-onset spinal muscular atrophy (SMA): end of study results from the phase 3 CHERISH study

(2017) E. Mercuri et al.   NEUROMUSCULAR DISORDERS

Outcomes after 1-year in presymptomatic infants with genetically diagnosed spinal muscular atrophy (SMA) treated with nusinersen: interim results from the NURTURE study

(2017) W. Hwu et al.   NEUROMUSCULAR DISORDERS

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

Cardiac pathology in spinal muscular atrophy: a systematic review

(2017) C. A. Wijngaarde et al.   Orphanet Journal of Rare Diseases

Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

(2017) Ingrid E. C. Verhaart et al.   Orphanet Journal of Rare Diseases

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches

(2017) Virginie Mariot et al.   Nature Communications

FDA Approval of Nusinersen for Spinal Muscular Atrophy Makes 2016 the Year of Splice Modulating Oligonucleotides

(2017) Annemieke Aartsma-Rus   Nucleic Acid Therapeutics

The Survival of Motor Neuron Protein Acts as a Molecular Chaperone for mRNP Assembly

(2017) Paul G. Donlin-Asp et al.   Cell Reports

In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology

(2017) Paola Bernabò et al.   Cell Reports

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

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

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

Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy

(2016) Eilidh Somers et al.   ANNALS OF NEUROLOGY

Dynamic Axonal Translation in Developing and Mature Visual Circuits

(2016) Toshiaki Shigeoka et al.   CELL

Motor neuron mitochondrial dysfunction in spinal muscular atrophy

(2016) Nimrod Miller et al.   HUMAN MOLECULAR GENETICS

Survival of motor neurone protein is required for normal postnatal development of the spleen

(2016) Alison K. Thomson et al.   JOURNAL OF ANATOMY

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

Dawn of a new therapeutic era for spinal muscular atrophy

(2016) Thomas H Gillingwater   LANCET

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

(2016) Richard S Finkel et al.   LANCET

Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy

(2016) Claudia A. Chiriboga et al.   NEUROLOGY

Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy

(2016) Suzan M. Hammond et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Survival Motor Neuron (SMN) protein is required for normal mouse liver development

(2016) Eva Szunyogova et al.   Scientific Reports

Repeated low doses of morpholino antisense oligomer: an intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response

(2015) Haiyan Zhou et al.   HUMAN MOLECULAR GENETICS

Disease Mechanisms and Therapeutic Approaches in Spinal Muscular Atrophy

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

A novel role for CARM1 in promoting nonsense-mediated mRNA decay: potential implications for spinal muscular atrophy

(2015) Gabriel Sanchez et al.   NUCLEIC ACIDS RESEARCH

Protective role of olesoxime against wild-type α-synuclein-induced toxicity in human neuronally differentiated SHSY-5Y cells

(2014) C Gouarné et al.   BRITISH JOURNAL OF PHARMACOLOGY

Newborn Blood Spot Screening Test Using Multiplexed Real-Time PCR to Simultaneously Screen for Spinal Muscular Atrophy and Severe Combined Immunodeficiency

(2014) J. L. Taylor et al.   CLINICAL CHEMISTRY

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

SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

(2014) N. A. Naryshkin et al.   SCIENCE

A Novel Morpholino Oligomer Targeting ISS-N1 Improves Rescue of Severe Spinal Muscular Atrophy Transgenic Mice

(2013) Haiyan Zhou et al.   HUMAN GENE THERAPY

SMA valiant trial: A prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy

(2013) John T. Kissel et al.   MUSCLE & NERVE

The Central Dogma Decentralized: New Perspectives on RNA Function and Local Translation in Neurons

(2013) Christine E. Holt et al.   NEURON

Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy

(2012) Melissa Bowerman et al.   BMC Medicine

Olesoxime protects embryonic cortical neurons from camptothecin intoxication by a mechanism distinct from BDNF

(2012) Caroline Gouarné et al.   BRITISH JOURNAL OF PHARMACOLOGY

Newborn Screening for Spinal Muscular Atrophy by Calibrated Short-Amplicon Melt Profiling

(2012) S. F. Dobrowolski et al.   CLINICAL CHEMISTRY

SMN-inducing compounds for the treatment of spinal muscular atrophy

(2012) Monique A Lorson et al.   Future Medicinal Chemistry

VPA response in SMA is suppressed by the fatty acid translocase CD36

(2012) L. Garbes et al.   HUMAN MOLECULAR GENETICS

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

(2012) Gabriel Sanchez et al.   HUMAN MOLECULAR GENETICS

Childhood spinal muscular atrophy: controversies and challenges

(2012) Eugenio Mercuri et al.   LANCET NEUROLOGY

Olesoxime delays muscle denervation, astrogliosis, microglial activation and motoneuron death in an ALS mouse model

(2012) C. Sunyach et al.   NEUROPHARMACOLOGY

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

Spinal muscular atrophy: going beyond the motor neuron

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

Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid

(2011) Illora A Darbar et al.   BMC Neurology

The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin

(2011) Anna Nölle et al.   HUMAN MOLECULAR GENETICS

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

SMA CARNI-VAL TRIAL PART II: A Prospective, Single-Armed Trial of L-Carnitine and Valproic Acid in Ambulatory Children with Spinal Muscular Atrophy

(2011) John T. Kissel et al.   PLoS One

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

(2010) Elisa Dominguez et al.   HUMAN MOLECULAR GENETICS

Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery

(2010) Adam K. Bevan et al.   HUMAN MOLECULAR GENETICS

Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model

(2010) Mélissa Bowerman et al.   HUMAN MOLECULAR GENETICS

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

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

SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy

(2010) Kathryn J. Swoboda et al.   PLoS One

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

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

Phase II Open Label Study of Valproic Acid in Spinal Muscular Atrophy

(2009) Kathryn J. Swoboda et al.   PLoS One

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

(2008) Zhenxi Zhang et al.   CELL

Spinal muscular atrophy

(2008) Mitchell R Lunn et al.   LANCET

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

(2008) G. E. Oprea et al.   SCIENCE