Advances in therapy for spinal muscular atrophy: promises and challenges

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

The SMA Trust: the role of a disease-focused research charity in developing treatments for SMA

(2017) V Christie-Brown et al.   GENE THERAPY

Gene therapy for spinomuscular atrophy: a biomedical advance, a missed opportunity for more equitable drug pricing

(2017) T Friedmann   GENE THERAPY

New treatments for serious conditions: ethical implications

(2017) N M P King et al.   GENE THERAPY

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

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

(2017) Emily V Fletcher et al.   NATURE NEUROSCIENCE

Spinal muscular atrophy: A changing phenotype beyond the clinical trials

(2017) Eduardo F. Tizzano et al.   NEUROMUSCULAR DISORDERS

Regulation of mRNA Translation in Neurons—A Matter of Life and Death

(2017) Mridu Kapur et al.   NEURON

The Dilemma of Two Innovative Therapies for Spinal Muscular Atrophy

(2017) Ans T. van der Ploeg   NEW ENGLAND JOURNAL OF MEDICINE

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

Willingness to Pay for a Newborn Screening Test for Spinal Muscular Atrophy

(2017) Pei-Jung Lin et al.   PEDIATRIC NEUROLOGY

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

(2017) Annemieke Aartsma-Rus   Nucleic Acid Therapeutics

Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease

(2017) Natalia Rodriguez-Muela et al.   Cell Reports

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

Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool

(2017) Danielle Ramsey et al.   PLoS One

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

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

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

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

Intrathecal Injections in Children With Spinal Muscular Atrophy

(2016) Manon Haché et al.   JOURNAL OF CHILD NEUROLOGY

Defects in Motoneuron–Astrocyte Interactions in Spinal Muscular Atrophy

(2016) Chunyi Zhou et al.   JOURNAL OF NEUROSCIENCE

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

A U1 snRNP–specific assembly pathway reveals the SMN complex as a versatile hub for RNP exchange

(2016) Byung Ran So et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

(2016) Claudia A. Chiriboga et al.   NEUROLOGY

Disease burden of spinal muscular atrophy in Germany

(2016) Constanze Klug et al.   Orphanet Journal of Rare Diseases

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

A U1 snRNP–specific assembly pathway reveals the SMN complex as a versatile hub for RNP exchange

(2016) Byung Ran So et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

SMN and coilin negatively regulate dyskerin association with telomerase RNA

(2016) Aaron R. Poole et al.   Biology Open

The economic burden of spinal muscular atrophy

(2016) Edward P. Armstrong et al.   JOURNAL OF MEDICAL ECONOMICS

Counting the cost of spinal muscular atrophy

(2016) Thomas H. Gillingwater   JOURNAL OF MEDICAL ECONOMICS

Evaluation of Specialty Drug Price Trends Using Data from Retrospective Pharmacy Sales Transactions

(2016) Robert Penington et al.   Journal of Managed Care & Specialty Pharmacy

A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls

(2016) Renske I. Wadman et al.   PLoS One

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

(2016) Eva Szunyogova et al.   Scientific Reports

Understanding the experiences and needs of individuals with Spinal Muscular Atrophy and their parents: a qualitative study

(2015) Ying Qian et al.   BMC Neurology

Selective loss of alpha motor neurons with sparing of gamma motor neurons and spinal cord cholinergic neurons in a mouse model of spinal muscular atrophy

(2015) Rachael A. Powis et al.   JOURNAL OF ANATOMY

Disease Mechanisms and Therapeutic Approaches in Spinal Muscular Atrophy

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

Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy

(2015) Jacqueline Montes et al.   MUSCLE & NERVE

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

Access to Orphan Drugs: A Comprehensive Review of Legislations, Regulations and Policies in 35 Countries

(2015) Todd Gammie et al.   PLoS One

UBA1: At the Crossroads of Ubiquitin Homeostasis and Neurodegeneration

(2015) Ewout J.N. Groen et al.   TRENDS IN MOLECULAR MEDICINE

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

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy

(2015) Michela Ripolone et al.   JAMA Neurology

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

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

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

SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy

(2013) Gillian Hunter et al.   HUMAN MOLECULAR GENETICS

ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN

(2013) Ewout J.N. Groen et al.   HUMAN MOLECULAR GENETICS

The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein

(2013) Deborah Y. Kwon et al.   MOLECULAR BIOLOGY OF THE CELL

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

(2013) Christine E. Holt et al.   NEURON

Mechanisms underlying synaptic vulnerability and degeneration in neurodegenerative disease

(2013) T. H. Gillingwater et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

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

(2012) Melissa Bowerman et al.   BMC Medicine

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

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

(2012) Gabriel Sanchez et al.   HUMAN MOLECULAR GENETICS

Ubiquitin-specific Protease 9x Deubiquitinates and Stabilizes the Spinal Muscular Atrophy Protein-Survival Motor Neuron

(2012) Ke-Jun Han et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Synaptic defects in type I spinal muscular atrophy in human development

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

Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3

(2012) R. I. Wadman et al.   NEUROLOGY

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

Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

(2012) Thomas O. Crawford et al.   PLoS One

Spinal muscular atrophy: going beyond the motor neuron

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

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

(2012) Tomohiro Yamazaki et al.   Cell Reports

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

(2011) Anna Nölle et al.   HUMAN MOLECULAR GENETICS

Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway

(2011) Faraz Farooq 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

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

(2011) Yimin Hua et al.   NATURE

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

(2011) George Z. Mentis et al.   NEURON

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

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

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

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

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

(2010) Lisa Hubers 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

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

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

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

Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice

(2009) L. Kong et al.   JOURNAL OF NEUROSCIENCE

Mitochondrial dysfunction in a neural cell model of spinal muscular atrophy

(2009) Gyula Acsadi et al.   JOURNAL OF NEUROSCIENCE RESEARCH

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

(2009) Dirk Bäumer et al.   PLoS Genetics

Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy

(2008) Juliane Ramser 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

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

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

(2008) G. E. Oprea et al.   SCIENCE