Spinal muscular atrophy: from gene discovery to clinical trials (Q26824894)

main subject

spinal muscular atrophy

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Dian K. Nurputra

1

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Poh San Lai

2

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Nur Imma F. Harahap

3

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Satoru Morikawa

4

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Tomoto Yamamoto

5

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Noriyuki Nishimura

6

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Yuji Kubo

7

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Atsuko Takeuchi

8

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Toshio Saito

9

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Yasuhiro Takeshima

10

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Yumi Tohyama

11

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Stacey KH Tay

12

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Poh Sim Low

13

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Kayoko Saito

14

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Hisahide Nishio

15

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language of work or name

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September 2013

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published in

Annals of Human Genetics

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volume

77

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issue

5

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page(s)

435-63

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ACOG committee opinion No. 432: spinal muscular atrophy

cites work

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

21 January 2018

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Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

21 January 2018

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Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

21 January 2018

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Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells

21 January 2018

1 reference

Determination of SMN1 and SMN2 copy number using TaqMan technology

21 January 2018

1 reference

Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy

21 January 2018

1 reference

Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy.

21 January 2018

1 reference

Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy

21 January 2018

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In vivo NMDA receptor activation accelerates motor unit maturation, protects spinal motor neurons, and enhances SMN2 gene expression in severe spinal muscular atrophy mice.

21 January 2018

1 reference

Identification and characterization of cholest-4-en-3-one, oxime (TRO19622), a novel drug candidate for amyotrophic lateral sclerosis

21 January 2018

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Increased IGF-1 in muscle modulates the phenotype of severe SMA mice

21 January 2018

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SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis.

21 January 2018

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

21 January 2018

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

21 January 2018

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Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

21 January 2018

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Shift from extracellular signal-regulated kinase to AKT/cAMP response element-binding protein pathway increases survival-motor-neuron expression in spinal-muscular-atrophy-like mice and patient cells.

21 January 2018

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Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

21 January 2018

1 reference

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

21 January 2018

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Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

21 January 2018

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Regulation of SMN protein stability

21 January 2018

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A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

21 January 2018

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Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy

21 January 2018

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Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy

21 January 2018

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Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype

21 January 2018

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Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis.

21 January 2018

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Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

21 January 2018

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Correction of disease-associated exon skipping by synthetic exon-specific activators

21 January 2018

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SMN and Gemins: 'we are family' … or are we?: insights into the partnership between Gemins and the spinal muscular atrophy disease protein SMN.

21 January 2018

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Carrier incidence for spinal muscular atrophy in southern Chinese

21 January 2018

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Treatment of spinal muscular atrophy by sodium butyrate

21 January 2018

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Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy

21 January 2018

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Identification of bidirectional gene conversion between SMN1 and SMN2 by simultaneous analysis of SMN dosage and hybrid genes in a Chinese population

21 January 2018

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Rapid diagnosis of spinal muscular atrophy using high-resolution melting analysis

21 January 2018

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A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity

21 January 2018

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Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations

21 January 2018

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Restoration of SMN function: delivery of a trans-splicing RNA re-directs SMN2 pre-mRNA splicing

21 January 2018

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Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy

21 January 2018

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The survival motor neuron protein in spinal muscular atrophy

21 January 2018

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Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy

21 January 2018

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Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice.

21 January 2018

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Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study

21 January 2018

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Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling

21 January 2018

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

21 January 2018

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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.

21 January 2018

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Spinal muscular atrophy: the role of SMN in axonal mRNA regulation.

21 January 2018

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

21 January 2018

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Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

21 January 2018

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Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study

21 January 2018

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The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis

21 January 2018

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RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

21 January 2018

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LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate

21 January 2018

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

21 January 2018

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Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

21 January 2018

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Carrier testing for spinal muscular atrophy

21 January 2018

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The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability

21 January 2018

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Robust quantification of the SMN gene copy number by real-time TaqMan PCR.

21 January 2018

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Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells

21 January 2018

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21 January 2018

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In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy

21 January 2018

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Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy

21 January 2018

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Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo

21 January 2018

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Differences in SMN1 allele frequencies among ethnic groups within North America

21 January 2018

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Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

21 January 2018

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hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1

21 January 2018

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A mouse model for spinal muscular atrophy

21 January 2018

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Triptolide increases transcript and protein levels of survival motor neurons in human SMA fibroblasts and improves survival in SMA-like mice

21 January 2018

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Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

21 January 2018

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

21 January 2018

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Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice

21 January 2018

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

21 January 2018

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Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy

21 January 2018

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Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death

21 January 2018

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Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy.

21 January 2018

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A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2.

21 January 2018

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An intronic element contributes to splicing repression in spinal muscular atrophy.

21 January 2018

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Oral administration of the thyrotropin-releasing hormone (TRH) analogue, taltireline hydrate, in spinal muscular atrophy

21 January 2018

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Newborn screening: new developments, new dilemmas.

21 January 2018

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Pilot trial of albuterol in spinal muscular atrophy

21 January 2018

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SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy

21 January 2018

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Spinal muscular atrophy: a timely review

21 January 2018

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Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice

21 January 2018

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A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy

21 January 2018

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Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR

21 January 2018

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Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

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Is high resolution melting analysis (HRMA) accurate for detection of human disease-associated mutations? A meta analysis

21 January 2018

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Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3' splice site pairing

21 January 2018

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Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy

21 January 2018

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The cost-effectiveness of prenatal screening for spinal muscular atrophy

21 January 2018

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A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

21 January 2018

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An SMN-dependent U12 splicing event essential for motor circuit function

21 January 2018

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Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism

21 January 2018

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The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation

21 January 2018

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A screen for regulators of survival of motor neuron protein levels

21 January 2018

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Non-coding RNAs: lessons from the small nuclear and small nucleolar RNAs

21 January 2018

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Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model

21 January 2018

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Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts

21 January 2018

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Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

21 January 2018

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Childhood spinal muscular atrophy: controversies and challenges

21 January 2018

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Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

21 January 2018

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Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study

21 January 2018

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Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation

21 January 2018

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A placebo-controlled trial of gabapentin in spinal muscular atrophy

21 January 2018

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Identification of a cis-acting element for the regulation of SMN exon 7 splicing

21 January 2018

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An intronic splicing enhancer element in survival motor neuron (SMN) pre-mRNA.

21 January 2018

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IPLEX administration improves motor neuron survival and ameliorates motor functions in a severe mouse model of spinal muscular atrophy

21 January 2018

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

21 January 2018

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Genetic testing and risk assessment for spinal muscular atrophy (SMA).

21 January 2018

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Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy

21 January 2018

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The changing natural history of spinal muscular atrophy type 1

21 January 2018

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Daily salbutamol in young patients with SMA type II

21 January 2018

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CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy

21 January 2018

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Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy

21 January 2018

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

21 January 2018

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A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing

21 January 2018

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Chaperoning ribonucleoprotein biogenesis in health and disease

21 January 2018

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A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse

21 January 2018

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Spinal muscular atrophy diagnostics

21 January 2018

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Carrier screening for spinal muscular atrophy

21 January 2018

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A positive modifier of spinal muscular atrophy in the SMN2 gene

21 January 2018

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Drug Discovery and Development for Spinal Muscular Atrophy: Lessons from Screening Approaches and Future Challenges for Clinical Development

21 January 2018

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Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy

21 January 2018

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

21 January 2018

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The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells

21 January 2018

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Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons

21 January 2018

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Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

21 January 2018

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Beta-lactam antibiotics offer neuroprotection by increasing glutamate transporter expression.

21 January 2018

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A Phase 1 Trial of Riluzole in Spinal Muscular Atrophy

21 January 2018

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Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

21 January 2018

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Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population

21 January 2018

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DcpS as a therapeutic target for spinal muscular atrophy

21 January 2018

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Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron

21 January 2018

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In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes

21 January 2018

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Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes.

21 January 2018

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A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes

21 January 2018

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Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts

21 January 2018

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Identification of survival motor neuron as a transcriptional activator-binding protein.

21 January 2018

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Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test

21 January 2018

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Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study

21 January 2018

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Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

21 January 2018

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Large-scale population carrier screening for spinal muscular atrophy in Israel--effect of ethnicity on the false-negative rate.

21 January 2018

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Valproic acid increases SMN levels in spinal muscular atrophy patient cells.

21 January 2018

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Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice

21 January 2018

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Perspectives on clinical trials in spinal muscular atrophy

21 January 2018

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Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

21 January 2018

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SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy

21 January 2018

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Phase II open label study of valproic acid in spinal muscular atrophy

21 January 2018

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Efficacy of thyrotropin-releasing hormone in the treatment of spinal muscular atrophy

21 January 2018

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Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy.

21 January 2018

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Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design

21 January 2018

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SMN requirement for synaptic vesicle, active zone and microtubule postnatal organization in motor nerve terminals

21 January 2018

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SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy.

21 January 2018

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Therapy development for spinal muscular atrophy in SMN independent targets.

21 January 2018

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IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice

21 January 2018

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A study of thyrotropin-releasing hormone for the treatment of spinal muscular atrophy: a preliminary report

21 January 2018

2 references

21 January 2018

7 January 2021

The insulin-like growth factor family: molecular mechanisms, redox regulation, and clinical implications

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Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype

21 January 2018

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Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy

21 January 2018

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Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number

21 January 2018

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Spinal muscular atrophy: from gene to therapy

21 January 2018

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Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

21 January 2018

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A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels

21 January 2018

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59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands.

21 January 2018

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SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing

21 January 2018

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SMN deficiency reduces cellular ability to form stress granules, sensitizing cells to stress.

21 January 2018

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Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification

21 January 2018

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Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

21 January 2018

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Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

21 January 2018

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Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14

21 January 2018

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Molecular analysis and prenatal prediction of spinal muscular atrophy in Chinese patients by the combination of restriction fragment length polymorphism analysis, denaturing high-performance liquid chromatography, and linkage analysis

21 January 2018

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7 January 2021

Genetic risk assessment in carrier testing for spinal muscular atrophy

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7 January 2021

Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy

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7 January 2021

Newborn and carrier screening for spinal muscular atrophy

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7 January 2021

Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying theSMN1gene

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7 January 2021

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

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7 January 2021

A novel nuclear structure containing the survival of motor neurons protein

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7 January 2021

Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy

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7 January 2021

The prenatal diagnosis of spinal muscular atrophy

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7 January 2021

Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity

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7 January 2021

A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins

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7 January 2021

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7

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7 January 2021

Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity

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7 January 2021

An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy

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7 January 2021

Quick MLPA test for quantification of SMN1 and SMN2 copy numbers

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7 January 2021

The gross motor function measure™ is a valid and sensitive outcome measure for spinal muscular atrophy

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7 January 2021

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy

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7 January 2021

Spinal muscular atrophy: newborn and carrier screening

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7 January 2021

PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy

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7 January 2021

SMN oligomerization defect correlates with spinal muscular atrophy severity

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7 January 2021

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

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7 January 2021

Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy

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7 January 2021

SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion

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7 January 2021

Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene

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7 January 2021

Population screening and cascade testing for carriers of SMA

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7 January 2021

Diagnosis of Spinal Muscular Atrophy Via High-Resolution Melting Analysis Symmetric Polymerase Chain Reaction Without Probe: A Screening Evaluation forSMN1Deletions and Intragenic Mutations

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7 January 2021

Combination of SMN trans-splicing and a neurotrophic factor increases the life span and body mass in a severe model of spinal muscular atrophy

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7 January 2021

Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model

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7 January 2021

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

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7 January 2021

Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord

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7 January 2021

SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

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7 January 2021

Hyperprolactinemia-induced precocious puberty: studies on the mechanism(s) by which prolactin enhances ovarian progesterone responsiveness to gonadotropins in prepubertal rats

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7 January 2021

Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy

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7 January 2021

Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization.

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7 January 2021

Mechanisms of precocious puberty induced in male rats by pituitary grafts

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7 January 2021

Determination of SMN1 and SMN2 copy numbers in a Korean population using multiplex ligation-dependent probe amplification

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7 January 2021