| scholarly article | Q13442814 |
| P2093 | author name string | Christian L Lorson | |
| Virginia B Mattis | |||
| Cheng-Wei Chang | |||
| Allison D Ebert | |||
| Marina Y Fosso | |||
| P2860 | cites work | Development of a single vector system that enhances trans-splicing of SMN2 transcripts | Q21092173 |
| A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing | Q22008514 | ||
| The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis | Q24316121 | ||
| Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. | Q24539804 | ||
| Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism | Q24613087 | ||
| Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy | Q24647245 | ||
| Crystal structure of paromomycin docked into the eubacterial ribosomal decoding A site | Q27635191 | ||
| Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy | Q28177632 | ||
| Spliceosomal UsnRNP biogenesis, structure and function | Q28188106 | ||
| International SMA consortium meeting. (26-28 June 1992, Bonn, Germany) | Q67481178 | ||
| Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations | Q70992845 | ||
| Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord | Q73248527 | ||
| An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN | Q73295491 | ||
| SMN oligomerization defect correlates with spinal muscular atrophy severity | Q74557706 | ||
| Subcellular distribution of survival motor neuron (SMN) protein: possible involvement in nucleocytoplasmic and dendritic transport | Q78163657 | ||
| Spinal muscular atrophy and therapeutic prospects | Q79318646 | ||
| Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity | Q81303651 | ||
| 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 | Q81385781 | ||
| Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy | Q28201294 | ||
| Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts | Q28261807 | ||
| Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition | Q28288824 | ||
| Regulation of SMN protein stability | Q28304878 | ||
| Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons | Q28576647 | ||
| Identification and characterization of a spinal muscular atrophy-determining gene | Q29547495 | ||
| Induced pluripotent stem cells from a spinal muscular atrophy patient | Q29614340 | ||
| A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy | Q29617367 | ||
| Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo | Q30486481 | ||
| Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs | Q33300324 | ||
| Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers | Q34003192 | ||
| PTC124 targets genetic disorders caused by nonsense mutations | Q34003720 | ||
| A negatively acting bifunctional RNA increases survival motor neuron both in vitro and in vivo | Q34132150 | ||
| PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model | Q34749864 | ||
| Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. | Q35567371 | ||
| Therapeutics development for spinal muscular atrophy | Q36428761 | ||
| SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing | Q36746476 | ||
| A SMNDelta7 read-through product confers functionality to the SMNDelta7 protein | Q36861999 | ||
| SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain | Q36934614 | ||
| Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy | Q37154271 | ||
| Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy | Q37236684 | ||
| Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy | Q37294764 | ||
| Embryonic motor axon development in the severe SMA mouse | Q37294791 | ||
| Introducing sense into nonsense in treatments of human genetic diseases | Q37304422 | ||
| Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice | Q37352940 | ||
| RNA sequence determinants for aminoglycoside binding to an A-site rRNA model oligonucleotide | Q38352446 | ||
| Widespread gene delivery and structure-specific patterns of expression in the brain after intraventricular injections of neonatal mice with an adeno-associated virus vector | Q39611260 | ||
| Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin | Q40471617 | ||
| Valproic acid increases SMN levels in spinal muscular atrophy patient cells. | Q40620622 | ||
| Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications | Q40986555 | ||
| Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line | Q41080762 | ||
| Aminoglycoside suppression at UAG, UAA and UGA codons in Escherichia coli and human tissue culture cells | Q41875361 | ||
| Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis. | Q45026873 | ||
| A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels | Q46404171 | ||
| Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial | Q46415131 | ||
| Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis. | Q47073257 | ||
| QNQKE targeting motif for the SMN-Gemin multiprotein complexin neurons | Q48190346 | ||
| In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy | Q48485610 | ||
| Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization. | Q48586550 | ||
| Modulation of SMN nuclear foci and cytoplasmic localization by its C-terminus. | Q50787355 | ||
| Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model | Q61875385 | ||
| P433 | issue | 20 | |
| P921 | main subject | spinal muscular atrophy | Q580290 |
| muscular atrophy | Q2844600 | ||
| P304 | page(s) | 3906-3913 | |
| P577 | publication date | 2009-07-21 | |
| P1433 | published in | Human Molecular Genetics | Q2720965 |
| P1476 | title | Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model | |
| P478 | volume | 18 |
| Q55497000 | Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons. |
| Q47326437 | Aminoglycoside interactions and impacts on the eukaryotic ribosome. |
| Q30820082 | Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia. |
| Q50952118 | Analysis of Azithromycin Monohydrate as a Single or a Combinatorial Therapy in a Mouse Model of Severe Spinal Muscular Atrophy. |
| Q41773227 | Analysis of a read-through promoting compound in a severe mouse model of spinal muscular atrophy |
| Q34168139 | Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy |
| Q35665141 | Bifunctional RNAs targeting the intronic splicing silencer N1 increase SMN levels and reduce disease severity in an animal model of spinal muscular atrophy |
| Q34223131 | Delivery of therapeutic agents through intracerebroventricular (ICV) and intravenous (IV) injection in mice |
| Q38014955 | Developments in the discovery of drugs for spinal muscular atrophy: successful beginnings and future prospects |
| Q35683524 | Disruption of the Survival Motor Neuron (SMN) gene in pigs using ssDNA. |
| Q39092025 | Diverse role of survival motor neuron protein |
| Q34172502 | Drug discovery and development for spinal muscular atrophy: lessons from screening approaches and future challenges for clinical development |
| Q89477851 | Drug treatment for spinal muscular atrophy types II and III |
| Q33730194 | Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy |
| Q34760255 | Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug-like compounds |
| Q24645662 | Four decades of neurodegenerative disease research: how far we have come! |
| Q37857439 | Induced pluripotent stem cells: a new revolution for clinical neurology? |
| Q38441280 | Investigational therapies for the treatment of spinal muscular atrophy. |
| Q51563569 | Modeling neurodegenerative diseases using stem cells: is it accelerating drug discovery? |
| Q38006384 | Mouse models of SMA: tools for disease characterization and therapeutic development |
| Q38197609 | Neurodegeneration in spinal muscular atrophy: from disease phenotype and animal models to therapeutic strategies and beyond |
| Q34237525 | New therapeutic approaches to spinal muscular atrophy |
| Q33951177 | New trends in aminoglycosides use. |
| Q30743508 | Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy. |
| Q38072030 | Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease |
| Q28271235 | SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy |
| Q34312156 | SMN-inducing compounds for the treatment of spinal muscular atrophy |
| Q36095048 | Small Molecules in Development for the Treatment of Spinal Muscular Atrophy |
| Q39773596 | Spinal muscular atrophy: an update |
| Q37302832 | Spinal muscular atrophy: an update on therapeutic progress |
| Q26861377 | Spinal muscular atrophy: development and implementation of potential treatments |
| Q26824894 | Spinal muscular atrophy: from gene discovery to clinical trials |
| Q35340133 | Spinal muscular atrophy: journeying from bench to bedside |
| Q33871311 | Spinal muscular atrophy: mechanisms and therapeutic strategies |
| Q33819144 | Spinal muscular atrophy: new and emerging insights from model mice |
| Q34221047 | Statistical analysis of readthrough levels for nonsense mutations in mammalian cells reveals a major determinant of response to gentamicin. |
| Q27496630 | Subcutaneous administration of TC007 reduces disease severity in an animal model of SMA |
| Q36203719 | Suppression of premature termination codons as a therapeutic approach. |
| Q44329621 | Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy |
| Q41683448 | Systems biology investigation of cAMP modulation to increase SMN levels for the treatment of spinal muscular atrophy |
| Q38737126 | Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs). |
| Q34192528 | Temporal requirement for high SMN expression in SMA mice |
| Q26765894 | The Progress of Induced Pluripotent Stem Cells as Models of Parkinson's Disease |
| Q35967715 | The effect of the DcpS inhibitor D156844 on the protective action of follistatin in mice with spinal muscular atrophy |
| Q39340546 | Therapeutic approaches for spinal muscular atrophy (SMA). |
| Q34296140 | Therapeutic strategies for the treatment of spinal muscular atrophy. |
| Q37638359 | Therapeutics based on stop codon readthrough |
| Q36014761 | Therapy development for spinal muscular atrophy in SMN independent targets. |
| Q26801496 | Translational readthrough potential of natural termination codons in eucaryotes--The impact of RNA sequence |
| Q34306857 | VPA response in SMA is suppressed by the fatty acid translocase CD36. |
| Q42142778 | When Proteins Start to Make Sense: Fine-tuning Aminoglycosides for PTC Suppression Therapy |
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