Published in Hum Mol Genet on June 15, 2003
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci (2009) 4.16
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest (2007) 3.11
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet (2008) 2.82
Rhomboid family pseudoproteases use the ER quality control machinery to regulate intercellular signaling. Cell (2011) 2.71
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Hum Mol Genet (2008) 2.35
The Drosophila melanogaster Cajal body. J Cell Biol (2006) 2.06
An SMN-dependent U12 splicing event essential for motor circuit function. Cell (2012) 1.94
Modeling spinal muscular atrophy in Drosophila. PLoS One (2008) 1.71
SMN is required for sensory-motor circuit function in Drosophila. Cell (2012) 1.68
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The Cajal body and histone locus body. Cold Spring Harb Perspect Biol (2010) 1.60
A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle. J Cell Biol (2007) 1.60
Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy. J Cell Biol (2007) 1.57
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy. Hum Mol Genet (2009) 1.46
Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy. J Neurosci (2012) 1.44
Genetic Interactions between the Members of the SMN-Gemins Complex in Drosophila. PLoS One (2015) 1.40
Drosophila melanogaster in the study of human neurodegeneration. CNS Neurol Disord Drug Targets (2010) 1.33
Flightless flies: Drosophila models of neuromuscular disease. Ann N Y Acad Sci (2010) 1.28
Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload. Am J Pathol (2004) 1.24
Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects. Hum Mol Genet (2009) 1.24
Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease? J Anat (2013) 1.23
Spinal muscular atrophy: new and emerging insights from model mice. Curr Neurol Neurosci Rep (2010) 1.21
Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes. Results Probl Cell Differ (2009) 1.17
The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy. Dis Model Mech (2011) 1.15
Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan. Hum Mol Genet (2008) 1.08
Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy. J Clin Invest (2014) 1.08
SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain. Hum Mol Genet (2008) 1.07
Conserved genes act as modifiers of invertebrate SMN loss of function defects. PLoS Genet (2010) 1.07
Spinal muscular atrophy. Neurotherapeutics (2008) 1.06
Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy. PLoS One (2012) 1.03
Alzheimer's disease: insights from Drosophila melanogaster models. Trends Biochem Sci (2009) 1.03
Spinal muscular atrophy: development and implementation of potential treatments. Ann Neurol (2013) 1.01
A Drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects. Cell Rep (2012) 1.01
The histone demethylase Dmel\Kdm4A controls genes required for life span and male-specific sex determination in Drosophila. Gene (2010) 0.98
A motor function for the DEAD-box RNA helicase, Gemin3, in Drosophila. PLoS Genet (2008) 0.98
Homeostatic plasticity at the Drosophila neuromuscular junction. Neuropharmacology (2013) 0.97
Temporal requirement for SMN in motoneuron development. Hum Mol Genet (2013) 0.96
Modeling spinal muscular atrophy in Drosophila links Smn to FGF signaling. J Cell Biol (2011) 0.96
Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice. Hum Mol Genet (2011) 0.94
Gemin3 is an essential gene required for larval motor function and pupation in Drosophila. Mol Biol Cell (2008) 0.92
Neurodegenerative mutants in Drosophila: a means to identify genes and mechanisms involved in human diseases? Invert Neurosci (2005) 0.91
Targeting RNA-splicing for SMA treatment. Mol Cells (2012) 0.91
A large animal model of spinal muscular atrophy and correction of phenotype. Ann Neurol (2015) 0.90
Drosophila melanogaster as a model organism of brain diseases. Int J Mol Sci (2009) 0.90
Survival motor neuron protein regulates stem cell division, proliferation, and differentiation in Drosophila. PLoS Genet (2011) 0.89
Genetic circuitry of Survival motor neuron, the gene underlying spinal muscular atrophy. Proc Natl Acad Sci U S A (2013) 0.86
Molecular determinants of survival motor neuron (SMN) protein cleavage by the calcium-activated protease, calpain. PLoS One (2010) 0.84
Drosophila as an In Vivo Model for Human Neurodegenerative Disease. Genetics (2015) 0.83
SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in Drosophila. PLoS Genet (2014) 0.82
Diverse role of Survival Motor Neuron Protein. Biochim Biophys Acta (2017) 0.81
All neuropathies great and small. J Clin Invest (2005) 0.81
Alpha-synuclein loss in spinal muscular atrophy. J Mol Neurosci (2010) 0.81
Analysis of the fibroblast growth factor system reveals alterations in a mouse model of spinal muscular atrophy. PLoS One (2012) 0.81
The Gemin associates of survival motor neuron are required for motor function in Drosophila. PLoS One (2013) 0.81
Drosophila Zpr1 (Zinc finger protein 1) is required downstream of both EGFR and FGFR signaling in tracheal subcellular lumen formation. PLoS One (2012) 0.81
Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy. J Exp Neurosci (2016) 0.80
Genome-wide expression analysis of a spinal muscular atrophy model: towards discovery of new drug targets. PLoS One (2008) 0.80
PTEN depletion decreases disease severity and modestly prolongs survival in a mouse model of spinal muscular atrophy. Mol Ther (2014) 0.79
Behavioral and electrophysiological outcomes of tissue-specific Smn knockdown in Drosophila melanogaster. Brain Res (2012) 0.79
Shared mechanisms between Drosophila peripheral nervous system development and human neurodegenerative diseases. Curr Opin Neurobiol (2014) 0.78
Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD). PLoS One (2016) 0.77
GEMINs: potential therapeutic targets for spinal muscular atrophy? Front Neurosci (2014) 0.77
A computation using mutually exclusive processing is sufficient to identify specific Hedgehog signaling components. Front Genet (2013) 0.75
Model systems of motor neuron diseases as a platform for studying pathogenic mechanisms and searching for therapeutic agents. Acta Naturae (2015) 0.75
Neuron-specific knock-down of SMN1 causes neuron degeneration and death through an apoptotic mechanism. Hum Mol Genet (2016) 0.75
Therapeutic strategies for spinal muscular atrophy: SMN and beyond. Dis Model Mech (2017) 0.75
The genome of the model beetle and pest Tribolium castaneum. Nature (2008) 6.50
Functional and evolutionary insights from the genomes of three parasitoid Nasonia species. Science (2010) 5.56
A functional genetic link between distinct developmental language disorders. N Engl J Med (2008) 4.99
Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev (2002) 4.80
The mixed-lineage leukemia fusion partner AF4 stimulates RNA polymerase II transcriptional elongation and mediates coordinated chromatin remodeling. Hum Mol Genet (2006) 3.39
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. Cell (2007) 3.06
Pharmacological strategies for muscular dystrophy. Nat Rev Drug Discov (2003) 2.32
Long noncoding RNA genes: conservation of sequence and brain expression among diverse amniotes. Genome Biol (2010) 2.20
Specification of neuronal identities by feedforward combinatorial coding. PLoS Biol (2007) 2.19
Current status of pharmaceutical and genetic therapeutic approaches to treat DMD. Mol Ther (2011) 2.06
Hsp72 preserves muscle function and slows progression of severe muscular dystrophy. Nature (2012) 2.04
High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders. Am J Hum Genet (2007) 2.01
Functional genetic analysis of mutations implicated in a human speech and language disorder. Hum Mol Genet (2006) 1.85
Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS Genet (2009) 1.76
Therapy for Duchenne muscular dystrophy: renewed optimism from genetic approaches. Nat Rev Genet (2013) 1.70
The Caenorhabditis elegans unc-63 gene encodes a levamisole-sensitive nicotinic acetylcholine receptor alpha subunit. J Biol Chem (2004) 1.70
Novel markers reveal subpopulations of subplate neurons in the murine cerebral cortex. Cereb Cortex (2008) 1.67
Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment. EMBO Rep (2004) 1.66
A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice. Proc Natl Acad Sci U S A (2009) 1.66
Enteric neurons and systemic signals couple nutritional and reproductive status with intestinal homeostasis. Cell Metab (2011) 1.63
Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain. PLoS Genet (2011) 1.56
A fluorescent reporter of caspase activity for live imaging. Proc Natl Acad Sci U S A (2008) 1.55
Specification of neuropeptide cell identity by the integration of retrograde BMP signaling and a combinatorial transcription factor code. Cell (2003) 1.53
The digestive tract of Drosophila melanogaster. Annu Rev Genet (2013) 1.52
Thymol, a constituent of thyme essential oil, is a positive allosteric modulator of human GABA(A) receptors and a homo-oligomeric GABA receptor from Drosophila melanogaster. Br J Pharmacol (2003) 1.45
Fast, automated measurement of nematode swimming (thrashing) without morphometry. BMC Neurosci (2009) 1.44
Utrophin binds laterally along actin filaments and can couple costameric actin with sarcolemma when overexpressed in dystrophin-deficient muscle. Mol Biol Cell (2002) 1.44
Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan. J Cell Biol (2007) 1.39
Role in the selectivity of neonicotinoids of insect-specific basic residues in loop D of the nicotinic acetylcholine receptor agonist binding site. Mol Pharmacol (2006) 1.36
The nicotinic acetylcholine receptor gene family of the honey bee, Apis mellifera. Genome Res (2006) 1.36
Expansion of revertant fibers in dystrophic mdx muscles reflects activity of muscle precursor cells and serves as an index of muscle regeneration. J Cell Sci (2006) 1.34
Functional genomics of the nicotinic acetylcholine receptor gene family of the nematode, Caenorhabditis elegans. Bioessays (2004) 1.34
Is spinal muscular atrophy the result of defects in motor neuron processes? Bioessays (2005) 1.33
Prevention of dystrophic pathology in severely affected dystrophin/utrophin-deficient mice by morpholino-oligomer-mediated exon-skipping. Mol Ther (2009) 1.31
The Caenorhabditis elegans lev-8 gene encodes a novel type of nicotinic acetylcholine receptor alpha subunit. J Neurochem (2005) 1.31
Therapeutic approaches to muscular dystrophy. Hum Mol Genet (2011) 1.30
A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouse. J Neurosci (2003) 1.29
Daily treatment with SMTC1100, a novel small molecule utrophin upregulator, dramatically reduces the dystrophic symptoms in the mdx mouse. PLoS One (2011) 1.29
Ion channels: molecular targets of neuroactive insecticides. Invert Neurosci (2005) 1.28
Identification and characterization of murine SCARA5, a novel class A scavenger receptor that is expressed by populations of epithelial cells. J Biol Chem (2006) 1.25
Nicotinic acetylcholine receptor signalling: roles in Alzheimer's disease and amyloid neuroprotection. Pharmacol Rev (2009) 1.24
Chemistry-to-gene screens in Caenorhabditis elegans. Nat Rev Drug Discov (2005) 1.23
A dominant mutation in Snap25 causes impaired vesicle trafficking, sensorimotor gating, and ataxia in the blind-drunk mouse. Proc Natl Acad Sci U S A (2007) 1.22
A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes. Hum Mol Genet (2005) 1.21
Diaphragm rescue alone prevents heart dysfunction in dystrophic mice. Hum Mol Genet (2010) 1.19
A Drosophila melanogaster cell line (S2) facilitates post-genome functional analysis of receptors and ion channels. Bioessays (2002) 1.19
Translating the genomics revolution: the need for an international gene therapy consortium for monogenic diseases. Mol Ther (2013) 1.16
Strategies for automated analysis of C. elegans locomotion. Invert Neurosci (2008) 1.15
Sarcolemmal nNOS anchoring reveals a qualitative difference between dystrophin and utrophin. J Cell Sci (2010) 1.14
Neonicotinoid insecticides display partial and super agonist actions on native insect nicotinic acetylcholine receptors. J Neurochem (2006) 1.14
The nicotinic acetylcholine receptors of the parasitic nematode Ascaris suum: formation of two distinct drug targets by varying the relative expression levels of two subunits. PLoS Pathog (2009) 1.13
Oxr1 is essential for protection against oxidative stress-induced neurodegeneration. PLoS Genet (2011) 1.13
ZZ domain is essentially required for the physiological binding of dystrophin and utrophin to beta-dystroglycan. Hum Mol Genet (2004) 1.12
The nicotinic acetylcholine receptor gene family of the nematode Caenorhabditis elegans: an update on nomenclature. Invert Neurosci (2007) 1.12
Rescue of severely affected dystrophin/utrophin-deficient mice through scAAV-U7snRNA-mediated exon skipping. Hum Mol Genet (2012) 1.10
Identification of valid housekeeping genes for quantitative RT-PCR analysis of cardiosphere-derived cells preconditioned under hypoxia or with prolyl-4-hydroxylase inhibitors. Mol Biol Rep (2011) 1.10
The Pathogenesis and Therapy of Muscular Dystrophies. Annu Rev Genomics Hum Genet (2015) 1.08
Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan. Hum Mol Genet (2008) 1.08
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. Hum Mol Genet (2004) 1.08
Genome of the house fly, Musca domestica L., a global vector of diseases with adaptations to a septic environment. Genome Biol (2014) 1.08
Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies. Brain (2011) 1.08
Muscular dystrophy--reason for optimism? Cell (2002) 1.07
Dystrophin- and MLP-deficient mouse hearts: marked differences in morphology and function, but similar accumulation of cytoskeletal proteins. FASEB J (2004) 1.07
A- and B-utrophin have different expression patterns and are differentially up-regulated in mdx muscle. J Biol Chem (2002) 1.07
Generation and characterization of transgenic mice with the full-length human DMD gene. J Biol Chem (2007) 1.07
The fly as a model for neurodegenerative diseases: is it worth the jump? Neurodegener Dis (2006) 1.07
Differential range and activity of various forms of the Hedgehog protein. BMC Dev Biol (2005) 1.07
The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy. Brain (2004) 1.06
The nicotinic acetylcholine receptor gene family of the malaria mosquito, Anopheles gambiae. Genomics (2005) 1.06
Cotinine reduces amyloid-β aggregation and improves memory in Alzheimer's disease mice. J Alzheimers Dis (2011) 1.05
Evaluating the links between schizophrenia and sleep and circadian rhythm disruption. J Neural Transm (Vienna) (2012) 1.05
A-utrophin up-regulation in mdx skeletal muscle is independent of regeneration. Neuromuscul Disord (2004) 1.05
The cys-loop ligand-gated ion channel gene superfamily of the nematode, Caenorhabditis elegans. Invert Neurosci (2008) 1.03
AAV genome loss from dystrophic mouse muscles during AAV-U7 snRNA-mediated exon-skipping therapy. Mol Ther (2013) 1.03
Alzheimer's disease: insights from Drosophila melanogaster models. Trends Biochem Sci (2009) 1.03
Splice-variant- and stage-specific RNA editing of the Drosophila GABA receptor modulates agonist potency. J Neurosci (2009) 1.02
Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model. Neurobiol Dis (2009) 1.02
Novel animal-health drug targets from ligand-gated chloride channels. Nat Rev Drug Discov (2002) 1.02
SNARE proteins and schizophrenia: linking synaptic and neurodevelopmental hypotheses. Acta Biochim Pol (2008) 1.02
Association of syncoilin and desmin: linking intermediate filament proteins to the dystrophin-associated protein complex. J Biol Chem (2001) 1.00
Enhanced exon-skipping induced by U7 snRNA carrying a splicing silencer sequence: Promising tool for DMD therapy. Mol Ther (2009) 1.00
Abnormal cardiac morphology, function and energy metabolism in the dystrophic mdx mouse: an MRI and MRS study. J Mol Cell Cardiol (2008) 1.00
The role of utrophin in the potential therapy of Duchenne muscular dystrophy. Neuromuscul Disord (2002) 0.99
Exploring the pharmacological properties of insect nicotinic acetylcholine receptors. Trends Pharmacol Sci (2006) 0.99
Gene silencing of selected calcium-signalling molecules in a Drosophila cell line using double-stranded RNA interference. Cell Calcium (2004) 0.99
Interaction between environmental and genetic factors modulates schizophrenic endophenotypes in the Snap-25 mouse mutant blind-drunk. Hum Mol Genet (2009) 0.99
Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin. J Cell Biol (2009) 0.99
Novel alpha7-like nicotinic acetylcholine receptor subunits in the nematode Caenorhabditis elegans. Protein Sci (2002) 0.98
Utrophin up-regulation by an artificial transcription factor in transgenic mice. PLoS One (2007) 0.98
A motor function for the DEAD-box RNA helicase, Gemin3, in Drosophila. PLoS Genet (2008) 0.98
Neonicotinoids show selective and diverse actions on their nicotinic receptor targets: electrophysiology, molecular biology, and receptor modeling studies. Biosci Biotechnol Biochem (2005) 0.98
In vivo MRI characterization of progressive cardiac dysfunction in the mdx mouse model of muscular dystrophy. PLoS One (2012) 0.98
Progress in therapy for Duchenne muscular dystrophy. Exp Physiol (2011) 0.96
Discovery of 2-arylbenzoxazoles as upregulators of utrophin production for the treatment of Duchenne muscular dystrophy. J Med Chem (2011) 0.96
Diverse actions of neonicotinoids on chicken alpha7, alpha4beta2 and Drosophila-chicken SADbeta2 and ALSbeta2 hybrid nicotinic acetylcholine receptors expressed in Xenopus laevis oocytes. Neuropharmacology (2003) 0.96
Glutamate-gated chloride channels of Haemonchus contortus restore drug sensitivity to ivermectin resistant Caenorhabditis elegans. PLoS One (2011) 0.96
Disrupted circadian rhythms in a mouse model of schizophrenia. Curr Biol (2012) 0.96
Safety, tolerability, and pharmacokinetics of SMT C1100, a 2-arylbenzoxazole utrophin modulator, following single- and multiple-dose administration to healthy male adult volunteers. J Clin Pharmacol (2015) 0.95
Remote control of renal physiology by the intestinal neuropeptide pigment-dispersing factor in Drosophila. Proc Natl Acad Sci U S A (2012) 0.93