Published in Hum Mol Genet on March 05, 2010
Rapid determination of myosin heavy chain expression in rat, mouse, and human skeletal muscle using multicolor immunofluorescence analysis. PLoS One (2012) 1.98
Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders. Skelet Muscle (2011) 1.34
Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation. Nucleic Acids Res (2012) 1.23
The ubiquitin-proteasome system in neurodegenerative diseases: precipitating factor, yet part of the solution. Front Mol Neurosci (2014) 1.10
Microgenomic analysis in skeletal muscle: expression signatures of individual fast and slow myofibers. PLoS One (2011) 1.02
Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients. Skelet Muscle (2011) 0.94
Modeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein. Am J Pathol (2011) 0.93
PABPN1: molecular function and muscle disease. FEBS J (2013) 0.92
A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging. Aging (Albany NY) (2013) 0.89
Interspecies translation of disease networks increases robustness and predictive accuracy. PLoS Comput Biol (2011) 0.86
Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis. PLoS Genet (2015) 0.83
Abnormal Skeletal Muscle Regeneration plus Mild Alterations in Mature Fiber Type Specification in Fktn-Deficient Dystroglycanopathy Muscular Dystrophy Mice. PLoS One (2016) 0.82
Loss of a single allele for Ku80 leads to progenitor dysfunction and accelerated aging in skeletal muscle. EMBO Mol Med (2012) 0.82
Impaired adaptive response to mechanical overloading in dystrophic skeletal muscle. PLoS One (2012) 0.82
Over-expression of BCL2 rescues muscle weakness in a mouse model of oculopharyngeal muscular dystrophy. Hum Mol Genet (2011) 0.82
Oculopharyngeal muscular dystrophy as a paradigm for muscle aging. Front Aging Neurosci (2014) 0.81
Differential myofiber-type transduction preference of adeno-associated virus serotypes 6 and 9. Skelet Muscle (2015) 0.80
Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy. BMC Neurol (2013) 0.78
Robust Long-term Transduction of Common Marmoset Neuromuscular Tissue With rAAV1 and rAAV9. Mol Ther Nucleic Acids (2013) 0.77
Ageing and muscular dystrophy differentially affect murine pharyngeal muscles in a region-dependent manner. J Physiol (2014) 0.76
PABPN1-Dependent mRNA Processing Induces Muscle Wasting. PLoS Genet (2016) 0.76
Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing. Nucleic Acids Res (2016) 0.76
PABPN1 gene therapy for oculopharyngeal muscular dystrophy. Nat Commun (2017) 0.75
An Antibody to Detect Alanine-Expanded PABPN1: A New Tool to Study Oculopharyngeal Muscular Dystrophy. J Neuromuscul Dis (2015) 0.75
An alanine expanded PABPN1 causes increased utilization of intronic polyadenylation sites. NPJ Aging Mech Dis (2017) 0.75
Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes. Autophagy (2007) 20.92
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease. Nat Genet (2004) 14.31
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Transcriptome and genome sequencing uncovers functional variation in humans. Nature (2013) 8.89
TFEB links autophagy to lysosomal biogenesis. Science (2011) 8.87
Alpha-Synuclein is degraded by both autophagy and the proteasome. J Biol Chem (2003) 6.84
Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy. Hum Mol Genet (2002) 6.56
Plasma membrane contributes to the formation of pre-autophagosomal structures. Nat Cell Biol (2010) 6.41
Regulation of mammalian autophagy in physiology and pathophysiology. Physiol Rev (2010) 6.35
A promoter-level mammalian expression atlas. Nature (2014) 6.25
Small molecules enhance autophagy and reduce toxicity in Huntington's disease models. Nat Chem Biol (2007) 5.78
Trehalose, a novel mTOR-independent autophagy enhancer, accelerates the clearance of mutant huntingtin and alpha-synuclein. J Biol Chem (2006) 5.39
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol (2009) 5.35
Lithium induces autophagy by inhibiting inositol monophosphatase. J Cell Biol (2005) 5.21
Autophagy inhibition compromises degradation of ubiquitin-proteasome pathway substrates. Mol Cell (2009) 5.18
Lysosomal positioning coordinates cellular nutrient responses. Nat Cell Biol (2011) 4.96
A unifying genetic model for facioscapulohumeral muscular dystrophy. Science (2010) 4.87
In search of an "autophagomometer". Autophagy (2009) 4.31
Novel targets for Huntington's disease in an mTOR-independent autophagy pathway. Nat Chem Biol (2008) 4.19
α-Synuclein impairs macroautophagy: implications for Parkinson's disease. J Cell Biol (2010) 3.67
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet (2003) 3.60
Cells respond to mechanical stress by rapid disassembly of caveolae. Cell (2011) 3.55
Does bafilomycin A1 block the fusion of autophagosomes with lysosomes? Autophagy (2008) 3.47
Rapamycin alleviates toxicity of different aggregate-prone proteins. Hum Mol Genet (2005) 3.45
Dynein mutations impair autophagic clearance of aggregate-prone proteins. Nat Genet (2005) 3.39
A block of autophagy in lysosomal storage disorders. Hum Mol Genet (2007) 3.28
The itinerary of autophagosomes: from peripheral formation to kiss-and-run fusion with lysosomes. Traffic (2008) 3.18
Aggregate-prone proteins are cleared from the cytosol by autophagy: therapeutic implications. Curr Top Dev Biol (2006) 3.02
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet (2002) 2.98
Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet (2010) 2.95
AMPKα1 regulates macrophage skewing at the time of resolution of inflammation during skeletal muscle regeneration. Cell Metab (2013) 2.92
Transcriptional abnormalities in Huntington disease. Trends Genet (2003) 2.91
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). PLoS Genet (2009) 2.90
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum Mutat (2009) 2.84
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet (2012) 2.82
Mechanisms of cross-talk between the ubiquitin-proteasome and autophagy-lysosome systems. FEBS Lett (2009) 2.58
Rapamycin pre-treatment protects against apoptosis. Hum Mol Genet (2006) 2.57
Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One (2010) 2.57
Rab5 modulates aggregation and toxicity of mutant huntingtin through macroautophagy in cell and fly models of Huntington disease. J Cell Sci (2008) 2.55
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories. Nat Biotechnol (2013) 2.53
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. Hum Mol Genet (2009) 2.51
Human muscle satellite cells as targets of Chikungunya virus infection. PLoS One (2007) 2.47
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet (2002) 2.42
Huntington's disease: from pathology and genetics to potential therapies. Biochem J (2008) 2.41
Heat shock protein 27 prevents cellular polyglutamine toxicity and suppresses the increase of reactive oxygen species caused by huntingtin. Hum Mol Genet (2002) 2.41
Autophagosome precursor maturation requires homotypic fusion. Cell (2011) 2.39
Prorenin induces intracellular signaling in cardiomyocytes independently of angiotensin II. Hypertension (2006) 2.39
Control of autophagy as a therapy for neurodegenerative disease. Nat Rev Neurol (2011) 2.38
Complex inhibitory effects of nitric oxide on autophagy. Mol Cell (2011) 2.36
Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy. J Cell Biol (2009) 2.30
Laforin, the most common protein mutated in Lafora disease, regulates autophagy. Hum Mol Genet (2010) 2.22
Statins and myopathy. Lancet (2002) 2.21
Palmitoylation of huntingtin by HIP14 is essential for its trafficking and function. Nat Neurosci (2006) 2.19
Neuroprotective role of the Reaper-related serine protease HtrA2/Omi revealed by targeted deletion in mice. Mol Cell Biol (2004) 2.15
Deep sequencing of RNA from immune cell-derived vesicles uncovers the selective incorporation of small non-coding RNA biotypes with potential regulatory functions. Nucleic Acids Res (2012) 2.15
The poly(A)-binding protein nuclear 1 suppresses alternative cleavage and polyadenylation sites. Cell (2012) 2.14
Diverse autophagosome membrane sources coalesce in recycling endosomes. Cell (2013) 2.07
Current status of pharmaceutical and genetic therapeutic approaches to treat DMD. Mol Ther (2011) 2.06
A rational mechanism for combination treatment of Huntington's disease using lithium and rapamycin. Hum Mol Genet (2007) 2.03
A comprehensive glossary of autophagy-related molecules and processes (2nd edition). Autophagy (2011) 2.02
A comprehensive glossary of autophagy-related molecules and processes. Autophagy (2010) 2.00
Human circulating AC133(+) stem cells restore dystrophin expression and ameliorate function in dystrophic skeletal muscle. J Clin Invest (2004) 2.00
RNA interference in Agrobacterium rhizogenes-transformed roots of Arabidopsis and Medicago truncatula. J Exp Bot (2004) 1.98
Cellular senescence in human myoblasts is overcome by human telomerase reverse transcriptase and cyclin-dependent kinase 4: consequences in aging muscle and therapeutic strategies for muscular dystrophies. Aging Cell (2007) 1.98
Chemical modulators of autophagy as biological probes and potential therapeutics. Nat Chem Biol (2011) 1.97
PASSion: a pattern growth algorithm-based pipeline for splice junction detection in paired-end RNA-Seq data. Bioinformatics (2012) 1.95
Adenovirus vector vaccination induces expansion of memory CD4 T cells with a mucosal homing phenotype that are readily susceptible to HIV-1. Proc Natl Acad Sci U S A (2009) 1.95
T-box transcription factor TBX3 reprogrammes mature cardiac myocytes into pacemaker-like cells. Cardiovasc Res (2012) 1.91
Huntington's disease: degradation of mutant huntingtin by autophagy. FEBS J (2008) 1.89
Azithromycin blocks autophagy and may predispose cystic fibrosis patients to mycobacterial infection. J Clin Invest (2011) 1.89
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med (2011) 1.87
Brain white-matter volume loss and glucose hypometabolism precede the clinical symptoms of Huntington's disease. J Nucl Med (2006) 1.83
Cytoprotective roles for autophagy. Curr Opin Cell Biol (2010) 1.81
The Hedgehog signalling pathway regulates autophagy. Nat Commun (2012) 1.80
Mammalian macroautophagy at a glance. J Cell Sci (2009) 1.78
Myosin heavy chain isoforms in postnatal muscle development of mice. Biol Cell (2003) 1.78
Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. Genomics (2002) 1.75
DAPK1 variants are associated with Alzheimer's disease and allele-specific expression. Hum Mol Genet (2006) 1.73
Regenerative potential of human skeletal muscle during aging. Aging Cell (2002) 1.73
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet (2009) 1.71
Glycogen synthase kinase-3beta inhibitors prevent cellular polyglutamine toxicity caused by the Huntington's disease mutation. J Biol Chem (2002) 1.70
Role of PIN-mediated auxin efflux in apical hook development of Arabidopsis thaliana. Development (2010) 1.69
BMP signaling controls muscle mass. Nat Genet (2013) 1.68
Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3. Brain (2009) 1.66
Reading frame correction by targeted genome editing restores dystrophin expression in cells from Duchenne muscular dystrophy patients. Mol Ther (2013) 1.63
Gateways to the FANTOM5 promoter level mammalian expression atlas. Genome Biol (2015) 1.58
Bim inhibits autophagy by recruiting Beclin 1 to microtubules. Mol Cell (2012) 1.55
Chemotherapy for the brain: the antitumor antibiotic mithramycin prolongs survival in a mouse model of Huntington's disease. J Neurosci (2004) 1.54
AtGA3ox2, a key gene responsible for bioactive gibberellin biosynthesis, is regulated during embryogenesis by LEAFY COTYLEDON2 and FUSCA3 in Arabidopsis. Plant Physiol (2004) 1.52