Published in J Vis Exp on April 27, 2011
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport. Nature (2015) 1.77
VCP is essential for mitochondrial quality control by PINK1/Parkin and this function is impaired by VCP mutations. Neuron (2013) 1.70
Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. Exp Mol Med (2013) 1.04
Odd-skipped labels a group of distinct neurons associated with the mushroom body and optic lobe in the adult Drosophila brain. J Comp Neurol (2013) 0.80
Suppression of C9orf72 RNA repeat-induced neurotoxicity by the ALS-associated RNA-binding protein Zfp106. Elife (2017) 0.75
A New Fiji-Based Algorithm That Systematically Quantifies Nine Synaptic Parameters Provides Insights into Drosophila NMJ Morphometry. PLoS Comput Biol (2016) 0.75
Bruchpilot promotes active zone assembly, Ca2+ channel clustering, and vesicle release. Science (2006) 5.39
Bruchpilot, a protein with homology to ELKS/CAST, is required for structural integrity and function of synaptic active zones in Drosophila. Neuron (2006) 5.16
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet (2009) 2.41
Maturation of active zone assembly by Drosophila Bruchpilot. J Cell Biol (2009) 2.34
Single-cell analysis of Drosophila larval neuromuscular synapses. Dev Biol (2001) 1.67
Orchestrating development and function: retrograde BMP signaling in the Drosophila nervous system. Trends Neurosci (2004) 1.42
Drosophila larval neuromuscular junction: molecular components and mechanisms underlying synaptic plasticity. Microsc Res Tech (2000) 1.37
Flightless flies: Drosophila models of neuromuscular disease. Ann N Y Acad Sci (2010) 1.28
Synapse maturation and structural plasticity at Drosophila neuromuscular junctions. Curr Opin Neurobiol (1996) 1.26
A Drosophila model of ALS: human ALS-associated mutation in VAP33A suggests a dominant negative mechanism. PLoS One (2008) 1.24
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
Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron (2010) 7.87
HDAC6 rescues neurodegeneration and provides an essential link between autophagy and the UPS. Nature (2007) 7.74
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature (2013) 4.03
HDAC6 controls autophagosome maturation essential for ubiquitin-selective quality-control autophagy. EMBO J (2010) 3.90
Disease-causing mutations in parkin impair mitochondrial ubiquitination, aggregation, and HDAC6-dependent mitophagy. J Cell Biol (2010) 3.37
VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD. Autophagy (2010) 2.99
TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. J Neuropathol Exp Neurol (2007) 2.97
CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome. Neuron (2013) 2.94
Altered ribostasis: RNA-protein granules in degenerative disorders. Cell (2013) 2.38
Repeat expansion disease: progress and puzzles in disease pathogenesis. Nat Rev Genet (2010) 2.36
Global analysis of TDP-43 interacting proteins reveals strong association with RNA splicing and translation machinery. J Proteome Res (2010) 2.35
Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann Neurol (2003) 2.28
Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy. Neuron (2009) 2.26
TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97. J Neurosci (2010) 2.05
Eukaryotic stress granules are cleared by autophagy and Cdc48/VCP function. Cell (2013) 1.88
Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy. Neuron (2010) 1.75
Autophagy and the ubiquitin-proteasome system: collaborators in neuroprotection. Biochim Biophys Acta (2008) 1.73
VCP is essential for mitochondrial quality control by PINK1/Parkin and this function is impaired by VCP mutations. Neuron (2013) 1.70
Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone. Hum Mol Genet (2010) 1.64
HDAC6 at the intersection of autophagy, the ubiquitin-proteasome system and neurodegeneration. Autophagy (2007) 1.62
Sarcoplasmic redistribution of nuclear TDP-43 in inclusion body myositis. Muscle Nerve (2009) 1.57
A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43. Hum Mol Genet (2011) 1.47
Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity. J Neurosci (2012) 1.32
Flightless flies: Drosophila models of neuromuscular disease. Ann N Y Acad Sci (2010) 1.28
Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation. Hum Mol Genet (2009) 1.27
Polyglutamines placed into context. Neuron (2003) 1.21
Rescue of polyglutamine-mediated cytotoxicity by double-stranded RNA-mediated RNA interference. Hum Mol Genet (2002) 1.21
The role of autophagy in age-related neurodegeneration. Neurosignals (2007) 1.21
FOXO3a is broadly neuroprotective in vitro and in vivo against insults implicated in motor neuron diseases. J Neurosci (2009) 1.15
Hsp70 dynamics in vivo: effect of heat shock and protein aggregation. J Cell Sci (2004) 1.13
Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome. PLoS Genet (2010) 1.11
A screen for drugs that protect against the cytotoxicity of polyglutamine-expanded androgen receptor. Hum Mol Genet (2004) 1.10
Polyglutamine-expanded androgen receptor truncation fragments activate a Bax-dependent apoptotic cascade mediated by DP5/Hrk. J Neurosci (2009) 1.10
Motor neuron involvement in multisystem proteinopathy: implications for ALS. Neurology (2013) 1.08
Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy. Acta Neuropathol (2007) 1.06
Selective accumulation of aggregation-prone proteasome substrates in response to proteotoxic stress. Mol Cell Biol (2009) 1.05
Dynein light chain 1 is required for autophagy, protein clearance, and cell death in Drosophila. Proc Natl Acad Sci U S A (2009) 1.00
Mutational analysis of the VCP gene in Parkinson's disease. Neurobiol Aging (2011) 0.93
Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia. Arch Neurol (2007) 0.92
B2 attenuates polyglutamine-expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy. J Neurosci Res (2010) 0.85
Archetypal and new families with Alexander disease and novel mutations in GFAP. Arch Neurol (2011) 0.82
RNA-binding proteins in neurological disease. Brain Res (2012) 0.78
A novel conserved isoform of the ubiquitin ligase UFD2a/UBE4B is expressed exclusively in mature striated muscle cells. PLoS One (2011) 0.77
A case of familial ALS due to multi-system proteinopathy 1 and Huntington disease. Amyotroph Lateral Scler Frontotemporal Degener (2014) 0.77
Huntingtin fragments and SOD1 mutants form soluble oligomers in the cell. PLoS One (2012) 0.76