Published in Proc Natl Acad Sci U S A on August 24, 2010
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Overexpression of ALS-associated p.M337V human TDP-43 in mice worsens disease features compared to wild-type human TDP-43 mice. Mol Neurobiol (2013) 0.98
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Neurotoxic 43-kDa TAR DNA-binding protein (TDP-43) triggers mitochondrion-dependent programmed cell death in yeast. J Biol Chem (2011) 0.93
Slow development of ALS-like spinal cord pathology in mutant valosin-containing protein gene knock-in mice. Cell Death Dis (2012) 0.92
The wobbler mouse, an ALS animal model. Mol Genet Genomics (2013) 0.92
Premature death of TDP-43 (A315T) transgenic mice due to gastrointestinal complications prior to development of full neurological symptoms of amyotrophic lateral sclerosis. Int J Exp Pathol (2013) 0.92
RAGE deficiency improves postinjury sciatic nerve regeneration in type 1 diabetic mice. Diabetes (2012) 0.89
Systemic dysregulation of TDP-43 binding microRNAs in amyotrophic lateral sclerosis. Acta Neuropathol Commun (2013) 0.89
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U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish. Nucleic Acids Res (2015) 0.88
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Astrocytic TDP-43 pathology in Alexander disease. J Neurosci (2014) 0.85
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Linking RNA Dysfunction and Neurodegeneration in Amyotrophic Lateral Sclerosis. Neurotherapeutics (2015) 0.83
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FUS Interacts with HSP60 to Promote Mitochondrial Damage. PLoS Genet (2015) 0.82
Oxidative stress and mitochondrial damage: importance in non-SOD1 ALS. Front Cell Neurosci (2015) 0.82
Presynaptic localization of Smn and hnRNP R in axon terminals of embryonic and postnatal mouse motoneurons. PLoS One (2014) 0.81
Motor-Coordinative and Cognitive Dysfunction Caused by Mutant TDP-43 Could Be Reversed by Inhibiting Its Mitochondrial Localization. Mol Ther (2017) 0.81
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Reducing TDP-43 aggregation does not prevent its cytotoxicity. Acta Neuropathol Commun (2013) 0.80
Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS. Acta Neuropathol Commun (2015) 0.79
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Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts. Acta Neuropathol Commun (2016) 0.78
RNA-processing protein TDP-43 regulates FOXO-dependent protein quality control in stress response. PLoS Genet (2014) 0.78
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Dysregulated axonal RNA translation in amyotrophic lateral sclerosis. Wiley Interdiscip Rev RNA (2016) 0.77
A network of RNA and protein interactions in Fronto Temporal Dementia. Front Mol Neurosci (2015) 0.77
ALS Patient Stem Cells for Unveiling Disease Signatures of Motoneuron Susceptibility: Perspectives on the Deadly Mitochondria, ER Stress and Calcium Triad. Front Cell Neurosci (2015) 0.77
Quantification of the Relative Contributions of Loss-of-function and Gain-of-function Mechanisms in TAR DNA-binding Protein 43 (TDP-43) Proteinopathies. J Biol Chem (2016) 0.76
Nuclear localization of SMN and FUS is not altered in fibroblasts from patients with sporadic ALS. Amyotroph Lateral Scler Frontotemporal Degener (2014) 0.76
Impaired Autophagy and Defective Mitochondrial Function: Converging Paths on the Road to Motor Neuron Degeneration. Front Cell Neurosci (2016) 0.76
Nuclear TAR DNA-binding protein 43: A new target for amyotrophic lateral sclerosis treatment. Neural Regen Res (2013) 0.76
Amyotrophic Lateral Sclerosis and Metabolomics: Clinical Implication and Therapeutic Approach. J Biomark (2013) 0.76
Acetylation-induced TDP-43 pathology is suppressed by an HSF1-dependent chaperone program. Nat Commun (2017) 0.75
Transporting mitochondria in neurons. F1000Res (2016) 0.75
Cytoplasmic mislocalization of RNA splicing factors and aberrant neuronal gene splicing in TDP-43 transgenic pig brain. Mol Neurodegener (2015) 0.75
Energy Homeostasis and Abnormal RNA Metabolism in Amyotrophic Lateral Sclerosis. Front Cell Neurosci (2017) 0.75
Energy expenditure in frontotemporal dementia: a behavioural and imaging study. Brain (2016) 0.75
Monoubiquitination of survival motor neuron regulates its cellular localization and Cajal body integrity. Hum Mol Genet (2016) 0.75
Stress granules at the intersection of autophagy and ALS. Brain Res (2016) 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
TDP-43 stabilises the processing intermediates of mitochondrial transcripts. Sci Rep (2017) 0.75
Cognition and eating behavior in amyotrophic lateral sclerosis: effect on survival. J Neurol (2016) 0.75
RNA-binding proteins in neurodegeneration: mechanisms in aggregate. Genes Dev (2017) 0.75
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Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science (2006) 27.96
Identification and characterization of a spinal muscular atrophy-determining gene. Cell (1995) 17.41
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science (2008) 14.09
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science (2009) 13.45
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science (2009) 12.99
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet (2008) 9.51
Alternative pre-mRNA splicing and proteome expansion in metazoans. Nature (2002) 7.60
Unraveling the mechanisms involved in motor neuron degeneration in ALS. Annu Rev Neurosci (2004) 6.99
Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO J (2001) 5.23
Rethinking ALS: the FUS about TDP-43. Cell (2009) 4.71
SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing. Cell (2008) 4.54
TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration. Proc Natl Acad Sci U S A (2009) 4.18
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A yeast TDP-43 proteinopathy model: Exploring the molecular determinants of TDP-43 aggregation and cellular toxicity. Proc Natl Acad Sci U S A (2008) 3.46
TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration. Proc Natl Acad Sci U S A (2010) 3.39
Toxicity of familial ALS-linked SOD1 mutants from selective recruitment to spinal mitochondria. Neuron (2004) 2.94
TDP43 is a human low molecular weight neurofilament (hNFL) mRNA-binding protein. Mol Cell Neurosci (2007) 2.75
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Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. J Neurosci (2009) 2.71
Imaging axonal transport of mitochondria in vivo. Nat Methods (2007) 2.60
Depletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene. Nucleic Acids Res (2005) 2.55
TDP-43 is a developmentally regulated protein essential for early embryonic development. J Biol Chem (2009) 2.40
Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6. EMBO J (2009) 2.37
A Drosophila model for TDP-43 proteinopathy. Proc Natl Acad Sci U S A (2010) 2.36
TDP-43, a neuro-pathosignature factor, is essential for early mouse embryogenesis. Genesis (2010) 2.31
Deletion of TDP-43 down-regulates Tbc1d1, a gene linked to obesity, and alters body fat metabolism. Proc Natl Acad Sci U S A (2010) 2.05
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2009) 2.03
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TDP-43 overexpression enhances exon 7 inclusion during the survival of motor neuron pre-mRNA splicing. J Biol Chem (2008) 1.98
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Transgenic rat model of neurodegeneration caused by mutation in the TDP gene. PLoS Genet (2010) 1.81
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BACE1, a major determinant of selective vulnerability of the brain to amyloid-beta amyloidogenesis, is essential for cognitive, emotional, and synaptic functions. J Neurosci (2005) 3.23
Mutant SOD1 causes motor neuron disease independent of copper chaperone-mediated copper loading. Nat Neurosci (2002) 3.09
Toxicity of familial ALS-linked SOD1 mutants from selective recruitment to spinal mitochondria. Neuron (2004) 2.94
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Parkinson's disease alpha-synuclein transgenic mice develop neuronal mitochondrial degeneration and cell death. J Neurosci (2006) 2.85
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Aggregation promoting C-terminal truncation of alpha-synuclein is a normal cellular process and is enhanced by the familial Parkinson's disease-linked mutations. Proc Natl Acad Sci U S A (2005) 2.45
Moderate reduction of gamma-secretase attenuates amyloid burden and limits mechanism-based liabilities. J Neurosci (2007) 2.31
Episodic-like memory deficits in the APPswe/PS1dE9 mouse model of Alzheimer's disease: relationships to beta-amyloid deposition and neurotransmitter abnormalities. Neurobiol Dis (2005) 2.22
Deletion of TDP-43 down-regulates Tbc1d1, a gene linked to obesity, and alters body fat metabolism. Proc Natl Acad Sci U S A (2010) 2.05
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Glu(332) in the Nicastrin ectodomain is essential for gamma-secretase complex maturation but not for its activity. J Biol Chem (2008) 1.65
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Nicastrin is required for assembly of presenilin/gamma-secretase complexes to mediate Notch signaling and for processing and trafficking of beta-amyloid precursor protein in mammals. J Neurosci (2003) 1.58
An overview of APP processing enzymes and products. Neuromolecular Med (2010) 1.54
Arc/Arg3.1 regulates an endosomal pathway essential for activity-dependent β-amyloid generation. Cell (2011) 1.52
Motor neuron disease occurring in a mutant dynactin mouse model is characterized by defects in vesicular trafficking. J Neurosci (2008) 1.45
Amyloid pathology is associated with progressive monoaminergic neurodegeneration in a transgenic mouse model of Alzheimer's disease. J Neurosci (2008) 1.44
Loss of ALS2 function is insufficient to trigger motor neuron degeneration in knock-out mice but predisposes neurons to oxidative stress. J Neurosci (2005) 1.43
Disruption of corticocortical connections ameliorates amyloid burden in terminal fields in a transgenic model of Abeta amyloidosis. J Neurosci (2002) 1.41
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Messenger RNA oxidation occurs early in disease pathogenesis and promotes motor neuron degeneration in ALS. PLoS One (2008) 1.34
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BACE1 inhibition reduces endogenous Abeta and alters APP processing in wild-type mice. J Neurochem (2006) 1.27
APH-1a is the principal mammalian APH-1 isoform present in gamma-secretase complexes during embryonic development. J Neurosci (2005) 1.26
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Progressive behavioral deficits in DJ-1-deficient mice are associated with normal nigrostriatal function. Neurobiol Dis (2007) 1.24
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Axonal transport of human alpha-synuclein slows with aging but is not affected by familial Parkinson's disease-linked mutations. J Neurochem (2004) 1.15
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Amyotrophic lateral sclerosis 2-deficiency leads to neuronal degeneration in amyotrophic lateral sclerosis through altered AMPA receptor trafficking. J Neurosci (2006) 1.13
S-palmitoylation of gamma-secretase subunits nicastrin and APH-1. J Biol Chem (2008) 1.09
High molecular weight neurofilament proteins are physiological substrates of adduction by the lipid peroxidation product hydroxynonenal. J Biol Chem (2001) 1.07
Reduced BACE1 activity enhances clearance of myelin debris and regeneration of axons in the injured peripheral nervous system. J Neurosci (2011) 1.06
Early events of target deprivation/axotomy-induced neuronal apoptosis in vivo: oxidative stress, DNA damage, p53 phosphorylation and subcellular redistribution of death proteins. J Neurochem (2003) 1.05
Long course hyperbaric oxygen stimulates neurogenesis and attenuates inflammation after ischemic stroke. Mediators Inflamm (2013) 0.99
Normal cognitive behavior in two distinct congenic lines of transgenic mice hyperexpressing mutant APP SWE. Neurobiol Dis (2003) 0.99
APH1 polar transmembrane residues regulate the assembly and activity of presenilin complexes. J Biol Chem (2009) 0.94
The beta-amyloid-related proteins presenilin 1 and BACE1 are axonally transported to nerve terminals in the brain. Exp Neurol (2003) 0.94
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Single chain variable fragment against nicastrin inhibits the gamma-secretase activity. J Biol Chem (2009) 0.87
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Modeling an anti-amyloid combination therapy for Alzheimer's disease. Sci Transl Med (2010) 0.87
Mossy fiber long-term potentiation deficits in BACE1 knock-outs can be rescued by activation of alpha7 nicotinic acetylcholine receptors. J Neurosci (2010) 0.84
Altered astrocytic expression of TDP-43 does not influence motor neuron survival. Exp Neurol (2013) 0.83
Specific domains in anterior pharynx-defective 1 determine its intramembrane interactions with nicastrin and presenilin. Neurobiol Aging (2010) 0.82
The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes. J Neural Transm (Vienna) (2012) 0.81
Expression of stabilized beta-catenin in differentiated neurons of transgenic mice does not result in tumor formation. BMC Cancer (2002) 0.81
Increased expression of PS1 is sufficient to elevate the level and activity of γ-secretase in vivo. PLoS One (2011) 0.79
Disseminated tuberculosis presenting as multiple hepatosplenic microabscesses and pancytopenia in a teenage boy. J Formos Med Assoc (2004) 0.78
Accumulation of proteolytic fragments of mutant presenilin 1 and accelerated amyloid deposition are co-regulated in transgenic mice. Neurobiol Aging (2002) 0.78
Passive (amyloid-β) immunotherapy attenuates monoaminergic axonal degeneration in the AβPPswe/PS1dE9 mice. J Alzheimers Dis (2011) 0.78
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