Published in Brain on July 01, 2002
Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis. Nat Rev Neurol (2011) 2.73
Mitochondrial dysfunction in SOD1G93A-bearing astrocytes promotes motor neuron degeneration: prevention by mitochondrial-targeted antioxidants. J Neurosci (2008) 1.72
Molecular and cellular pathways of neurodegeneration in motor neurone disease. J Neurol Neurosurg Psychiatry (2005) 1.55
ALS-associated mutant SOD1G93A causes mitochondrial vacuolation by expansion of the intermembrane space and by involvement of SOD1 aggregation and peroxisomes. BMC Neurosci (2003) 1.46
Mitochondrial dysfunction and intracellular calcium dysregulation in ALS. Mech Ageing Dev (2010) 1.30
Mutant SOD1 in neuronal mitochondria causes toxicity and mitochondrial dynamics abnormalities. Hum Mol Genet (2009) 1.30
Mitochondrial dysfunction in amyotrophic lateral sclerosis. Biochim Biophys Acta (2009) 1.27
Impairment of mitochondrial calcium handling in a mtSOD1 cell culture model of motoneuron disease. BMC Neurosci (2009) 1.26
SOD1 and mitochondria in ALS: a dangerous liaison. J Bioenerg Biomembr (2011) 1.24
Mitochondrial dysfunction in familial amyotrophic lateral sclerosis. J Bioenerg Biomembr (2011) 1.23
SOD1 targeted to the mitochondrial intermembrane space prevents motor neuropathy in the Sod1 knockout mouse. Brain (2010) 1.21
Mitochondrial proteomic analysis of a cell line model of familial amyotrophic lateral sclerosis. Mol Cell Proteomics (2004) 1.17
Retrograde axonal transport and motor neuron disease. J Neurochem (2008) 1.17
Interaction of amyotrophic lateral sclerosis (ALS)-related mutant copper-zinc superoxide dismutase with the dynein-dynactin complex contributes to inclusion formation. J Biol Chem (2008) 1.16
Mitochondrial function, morphology, and axonal transport in amyotrophic lateral sclerosis. Antioxid Redox Signal (2009) 1.12
Pathways and genes differentially expressed in the motor cortex of patients with sporadic amyotrophic lateral sclerosis. BMC Genomics (2007) 1.09
Mitochondrial degeneration in amyotrophic lateral sclerosis. J Bioenerg Biomembr (2004) 1.02
Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis. Brain (2011) 1.00
Lysyl-tRNA synthetase is a target for mutant SOD1 toxicity in mitochondria. J Biol Chem (2008) 0.98
Mitochondria in neurodegeneration. Adv Exp Med Biol (2012) 0.97
Functional polypeptides can be synthesized from human mitochondrial transcripts lacking termination codons. Biochem J (2004) 0.96
ALS drug development: reflections from the past and a way forward. Neurotherapeutics (2008) 0.96
Glial-derived prodegenerative signaling in the Drosophila neuromuscular system. Neuron (2011) 0.94
A comprehensive review of amyotrophic lateral sclerosis. Surg Neurol Int (2015) 0.93
Impact of mitochondrial inhibition on excitability and cytosolic Ca2+ levels in brainstem motoneurones from mouse. J Physiol (2003) 0.93
Caprylic triglyceride as a novel therapeutic approach to effectively improve the performance and attenuate the symptoms due to the motor neuron loss in ALS disease. PLoS One (2012) 0.93
Role of mitochondria in mutant SOD1 linked amyotrophic lateral sclerosis. Biochim Biophys Acta (2014) 0.92
A new zebrafish model produced by TILLING of SOD1-related amyotrophic lateral sclerosis replicates key features of the disease and represents a tool for in vivo therapeutic screening. Dis Model Mech (2013) 0.92
Measures of bulbar and spinal motor function, muscle innervation, and mitochondrial function in ALS rats. Behav Brain Res (2010) 0.90
SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity. Biochem Biophys Res Commun (2007) 0.90
Differential expression of sirtuins in the aging rat brain. Front Cell Neurosci (2015) 0.87
3-Nitropropionic acid induces autophagy by forming mitochondrial permeability transition pores rather than activating the mitochondrial fission pathway. Br J Pharmacol (2013) 0.87
Redox regulation in amyotrophic lateral sclerosis. Oxid Med Cell Longev (2013) 0.86
An in vitro screening cascade to identify neuroprotective antioxidants in ALS. Free Radic Biol Med (2009) 0.86
Metabolic Dysfunctions in Amyotrophic Lateral Sclerosis Pathogenesis and Potential Metabolic Treatments. Front Neurosci (2017) 0.86
A comparison of in vitro properties of resting SOD1 transgenic microglia reveals evidence of reduced neuroprotective function. BMC Neurosci (2011) 0.85
FUS Interacts with HSP60 to Promote Mitochondrial Damage. PLoS Genet (2015) 0.82
Mitochondrial dysfunction in amyotrophic lateral sclerosis - a valid pharmacological target? Br J Pharmacol (2014) 0.80
Selective vulnerability of motoneuron and perturbed mitochondrial calcium homeostasis in amyotrophic lateral sclerosis: implications for motoneurons specific calcium dysregulation. Mol Cell Ther (2014) 0.80
Mutant SOD1 forms ion channel: implications for ALS pathophysiology. Neurobiol Dis (2011) 0.80
Elimination Rate of Serum Lactate is Correlated with Amyotrophic Lateral Sclerosis Progression. Chin Med J (Engl) (2016) 0.80
The effect of SOD1 mutation on cellular bioenergetic profile and viability in response to oxidative stress and influence of mutation-type. PLoS One (2013) 0.79
Metabolomic Analysis Reveals Increased Aerobic Glycolysis and Amino Acid Deficit in a Cellular Model of Amyotrophic Lateral Sclerosis. Mol Neurobiol (2015) 0.79
Marked synergism between mutant SOD1 and glutamate transport inhibition in the induction of motor neuronal degeneration in spinal cord slice cultures. Brain Res (2012) 0.77
Amyotrophic lateral sclerosis: a focus on disease progression. Biomed Res Int (2014) 0.77
Inactivation of Aconitase by Tetrahydrobiopterin in DArgic Cells: Relevance to PD. Exp Neurobiol (2010) 0.76
Riluzole But Not Melatonin Ameliorates Acute Motor Neuron Degeneration and Moderately Inhibits SOD1-Mediated Excitotoxicity Induced Disrupted Mitochondrial Ca(2+) Signaling in Amyotrophic Lateral Sclerosis. Front Cell Neurosci (2017) 0.75
Macrophage migration inhibitory factor as a component of selective vulnerability of motor neurons in ALS. Rare Dis (2015) 0.75
Enterovirus 71 infection of motor neuron-like NSC-34 cells undergoes a non-lytic exit pathway. Sci Rep (2016) 0.75
Pharmacological Characterization of the Mechanisms Involved in Delayed Calcium Deregulation in SH-SY5Y Cells Challenged with Methadone. Int J Cell Biol (2012) 0.75
ALS Pathogenesis and Therapeutic Approaches: The Role of Mesenchymal Stem Cells and Extracellular Vesicles. Front Cell Neurosci (2017) 0.75
Management of stress and stress-related diseases: Emerging computer-based technologies and the rationale for clinical laboratory assessment. N Am J Med Sci (2009) 0.75
Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS Patients. PLoS One (2016) 0.75
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
PINK1 is selectively stabilized on impaired mitochondria to activate Parkin. PLoS Biol (2010) 11.85
Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet (2009) 10.34
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain. PLoS Genet (2010) 8.74
Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol (2007) 6.58
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet (2006) 6.52
Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am J Hum Genet (2002) 6.02
Kinase activity is required for the toxic effects of mutant LRRK2/dardarin. Neurobiol Dis (2006) 5.96
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization. Proc Natl Acad Sci U S A (2004) 4.76
Prevalence of mitochondrial DNA disease in adults. Ann Neurol (2008) 4.72
Adaptation to culture of human embryonic stem cells and oncogenesis in vivo. Nat Biotechnol (2007) 4.53
Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability. Proc Natl Acad Sci U S A (2005) 4.22
Effects of non-invasive ventilation on survival and quality of life in patients with amyotrophic lateral sclerosis: a randomised controlled trial. Lancet Neurol (2006) 4.17
Mitochondrial DNA mutations in human colonic crypt stem cells. J Clin Invest (2003) 3.84
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. Nature (2010) 3.73
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol (2010) 3.61
Genetics of Parkinson's disease and parkinsonism. Ann Neurol (2006) 3.60
White matter lesions in an unselected cohort of the elderly: molecular pathology suggests origin from chronic hypoperfusion injury. Stroke (2006) 3.27
Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging (2011) 3.27
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain (2006) 3.16
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol (2008) 3.03
DJ-1 acts in parallel to the PINK1/parkin pathway to control mitochondrial function and autophagy. Hum Mol Genet (2010) 3.00
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet (2011) 2.97
Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Res (2002) 2.88
Leucine-rich repeat kinase 2 mutations and Parkinson's disease: three questions. ASN Neuro (2009) 2.85
The Parkinson disease-associated leucine-rich repeat kinase 2 (LRRK2) is a dimer that undergoes intramolecular autophosphorylation. J Biol Chem (2008) 2.77
RNA binding activity of the recessive parkinsonism protein DJ-1 supports involvement in multiple cellular pathways. Proc Natl Acad Sci U S A (2008) 2.76
Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis. Nat Rev Neurol (2011) 2.73
What causes mitochondrial DNA deletions in human cells? Nat Genet (2008) 2.70
Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons. Neuron (2002) 2.65
Alpha-synuclein implicated in Parkinson's disease is present in extracellular biological fluids, including human plasma. FASEB J (2003) 2.64
Cytoplasmic Pink1 activity protects neurons from dopaminergic neurotoxin MPTP. Proc Natl Acad Sci U S A (2008) 2.64
Distinct DNA methylation changes highly correlated with chronological age in the human brain. Hum Mol Genet (2011) 2.62
Biochemical assays of respiratory chain complex activity. Methods Cell Biol (2007) 2.56
An in vitro model of Parkinson's disease: linking mitochondrial impairment to altered alpha-synuclein metabolism and oxidative damage. J Neurosci (2002) 2.54
Controversies and priorities in amyotrophic lateral sclerosis. Lancet Neurol (2013) 2.52
Safety and efficacy of diaphragm pacing in patients with respiratory insufficiency due to amyotrophic lateral sclerosis (DiPALS): a multicentre, open-label, randomised controlled trial. Lancet Neurol (2015) 2.51
The R1441C mutation of LRRK2 disrupts GTP hydrolysis. Biochem Biophys Res Commun (2007) 2.42
Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission. Proc Natl Acad Sci U S A (2006) 2.42
The epidemiology of mitochondrial disorders--past, present and future. Biochim Biophys Acta (2004) 2.41
Mechanisms of field cancerization in the human stomach: the expansion and spread of mutated gastric stem cells. Gastroenterology (2007) 2.39
Universal heteroplasmy of human mitochondrial DNA. Hum Mol Genet (2012) 2.39
Pink1 forms a multiprotein complex with Miro and Milton, linking Pink1 function to mitochondrial trafficking. Biochemistry (2009) 2.38
Structure of the ROC domain from the Parkinson's disease-associated leucine-rich repeat kinase 2 reveals a dimeric GTPase. Proc Natl Acad Sci U S A (2008) 2.36
Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts. Ann Neurol (2008) 2.34
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain (2012) 2.28
Motor neurone disease: a practical update on diagnosis and management. Clin Med (2010) 2.24
Mitochondrial DNA mutations and human disease. Biochim Biophys Acta (2009) 2.24
Mitochondrial alterations in PINK1 deficient cells are influenced by calcineurin-dependent dephosphorylation of dynamin-related protein 1. PLoS One (2009) 2.23
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann Neurol (2009) 2.21
Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features. Hum Pathol (2013) 2.18
The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease. Brain (2003) 2.17
A neurological perspective on mitochondrial disease. Lancet Neurol (2010) 2.16
A soluble α-synuclein construct forms a dynamic tetramer. Proc Natl Acad Sci U S A (2011) 2.15
L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system. J Biol Chem (2003) 2.12
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet (2007) 2.09
Evidence for natural antisense transcript-mediated inhibition of microRNA function. Genome Biol (2010) 2.08
Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy. Sci Transl Med (2010) 2.02
The use of non-invasive ventilation at end of life in patients with motor neurone disease: a qualitative exploration of family carer and health professional experiences. Palliat Med (2013) 2.00
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet (2006) 1.99
Treatment for mitochondrial disorders. Cochrane Database Syst Rev (2012) 1.94
The chaperone activity of heat shock protein 90 is critical for maintaining the stability of leucine-rich repeat kinase 2. J Neurosci (2008) 1.86
Mitochondrial DNA and survival after sepsis: a prospective study. Lancet (2005) 1.85
Intersecting pathways to neurodegeneration in Parkinson's disease: effects of the pesticide rotenone on DJ-1, alpha-synuclein, and the ubiquitin-proteasome system. Neurobiol Dis (2006) 1.83
Oxidative stress in ALS: key role in motor neuron injury and therapeutic target. Free Radic Biol Med (2009) 1.82
Mitochondrial changes within axons in multiple sclerosis. Brain (2009) 1.81
Mitochondrial DNA and disease. J Pathol (2011) 1.81
Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough. Trends Genet (2004) 1.76
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol (2015) 1.75
Mitochondrial morphology, topology, and membrane interactions in skeletal muscle: a quantitative three-dimensional electron microscopy study. J Appl Physiol (1985) (2012) 1.74
Oxidative stress in ALS: a mechanism of neurodegeneration and a therapeutic target. Biochim Biophys Acta (2006) 1.73
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. J Clin Invest (2004) 1.71
Formation of a stabilized cysteine sulfinic acid is critical for the mitochondrial function of the parkinsonism protein DJ-1. J Biol Chem (2009) 1.71
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet (2012) 1.71
Mutations in LRRK2/dardarin associated with Parkinson disease are more toxic than equivalent mutations in the homologous kinase LRRK1. J Neurochem (2007) 1.70
Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease. FEBS J (2008) 1.68
Evolutionary and functional relationships within the DJ1 superfamily. BMC Evol Biol (2004) 1.67
Resistance training in patients with single, large-scale deletions of mitochondrial DNA. Brain (2008) 1.67
The Parkinson's disease kinase LRRK2 autophosphorylates its GTPase domain at multiple sites. Biochem Biophys Res Commun (2009) 1.67
Microarray analysis of the cellular pathways involved in the adaptation to and progression of motor neuron injury in the SOD1 G93A mouse model of familial ALS. J Neurosci (2007) 1.65
Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism? Lancet (2002) 1.65
Mitochondria and dopamine: new insights into recessive parkinsonism. Neuron (2004) 1.64
Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. Cell Metab (2006) 1.62