Published in Hum Mol Genet on February 23, 2010
Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy. Ann Neurol (2011) 1.31
Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophy. Brain Pathol (2010) 1.27
Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis. Brain Pathol (2010) 1.20
Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy. Antioxid Redox Signal (2011) 0.90
Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy. Brain (2013) 0.89
HDAC inhibitor SAHA normalizes the levels of VLCFAs in human skin fibroblasts from X-ALD patients and downregulates the expression of proinflammatory cytokines in Abcd1/2-silenced mouse astrocytes. J Lipid Res (2011) 0.89
X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism is severely impaired in monocytes but not in lymphocytes. Hum Mol Genet (2013) 0.84
Histone deacetylase inhibitor upregulates peroxisomal fatty acid oxidation and inhibits apoptotic cell death in abcd1-deficient glial cells. PLoS One (2013) 0.83
Glutathione imbalance in patients with X-linked adrenoleukodystrophy. Mol Genet Metab (2013) 0.81
Induction of mitochondrial changes associated with oxidative stress on very long chain fatty acids (C22:0, C24:0, or C26:0)-treated human neuronal cells (SK-NB-E). Oxid Med Cell Longev (2012) 0.80
ABCD1 deletion-induced mitochondrial dysfunction is corrected by SAHA: implication for adrenoleukodystrophy. J Neurochem (2015) 0.79
Caffeic acid phenethyl ester induces adrenoleukodystrophy (Abcd2) gene in human X-ALD fibroblasts and inhibits the proinflammatory response in Abcd1/2 silenced mouse primary astrocytes. Biochim Biophys Acta (2013) 0.77
Nephroprotective activities of quercetin with potential relevance to oxidative stress induced by valproic acid. Protoplasma (2014) 0.77
Activation of sirtuin 1 as therapy for the peroxisomal disease adrenoleukodystrophy. Cell Death Differ (2015) 0.76
Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy. Acta Neuropathol (2014) 0.75
ABCD2 alters peroxisome proliferator-activated receptor α signaling in vitro, but does not impair responses to fenofibrate therapy in a mouse model of diet-induced obesity. Mol Pharmacol (2014) 0.75
Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy. Acta Neuropathol (2016) 0.75
Effectiveness of valproate for the treatment of manic-like behavior in X-linked adrenoleukodystrophy. Neurol Sci (2011) 0.75
Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders. J Clin Med (2017) 0.75
Oxidative Stress in Patients with X-Linked Adrenoleukodystrophy. Cell Mol Neurobiol (2015) 0.75
Histone deacetylases (HDACs): characterization of the classical HDAC family. Biochem J (2003) 11.27
Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science (2009) 8.80
Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia. Nature (2010) 6.95
Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet (2001) 4.50
Life and death: metabolic rate, membrane composition, and life span of animals. Physiol Rev (2007) 3.05
CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein. Neuron (2003) 2.92
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet (2004) 2.75
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2011) 2.69
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science (2008) 2.51
A signalling role for 4-hydroxy-2-nonenal in regulation of mitochondrial uncoupling. EMBO J (2003) 2.43
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis (2012) 2.28
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med (2002) 2.26
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. Cell Metab (2010) 2.21
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. Brain (2014) 2.16
Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6. Neurobiol Dis (2006) 1.96
hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1. Hum Mol Genet (2002) 1.84
SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. Hum Mol Genet (2010) 1.80
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. J Inherit Metab Dis (2012) 1.71
X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects. Biochim Biophys Acta (2012) 1.70
PLS3 mutations in X-linked osteoporosis with fractures. N Engl J Med (2013) 1.66
Small interfering RNA-mediated xCT silencing in gliomas inhibits neurodegeneration and alleviates brain edema. Nat Med (2008) 1.66
Mitochondrial DNA mutations induce mitochondrial dysfunction, apoptosis and sarcopenia in skeletal muscle of mitochondrial DNA mutator mice. PLoS One (2010) 1.57
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet (2012) 1.57
Pathological aspects of lipid peroxidation. Free Radic Res (2010) 1.56
Hematopoietic stem cell transplantation and hematopoietic stem cell gene therapy in X-linked adrenoleukodystrophy. Brain Pathol (2010) 1.56
Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice. Hum Gene Ther (2012) 1.55
Oxidative and endoplasmic reticulum stress interplay in sporadic amyotrophic lateral sclerosis. Brain (2007) 1.52
Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1. Hum Genet (2003) 1.52
Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid. Mol Genet Metab (2004) 1.50
In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Ann Neurol (2006) 1.48
In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy. J Neurochem (2006) 1.48
General aspects and neuropathology of X-linked adrenoleukodystrophy. Brain Pathol (2010) 1.41
Is the mitochondrial free radical theory of aging intact? Antioxid Redox Signal (2006) 1.40
Common mutations of beta-catenin in adamantinomatous craniopharyngiomas but not in other tumours originating from the sellar region. Acta Neuropathol (2005) 1.39
The evolutionary origin of peroxisomes: an ER-peroxisome connection. Mol Biol Evol (2006) 1.39
[Study investigating the activity of several fluoroquinolones against Pseudomonas aeruginosa using the mutant prevention concentration]. Enferm Infecc Microbiol Clin (2006) 1.39
Expression of the yeast NADH dehydrogenase Ndi1 in Drosophila confers increased lifespan independently of dietary restriction. Proc Natl Acad Sci U S A (2010) 1.37
Membrane fatty acid unsaturation, protection against oxidative stress, and maximum life span: a homeoviscous-longevity adaptation? Ann N Y Acad Sci (2002) 1.36
Histone deacetylase inhibitors: possible implications for neurodegenerative disorders. Expert Opin Investig Drugs (2008) 1.36
Methionine restriction decreases mitochondrial oxygen radical generation and leak as well as oxidative damage to mitochondrial DNA and proteins. FASEB J (2006) 1.35
Suberoylanilide hydroxamic acid (SAHA) has potent anti-glioma properties in vitro, ex vivo and in vivo. J Neurochem (2005) 1.35
Biochemical aspects of X-linked adrenoleukodystrophy. Brain Pathol (2010) 1.34
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet (2008) 1.34
MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. J Pediatr (2003) 1.33
Protein targets of oxidative damage in human neurodegenerative diseases with abnormal protein aggregates. Brain Pathol (2009) 1.33
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. Am J Hum Genet (2013) 1.32
Reversible molecular pathology of skeletal muscle in spinal muscular atrophy. Hum Mol Genet (2011) 1.32
Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy. Ann Neurol (2011) 1.31
Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry. Mol Genet Metab (2003) 1.28
Human CD34+ cells differentiate into microglia and express recombinant therapeutic protein. Proc Natl Acad Sci U S A (2004) 1.28
Hyperglycemia and glycation in diabetic complications. Antioxid Redox Signal (2009) 1.28
Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy. Hum Mol Genet (2008) 1.27
Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophy. Brain Pathol (2010) 1.27
The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells. Hum Genet (2006) 1.27
The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy. EMBO Mol Med (2010) 1.26
Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition. Hum Mol Genet (2008) 1.26
An approximately 140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival. Genome Res (2006) 1.25
PeroxisomeDB 2.0: an integrative view of the global peroxisomal metabolome. Nucleic Acids Res (2009) 1.24
Proteins in human brain cortex are modified by oxidation, glycoxidation, and lipoxidation. Effects of Alzheimer disease and identification of lipoxidation targets. J Biol Chem (2005) 1.24
Adeno-associated virus gene therapy with cholesterol 24-hydroxylase reduces the amyloid pathology before or after the onset of amyloid plaques in mouse models of Alzheimer's disease. Mol Ther (2009) 1.23
Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy. Hum Mol Genet (2004) 1.23
Bioinformatic clonality analysis of next-generation sequencing-derived viral vector integration sites. Hum Gene Ther Methods (2012) 1.21
Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy. Hum Mol Genet (2002) 1.21
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J Clin Invest (2010) 1.21
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Hum Mol Genet (2009) 1.21
LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate. Hum Mol Genet (2009) 1.21
rAAV human trial experience. Methods Mol Biol (2011) 1.21
Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis. Brain Pathol (2010) 1.20
Histone deacetylase inhibitors increase neuronal differentiation in adult forebrain precursor cells. Exp Brain Res (2007) 1.19
Spinal muscular atrophy: from gene to therapy. Semin Pediatr Neurol (2006) 1.19
Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing. Hum Mol Genet (2010) 1.19
Oxidative damage and phospholipid fatty acyl composition in skeletal muscle mitochondria from mice underexpressing or overexpressing uncoupling protein 3. Biochem J (2002) 1.18