Published in Mol Genet Metab on December 14, 2011
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases. J Inherit Metab Dis (2012) 1.66
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model. Brain (2013) 1.54
Iron metabolism in the CNS: implications for neurodegenerative diseases. Nat Rev Neurosci (2013) 1.46
Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA). Curr Neuropharmacol (2013) 1.20
Hallervorden-Spatz disease. Adv Biomed Res (2014) 1.07
A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome. Cell Rep (2015) 0.98
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model. Hum Mol Genet (2012) 0.97
Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories. Neuropathol Appl Neurobiol (2015) 0.96
Stable isotope dilution liquid chromatography/mass spectrometry analysis of cellular and tissue medium- and long-chain acyl-coenzyme A thioesters. Rapid Commun Mass Spectrom (2014) 0.91
Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients. Neurobiol Dis (2015) 0.91
Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron. J Inherit Metab Dis (2014) 0.81
Late onset atypical pantothenate-kinase-associated neurodegeneration. Case Rep Neurol Med (2013) 0.81
Biometals in rare neurodegenerative disorders of childhood. Front Aging Neurosci (2013) 0.81
Induction of Neuron-Specific Degradation of Coenzyme A Models Pantothenate Kinase-Associated Neurodegeneration by Reducing Motor Coordination in Mice. PLoS One (2015) 0.78
Down-regulation of coasy, the gene associated with NBIA-VI, reduces Bmp signaling, perturbs dorso-ventral patterning and alters neuronal development in zebrafish. Sci Rep (2016) 0.75
A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration. Int J Mol Cell Med (2016) 0.75
Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation. Rare Dis (2016) 0.75
Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism. Microb Cell (2015) 0.75
Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus. Mol Genet Metab (2015) 0.75
MIF/CD74 axis is a target for novel therapies in colon carcinomatosis. J Exp Clin Cancer Res (2017) 0.75
Liver X receptors constrain tumor development and metastasis dissemination in PTEN-deficient prostate cancer. Nat Commun (2017) 0.75
Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy. Proc Natl Acad Sci U S A (2017) 0.75
Metabolite profiles and the risk of developing diabetes. Nat Med (2011) 12.22
Targeting bile-acid signalling for metabolic diseases. Nat Rev Drug Discov (2008) 4.43
Bile acids: regulation of synthesis. J Lipid Res (2009) 4.31
Quantitative trait Loci analysis using the false discovery rate. Genetics (2005) 3.69
Thematic review series: brain Lipids. Cholesterol metabolism in the central nervous system during early development and in the mature animal. J Lipid Res (2004) 3.30
Lipid profiling identifies a triacylglycerol signature of insulin resistance and improves diabetes prediction in humans. J Clin Invest (2011) 3.23
Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet (2008) 3.08
Complete reconstitution of the human coenzyme A biosynthetic pathway via comparative genomics. J Biol Chem (2002) 2.73
Brain cholesterol: long secret life behind a barrier. Arterioscler Thromb Vasc Biol (2004) 2.57
T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology (2008) 2.38
Metabolic signatures of exercise in human plasma. Sci Transl Med (2010) 1.99
Dysfunction of the cholesterol biosynthetic pathway in Huntington's disease. J Neurosci (2005) 1.68
An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria. Hum Mol Genet (2003) 1.59
Mitochondrial disease criteria: diagnostic applications in children. Neurology (2006) 1.58
Bile acids: chemistry, physiology, and pathophysiology. World J Gastroenterol (2009) 1.51
Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2. J Neurosci (2005) 1.44
Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia. Hum Mol Genet (2004) 1.44
A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells. Proc Natl Acad Sci U S A (2010) 1.43
Sphingomyelin metabolism at the plasma membrane: implications for bioactive sphingolipids. FEBS Lett (2009) 1.43
Serum lathosterol concentration is an indicator of whole-body cholesterol synthesis in humans. J Lipid Res (1988) 1.37
Cholesterol involvement in the pathogenesis of neurodegenerative diseases. Mol Cell Neurosci (2009) 1.35
Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). Dev Med Child Neurol (2011) 1.30
Nicotine, its metabolism and an overview of its biological effects. Toxicon (2004) 1.23
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. J Med Genet (2008) 1.16
Plasma 24S-hydroxycholesterol and caudate MRI in pre-manifest and early Huntington's disease. Brain (2008) 1.16
Cholesterol defect is marked across multiple rodent models of Huntington's disease and is manifest in astrocytes. J Neurosci (2010) 1.15
De novo CoA biosynthesis is required to maintain DNA integrity during development of the Drosophila nervous system. Hum Mol Genet (2008) 1.14
Bile acid synthesis from cholesterol: regulatory and auxiliary pathways. FASEB J (1994) 1.09
Progressive dysfunction of the cholesterol biosynthesis pathway in the R6/2 mouse model of Huntington's disease. Neurobiol Dis (2007) 1.08
Oxysterols as biomarkers in neurodegenerative diseases. Chem Phys Lipids (2011) 1.06
Differential effects of 24-hydroxycholesterol and 27-hydroxycholesterol on beta-amyloid precursor protein levels and processing in human neuroblastoma SH-SY5Y cells. Mol Neurodegener (2009) 1.05
Plasma levels of 24S-hydroxycholesterol reflect brain volumes in patients without objective cognitive impairment but not in those with Alzheimer's disease. Neurosci Lett (2009) 1.03
Impaired Coenzyme A metabolism affects histone and tubulin acetylation in Drosophila and human cell models of pantothenate kinase associated neurodegeneration. EMBO Mol Med (2011) 1.03
Bacterial degradation of bile salts. Appl Microbiol Biotechnol (2010) 1.02
Vitamin transport and homeostasis in mammalian brain: focus on Vitamins B and E. J Neurochem (2007) 0.96
Deuterium uptake and plasma cholesterol precursor levels correspond as methods for measurement of endogenous cholesterol synthesis in hypercholesterolemic women. Lipids (2000) 0.94
Synthesis of lanosterol in vivo. J Biol Chem (1957) 0.93
Whole body cholesterol metabolism is impaired in Huntington's disease. Neurosci Lett (2011) 0.92
Mitochondrial biosynthesis of coenzyme A. Biochem Biophys Res Commun (1979) 0.91
Cholesterol, hydroxycholesterols, and bile acids. Biochem Biophys Res Commun (2002) 0.87
Neurodegeneration in Niemann-Pick Type C disease and Huntington's disease: impact of defects in membrane trafficking. Curr Drug Targets (2009) 0.86
Plant sterols and stanols in the treatment of dyslipidemia: new insights into targets and mechanisms related to cardiovascular risk. Curr Pharm Des (2011) 0.85
Dietary rescue of fumble--a Drosophila model for pantothenate-kinase-associated neurodegeneration. J Inherit Metab Dis (2005) 0.84
Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci U S A (2005) 167.46
A mitochondrial protein compendium elucidates complex I disease biology. Cell (2008) 13.51
Metabolite profiles and the risk of developing diabetes. Nat Med (2011) 12.22
Defects in adaptive energy metabolism with CNS-linked hyperactivity in PGC-1alpha null mice. Cell (2004) 8.58
Activation of a metabolic gene regulatory network downstream of mTOR complex 1. Mol Cell (2010) 7.61
mTOR controls mitochondrial oxidative function through a YY1-PGC-1alpha transcriptional complex. Nature (2007) 7.12
Metabolite profiling identifies a key role for glycine in rapid cancer cell proliferation. Science (2012) 6.79
Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter. Nature (2011) 6.48
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. PLoS Genet (2010) 5.79
Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation. Cell Metab (2005) 5.61
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
The histone deacetylase Sirt6 regulates glucose homeostasis via Hif1alpha. Cell (2010) 5.11
MICU1 encodes a mitochondrial EF hand protein required for Ca(2+) uptake. Nature (2010) 4.88
Systematic identification of human mitochondrial disease genes through integrative genomics. Nat Genet (2006) 4.67
Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans. Proc Natl Acad Sci U S A (2009) 4.58
A mammalian organelle map by protein correlation profiling. Cell (2006) 4.54
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med (2012) 4.02
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet (2006) 3.97
Metabolic profiling of the human response to a glucose challenge reveals distinct axes of insulin sensitivity. Mol Syst Biol (2008) 3.82
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet (2012) 3.80
PGC1α expression defines a subset of human melanoma tumors with increased mitochondrial capacity and resistance to oxidative stress. Cancer Cell (2013) 3.71
SIRT3 opposes reprogramming of cancer cell metabolism through HIF1α destabilization. Cancer Cell (2011) 3.71
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet (2010) 3.31
TXNIP regulates peripheral glucose metabolism in humans. PLoS Med (2007) 3.27
Lipid profiling identifies a triacylglycerol signature of insulin resistance and improves diabetes prediction in humans. J Clin Invest (2011) 3.23
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet (2006) 3.17
Nutrient-sensitized screening for drugs that shift energy metabolism from mitochondrial respiration to glycolysis. Nat Biotechnol (2010) 3.08
Abnormal glucose homeostasis in skeletal muscle-specific PGC-1alpha knockout mice reveals skeletal muscle-pancreatic beta cell crosstalk. J Clin Invest (2007) 3.02
Engineered ascorbate peroxidase as a genetically encoded reporter for electron microscopy. Nat Biotechnol (2012) 2.98
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet (2006) 2.97
Large-scale chemical dissection of mitochondrial function. Nat Biotechnol (2008) 2.91
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain (2012) 2.87
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol (2007) 2.52
Relationship between testosterone levels, insulin sensitivity, and mitochondrial function in men. Diabetes Care (2005) 2.52
Mitochondrial disorders as windows into an ancient organelle. Nature (2012) 2.51
Metabolite profiling identifies pathways associated with metabolic risk in humans. Circulation (2012) 2.51
Analysis of glutathione: implication in redox and detoxification. Clin Chim Acta (2003) 2.48
Metabolite profiling of blood from individuals undergoing planned myocardial infarction reveals early markers of myocardial injury. J Clin Invest (2008) 2.46
Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis. Cell Metab (2009) 2.45
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain (2013) 2.40
EMRE is an essential component of the mitochondrial calcium uniporter complex. Science (2013) 2.39
The mitochondrial proteome and human disease. Annu Rev Genomics Hum Genet (2010) 2.38
PKM2 isoform-specific deletion reveals a differential requirement for pyruvate kinase in tumor cells. Cell (2013) 2.38
Programming human pluripotent stem cells into white and brown adipocytes. Nat Cell Biol (2012) 2.26
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet (2007) 2.17
2-Aminoadipic acid is a biomarker for diabetes risk. J Clin Invest (2013) 2.15
MICU1 controls both the threshold and cooperative activation of the mitochondrial Ca²⁺ uniporter. Cell Metab (2013) 2.15
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord (2010) 2.14
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol (2002) 2.12
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med (2009) 2.06
mTOR complex 1 plays critical roles in hematopoiesis and Pten-loss-evoked leukemogenesis. Cell Stem Cell (2012) 2.06
TRPV4 is a regulator of adipose oxidative metabolism, inflammation, and energy homeostasis. Cell (2012) 2.03
MICU2, a paralog of MICU1, resides within the mitochondrial uniporter complex to regulate calcium handling. PLoS One (2013) 1.99
Metabolic signatures of exercise in human plasma. Sci Transl Med (2010) 1.99
SIRT4 has tumor-suppressive activity and regulates the cellular metabolic response to DNA damage by inhibiting mitochondrial glutamine metabolism. Cancer Cell (2013) 1.99
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet (2003) 1.95
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression. FASEB J (2007) 1.92
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Hum Genet (2004) 1.89
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet (2006) 1.87
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol (2006) 1.86
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
Glioblastoma-derived tumorospheres identify a population of tumor stem-like cells with angiogenic potential and enhanced multidrug resistance phenotype. Glia (2006) 1.82
miRNAs as serum biomarkers for Duchenne muscular dystrophy. EMBO Mol Med (2011) 1.80
Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians. Eur J Hum Genet (2005) 1.71
MCT1-mediated transport of a toxic molecule is an effective strategy for targeting glycolytic tumors. Nat Genet (2012) 1.70
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am J Hum Genet (2011) 1.70
Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects. Biochim Biophys Acta (2008) 1.66
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet (2004) 1.66
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet (2002) 1.64
Metabolite profiling identifies markers of uremia. J Am Soc Nephrol (2010) 1.63
Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. Am J Hum Genet (2008) 1.58
Mesenchymal stromal cells primed with paclitaxel provide a new approach for cancer therapy. PLoS One (2011) 1.58
Age-related iron deposition in the basal ganglia: quantitative analysis in healthy subjects. Radiology (2009) 1.56