Published in Mol Genet Metab on August 09, 2007
Inborn errors of ketogenesis and ketone body utilization. J Inherit Metab Dis (2011) 0.97
Functional insights into human HMG-CoA lyase from structures of Acyl-CoA-containing ternary complexes. J Biol Chem (2010) 0.93
Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. J Inherit Metab Dis (2015) 0.84
A comprehensive machine-readable view of the mammalian cholesterol biosynthesis pathway. Biochem Pharmacol (2013) 0.82
A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. Ital J Pediatr (2013) 0.82
The 3-hydroxy-methylglutaryl coenzyme A lyase HCL1 is required for macrophage colonization by human fungal pathogen Histoplasma capsulatum. Infect Immun (2012) 0.81
Protein functional links in Trypanosoma brucei, identified by gene fusion analysis. BMC Evol Biol (2011) 0.80
Influence of multiple cysteines on human 3-hydroxy-3-methylglutaryl-CoA lyase activity and formation of inter-subunit adducts. Arch Biochem Biophys (2011) 0.80
Identification and characterization of an extramitochondrial human 3-hydroxy-3-methylglutaryl-CoA lyase. J Biol Chem (2012) 0.79
Genetic deletion of Rheb1 in the brain reduces food intake and causes hypoglycemia with altered peripheral metabolism. Int J Mol Sci (2014) 0.78
Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol. J Lipid Res (2012) 0.78
Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, South America. J Inherit Metab Dis (2007) 0.75
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet (2006) 4.49
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet (2007) 4.20
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med (2011) 3.46
Molecular therapy for obesity and diabetes based on a long-term increase in hepatic fatty-acid oxidation. Hepatology (2011) 2.39
Carnitine insufficiency caused by aging and overnutrition compromises mitochondrial performance and metabolic control. J Biol Chem (2009) 2.28
Structure and function of a protein folding machine: the eukaryotic cytosolic chaperonin CCT. FEBS Lett (2002) 1.92
Strong FtsZ is with the force: mechanisms to constrict bacteria. Trends Microbiol (2010) 1.58
Modulating the RNA processing and decay by the exosome: altering Rrp44/Dis3 activity and end-product. PLoS One (2013) 1.48
Structure of eukaryotic prefoldin and of its complexes with unfolded actin and the cytosolic chaperonin CCT. EMBO J (2002) 1.42
Quasi-atomic model of bacteriophage t7 procapsid shell: insights into the structure and evolution of a basic fold. Structure (2007) 1.40
CPT1c is localized in endoplasmic reticulum of neurons and has carnitine palmitoyltransferase activity. J Biol Chem (2008) 1.40
The structure of CCT-Hsc70 NBD suggests a mechanism for Hsp70 delivery of substrates to the chaperonin. Nat Struct Mol Biol (2008) 1.29
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. Am J Med Genet A (2010) 1.26
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet (2014) 1.25
Determination of key residues for catalysis and RNA cleavage specificity: one mutation turns RNase II into a "SUPER-ENZYME". J Biol Chem (2009) 1.22
Neutralization of human respiratory syncytial virus infectivity by antibodies and low-molecular-weight compounds targeted against the fusion glycoprotein. J Virol (2010) 1.21
Phage-display and correlated mutations identify an essential region of subdomain 1C involved in homodimerization of Escherichia coli FtsA. Proteins (2003) 1.17
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. Eur J Hum Genet (2006) 1.14
Novel role of FATP1 in mitochondrial fatty acid oxidation in skeletal muscle cells. J Lipid Res (2009) 1.12
Buccal fat pad, an oral access source of human adipose stem cells with potential for osteochondral tissue engineering: an in vitro study. Tissue Eng Part C Methods (2010) 1.08
New insights into the mechanism of RNA degradation by ribonuclease II: identification of the residue responsible for setting the RNase II end product. J Biol Chem (2008) 1.08
CPT I overexpression protects L6E9 muscle cells from fatty acid-induced insulin resistance. Am J Physiol Endocrinol Metab (2006) 1.06
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. Am J Med Genet A (2010) 1.06
Divergent substrate-binding mechanisms reveal an evolutionary specialization of eukaryotic prefoldin compared to its archaeal counterpart. Structure (2007) 1.04
Structural and functional model for ionic (K(+)/Na(+)) and pH dependence of GTPase activity and polymerization of FtsZ, the prokaryotic ortholog of tubulin. J Mol Biol (2009) 1.03
Important roles of brain-specific carnitine palmitoyltransferase and ceramide metabolism in leptin hypothalamic control of feeding. Proc Natl Acad Sci U S A (2011) 1.00
Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients. Mol Genet Metab (2005) 1.00
Identification of conserved amino acid residues in rat liver carnitine palmitoyltransferase I critical for malonyl-CoA inhibition. Mutation of methionine 593 abolishes malonyl-CoA inhibition. J Biol Chem (2002) 0.99
Scoring docking models with evolutionary information. Proteins (2005) 0.98
Structural model of a malonyl-CoA-binding site of carnitine octanoyltransferase and carnitine palmitoyltransferase I: mutational analysis of a malonyl-CoA affinity domain. J Biol Chem (2002) 0.96
A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys. Am J Med Genet A (2008) 0.96
Ceramide levels regulated by carnitine palmitoyltransferase 1C control dendritic spine maturation and cognition. J Biol Chem (2012) 0.96
C75 is converted to C75-CoA in the hypothalamus, where it inhibits carnitine palmitoyltransferase 1 and decreases food intake and body weight. Biochem Pharmacol (2008) 0.95
Adenovirus-mediated overexpression of liver carnitine palmitoyltransferase I in INS1E cells: effects on cell metabolism and insulin secretion. Biochem J (2002) 0.95
Control of the respiratory metabolism of Thermus thermophilus by the nitrate respiration conjugative element NCE. Mol Microbiol (2007) 0.95
Identification of multicopy suppressors of cell cycle arrest at the G1-S transition in Saccharomyces cerevisiae. Yeast (2003) 0.95
Alteration of the malonyl-CoA/carnitine palmitoyltransferase I interaction in the beta-cell impairs glucose-induced insulin secretion. Diabetes (2005) 0.94
Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. Am J Med Genet A (2010) 0.93
Redesign of carnitine acetyltransferase specificity by protein engineering. J Biol Chem (2004) 0.93
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin. Neuromuscul Disord (2009) 0.92
Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria. J Inherit Metab Dis (2010) 0.92
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination. J Exp Med (2013) 0.91
Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations. Hum Mutat (2009) 0.91
The Role of Gln61 in HRas GTP hydrolysis: a quantum mechanics/molecular mechanics study. Biophys J (2012) 0.90
Aging results in paradoxical susceptibility of fat cell progenitors to lipotoxicity. Am J Physiol Endocrinol Metab (2006) 0.90
Definition by functional and structural analysis of two malonyl-CoA sites in carnitine palmitoyltransferase 1A. J Biol Chem (2007) 0.89
Novel effect of C75 on carnitine palmitoyltransferase I activity and palmitate oxidation. Biochemistry (2006) 0.88
An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease. Proteins (2008) 0.88
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat (2015) 0.87
Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway. Mol Biol Rep (2011) 0.87
Mutational spectrum of maple syrup urine disease in Spain. Hum Mutat (2006) 0.86
Nanomechanics of the cadherin ectodomain: "canalization" by Ca2+ binding results in a new mechanical element. J Biol Chem (2010) 0.86
Cornelia de Lange syndrome: extending the physical and psychological phenotype. Am J Med Genet A (2010) 0.86
Hypothalamic ceramide levels regulated by CPT1C mediate the orexigenic effect of ghrelin. Diabetes (2013) 0.85
Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal. Biochem J (2004) 0.85
Residues in human respiratory syncytial virus P protein that are essential for its activity on RNA viral synthesis. Virus Res (2008) 0.85
Developmental ORIgins of Healthy and Unhealthy AgeiNg: the role of maternal obesity--introduction to DORIAN. Obes Facts (2014) 0.85
Fatty acid synthase is a metabolic marker of cell proliferation rather than malignancy in ovarian cancer and its precursor cells. Int J Cancer (2014) 0.84
Human Variome Project country nodes: documenting genetic information within a country. Hum Mutat (2012) 0.83
Differential effects of central ghrelin on fatty acid metabolism in hypothalamic ventral medial and arcuate nuclei. Physiol Behav (2013) 0.82
Differential pharmacologic properties of the two C75 enantiomers: (+)-C75 is a strong anorectic drug; (-)-C75 has antitumor activity. Chirality (2013) 0.82
Swapping the domains of exoribonucleases RNase II and RNase R: conferring upon RNase II the ability to degrade ds RNA. Proteins (2011) 0.82
CDP-choline prevents glutamate-mediated cell death in cerebellar granule neurons. J Mol Neurosci (2003) 0.82
Surface-Enhanced Raman scattering-based detection of the interactions between the essential cell division FtsZ protein and bacterial membrane elements. ACS Nano (2012) 0.81
Malonyl-CoA mediates leptin hypothalamic control of feeding independent of inhibition of CPT-1a. Am J Physiol Regul Integr Comp Physiol (2011) 0.81
Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency. Mol Genet Metab (2013) 0.81