Published in Arch Biochem Biophys on November 29, 2012
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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
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Hormone-sensitive lipase deficiency in mice causes diglyceride accumulation in adipose tissue, muscle, and testis. J Biol Chem (2001) 3.10
FAT SIGNALS--lipases and lipolysis in lipid metabolism and signaling. Cell Metab (2012) 2.96
Lipoprotein lipase: the regulation of tissue specific expression and its role in lipid and energy metabolism. Curr Opin Lipidol (2002) 2.85
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
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Obese yeast: triglyceride lipolysis is functionally conserved from mammals to yeast. J Biol Chem (2005) 2.11
Structural analysis of the protein phosphatase 1 docking motif: molecular description of binding specificities identifies interacting proteins. Chem Biol (2006) 2.08
The C-terminal region of human adipose triglyceride lipase affects enzyme activity and lipid droplet binding. J Biol Chem (2008) 1.80
Growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect in mice lacking comparative gene identification-58 (CGI-58). J Biol Chem (2009) 1.72
Adiponutrin functions as a nutritionally regulated lysophosphatidic acid acyltransferase. Cell Metab (2012) 1.71
Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. Am J Hum Genet (2009) 1.71
AMBER force-field parameters for phosphorylated amino acids in different protonation states: phosphoserine, phosphothreonine, phosphotyrosine, and phosphohistidine. J Mol Model (2005) 1.69
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum Mutat (2010) 1.59
Long-term subjective and radiological outcome after reconstruction of Kienböck's disease stage 3 treated by a free vascularized iliac bone graft. J Hand Surg Am (2008) 1.55
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet (2012) 1.55
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Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am J Hum Genet (2007) 1.51
Increased hepatic insulin sensitivity together with decreased hepatic triglyceride stores in hormone-sensitive lipase-deficient mice. Endocrinology (2003) 1.47
MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and Golgi architecture as a central mechanism in growth regulation. Hum Mutat (2014) 1.45
Monoglyceride lipase deficiency in mice impairs lipolysis and attenuates diet-induced insulin resistance. J Biol Chem (2011) 1.42
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. Am J Hum Genet (2005) 1.40
Structure of the L1 protuberance in the ribosome. Nat Struct Biol (2003) 1.39
The T-cell lymphokine interleukin-26 targets epithelial cells through the interleukin-20 receptor 1 and interleukin-10 receptor 2 chains. J Biol Chem (2004) 1.38
Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). Eur Heart J (2011) 1.37
Adipose triglyceride lipase plays a key role in the supply of the working muscle with fatty acids. J Lipid Res (2009) 1.36
On the hypes and falls in neuroprotection: targeting the NMDA receptor. Neuroscientist (2007) 1.34
Adipose triglyceride lipase in human skeletal muscle is upregulated by exercise training. Am J Physiol Endocrinol Metab (2008) 1.33
G0/G1 switch gene-2 regulates human adipocyte lipolysis by affecting activity and localization of adipose triglyceride lipase. J Lipid Res (2012) 1.32
Studies on the substrate and stereo/regioselectivity of adipose triglyceride lipase, hormone-sensitive lipase, and diacylglycerol-O-acyltransferases. J Biol Chem (2012) 1.32
The N-terminal region of comparative gene identification-58 (CGI-58) is important for lipid droplet binding and activation of adipose triglyceride lipase. J Biol Chem (2010) 1.30
Remodeling of lipid droplets during lipolysis and growth in adipocytes. J Biol Chem (2012) 1.29
Dual selection pressure by drugs and HLA class I-restricted immune responses on human immunodeficiency virus type 1 protease. J Virol (2007) 1.28
Hormone-sensitive lipase deficiency in mice changes the plasma lipid profile by affecting the tissue-specific expression pattern of lipoprotein lipase in adipose tissue and muscle. J Biol Chem (2002) 1.22
The ATGL gene is associated with free fatty acids, triglycerides, and type 2 diabetes. Diabetes (2006) 1.22
Cholesteryl ester hydrolase activity is abolished in HSL-/- macrophages but unchanged in macrophages lacking KIAA1363. J Lipid Res (2010) 1.20
Effects of platelet-rich plasma on bone healing in combination with autogenous bone and bone substitutes in critical-size defects. An animal experiment. Clin Oral Implants Res (2004) 1.17
Mutations in IL36RN in patients with generalized pustular psoriasis. J Invest Dermatol (2013) 1.17
Structural investigation of the binding of a herpesviral protein to the SH3 domain of tyrosine kinase Lck. Biochemistry (2002) 1.17
B cell repertoire analysis identifies new antigenic domains on glycoprotein B of human cytomegalovirus which are target of neutralizing antibodies. PLoS Pathog (2011) 1.16
Cytomegaloviral proteins that associate with the nuclear lamina: components of a postulated nuclear egress complex. J Gen Virol (2009) 1.16
Estrogen and progesterone receptors: from molecular structures to clinical targets. Cell Mol Life Sci (2009) 1.16
Reduced expression of the neuron restrictive silencer factor permits transcription of glycine receptor alpha1 subunit in small-cell lung cancer cells. Oncogene (2003) 1.15
Novel mode of phosphorylation-triggered reorganization of the nuclear lamina during nuclear egress of human cytomegalovirus. J Biol Chem (2010) 1.14
The minimal domain of adipose triglyceride lipase (ATGL) ranges until leucine 254 and can be activated and inhibited by CGI-58 and G0S2, respectively. PLoS One (2011) 1.14
Cardiac-specific overexpression of perilipin 5 provokes severe cardiac steatosis via the formation of a lipolytic barrier. J Lipid Res (2013) 1.13
CD and NMR studies of prion protein (PrP) helix 1. Novel implications for its role in the PrPC-->PrPSc conversion process. J Biol Chem (2003) 1.13
Variants in ASB10 are associated with open-angle glaucoma. Hum Mol Genet (2011) 1.12
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics (2009) 1.10
Polymorphisms of TLR4: rapid genotyping and reduced response to lipopolysaccharide of TLR4 mutant alleles. Clin Chem (2002) 1.10
Sinus floor augmentation with beta-tricalciumphosphate (beta-TCP): does platelet-rich plasma promote its osseous integration and degradation? Clin Oral Implants Res (2003) 1.10
Letting lipids go: hormone-sensitive lipase. Curr Opin Lipidol (2003) 1.09
Possible reasons for variable leukapheresis collection outcomes with automated apheresis systems. Transfusion (2014) 1.08
Dependency of intraocular pressure elevation and glaucomatous changes in DBA/2J and DBA/2J-Rj mice. Invest Ophthalmol Vis Sci (2008) 1.08
A computational strategy for the prediction of functional linear peptide motifs in proteins. Bioinformatics (2007) 1.07
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. Am J Med Genet A (2009) 1.07
The lipolytic proteome of mouse adipose tissue. Mol Cell Proteomics (2005) 1.07
Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia. Biochem Biophys Res Commun (2006) 1.06
In vitro quality control of red blood cell concentrates outdated in clinical practice. Transfus Clin Biol (2003) 1.06
Adipose tissue as a source of nicotinamide N-methyltransferase and homocysteine. Atherosclerosis (2008) 1.05
Identification of Yju3p as functional orthologue of mammalian monoglyceride lipase in the yeast Saccharomycescerevisiae. Biochim Biophys Acta (2010) 1.03
Identification of an insulin-regulated lysophospholipase with homology to neuropathy target esterase. J Biol Chem (2007) 1.03
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. Hum Mutat (2011) 1.03
Inhibitory glycine receptors: an update. J Biol Chem (2012) 1.02
De novo mutations in the genome organizer CTCF cause intellectual disability. Am J Hum Genet (2013) 1.01
The inhibitory glycine receptor-simple views of a complicated channel. Chembiochem (2002) 1.01
A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na+ self inhibition. J Physiol (2010) 1.01
Analysis of the structure-activity relationship of four herpesviral UL97 subfamily protein kinases reveals partial but not full functional conservation. J Med Chem (2006) 1.00
Profiling of WDR36 missense variants in German patients with glaucoma. Invest Ophthalmol Vis Sci (2008) 1.00
A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. Am J Hum Genet (2004) 1.00
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. Hum Mutat (2008) 1.00
Functional cardiac lipolysis in mice critically depends on comparative gene identification-58. J Biol Chem (2013) 1.00
Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome. Mol Genet Metab (2008) 0.99
The Marburg I polymorphism of factor VII-activating protease and the risk of venous thromboembolism. Thromb Haemost (2007) 0.99
Functional complementation of Glra1(spd-ot), a glycine receptor subunit mutant, by independently expressed C-terminal domains. J Neurosci (2009) 0.99
Role of adipose triglyceride lipase (PNPLA2) in protection from hepatic inflammation in mouse models of steatohepatitis and endotoxemia. Hepatology (2014) 0.99
Oral treatment with the d-enantiomeric peptide D3 improves the pathology and behavior of Alzheimer's Disease transgenic mice. ACS Chem Neurosci (2010) 0.98
Structural characterization of Lyn-SH3 domain in complex with a herpesviral protein reveals an extended recognition motif that enhances binding affinity. Protein Sci (2005) 0.97
The new generation of platelet additive solution for storage at 22 degrees C: development and current experience. Transfus Med Rev (2006) 0.97
Multifunctional basic motif in the glycine receptor intracellular domain induces subunit-specific sorting. J Biol Chem (2009) 0.96
Oxidative stress-induced posttranslational modifications of alpha-synuclein: specific modification of alpha-synuclein by 4-hydroxy-2-nonenal increases dopaminergic toxicity. Mol Cell Neurosci (2013) 0.96
Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons. Hum Mol Genet (2013) 0.96
Effect of specimen anticoagulation on the measurement of circulating platelet-derived growth factors. Clin Chem (2005) 0.96
Recognition of T-rich single-stranded DNA by the cold shock protein Bs-CspB in solution. Nucleic Acids Res (2006) 0.96
Contraction-induced lipolysis is not impaired by inhibition of hormone-sensitive lipase in skeletal muscle. J Physiol (2013) 0.95
Binding, domain orientation, and dynamics of the Lck SH3-SH2 domain pair and comparison with other Src-family kinases. Biochemistry (2005) 0.95
Lipidomic analysis of lipid droplets from murine hepatocytes reveals distinct signatures for nutritional stress. J Lipid Res (2012) 0.95
Endothelial lipase provides an alternative pathway for FFA uptake in lipoprotein lipase-deficient mouse adipose tissue. J Clin Invest (2005) 0.95
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Specific residues of a conserved domain in the N terminus of the human cytomegalovirus pUL50 protein determine its intranuclear interaction with pUL53. J Biol Chem (2012) 0.94