Search Results - "Dimitriou, Evangelia"
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Correction: Loss of β-Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal Cells
Published in PloS one (04-06-2021)“…[This corrects the article DOI: 10.1371/journal.pone.0060674.]…”
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Loss of β-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cells
Published in PloS one (08-04-2013)“…To date, a plethora of studies have provided evidence favoring an association between Gaucher disease (GD) and Parkinson's disease (PD). GD, the most common…”
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Prevalence of antibodies to ganglioside and Hep 2 in Gaucher, Niemann – Pick type C and Sanfilippo diseases
Published in Molecular genetics and metabolism reports (01-09-2019)“…Lysosomal Storage Diseases (LSDs) are rare genetic diseases, the majority of which are caused by specific lysosomal enzyme deficiencies and all are…”
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Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece
Published in Molecular genetics and metabolism reports (01-09-2020)“…Gaucher disease (GD) is characterized by a marked phenotypic and genetic diversity. It is caused by the functional deficiency of the lysosomal enzyme…”
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The Spectrum of Niemann-Pick Type C Disease in Greece
Published in JIMD Reports, Volume 36 (01-01-2017)“…Niemann-Pick type C disease (NPC) is a neurovisceral lysosomal storage disease caused by mutations in either the NPC1 or the NPC2 gene. It is a cellular lipid…”
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Correction: Loss of [beta]-Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal Cells
Published in PloS one (04-06-2021)Get full text
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α-Synuclein dimerization in erythrocytes of Gaucher disease patients: correlation with lipid abnormalities and oxidative stress
Published in Neuroscience letters (02-02-2016)“…•Increased alpha-synuclein (a-Syn) dimer/monomer ratio in Gaucher disease (GD) erythrocyte membranes vs. controls.•Positive correlation of a-Syn status with…”
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Gaucher disease: Plasmalogen levels in relation to primary lipid abnormalities and oxidative stress
Published in Blood cells, molecules, & diseases (01-06-2014)“…Plasmalogens represent a unique class of phospholipids. Reduced red blood cell plasmalogen levels in Gaucher disease patients were reported, correlating to…”
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Loss of [beta]-Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal Cells
Published in PloS one (08-04-2013)“…To date, a plethora of studies have provided evidence favoring an association between Gaucher disease (GD) and Parkinson's disease (PD). GD, the most common…”
Get full text
Journal Article -
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Transferrin isoelectric focusing and plasma lysosomal enzyme activities in the diagnosis and follow‐up of hereditary fructose intolerance
Published in Clinica chimica acta (09-10-2012)Get full text
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Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia
Published in Clinica chimica acta (01-03-2009)“…Variable increases in the plasma activity of different lysosomal enzymes have been reported in patients with congenital disorders of glycosylation (CDG). In…”
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Plasmalogen levels in Gaucher disease
Published in Blood cells, molecules, & diseases (01-09-2008)“…Plasmalogens represent a unique type of phospholipids characterized by the presence of a vinyl-ether bond at the sn-1 position of the glycerol backbone…”
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Loss of beta -Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal Cells. e60674
Published in PloS one (01-04-2013)“…To date, a plethora of studies have provided evidence favoring an association between Gaucher disease (GD) and Parkinson's disease (PD). GD, the most common…”
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Perinatal lethal form of Gaucher disease. Clinical and molecular characterization of a Greek case
Published in Blood cells, molecules, & diseases (15-02-2010)Get full text
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Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele
Published in Human mutation (01-06-2008)“…Gaucher disease is an autosomal recessive lysosomal storage disease that is mainly due to mutations in the GBA gene. Most of the mutant alleles described so…”
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The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings
Published in JIMD Reports, Volume 25 (01-01-2016)“…Krabbe disease is an autosomal recessive neurodegenerative lysosomal storage disease caused by the deficiency of β-galactocerebrosidase. This deficiency…”
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Linoleic and arachidonic acid in perinatal asphyxia and prematurity
Published in The journal of maternal-fetal & neonatal medicine (01-08-2007)“…Objectives. Long-chain polyunsaturated fatty acids (LC-PUFA) are important for fetal and infant growth and development. The effects of prematurity and…”
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Serial magnetic resonance imaging and neurophysiological studies in multiple sulphatase deficiency
Published in European journal of paediatric neurology (01-05-2008)“…Abstract We present serial clinical, magnetic resonance imaging (MRI) and neurophysiological findings of a patient with multiple sulphatase deficiency (MSD),…”
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Genetically modified foods: the effect of information
Published in Nutrition and food science (01-06-2005)“…Purpose - This paper examines the attitudes of young Greek University students towards genetically modified (GM) foods and studies the effect of appropriate…”
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The facile detection of 1505G→A in Gaucher patients with different phenotypes
Published in Biochimica et biophysica acta (31-05-2001)“…In Gaucher disease patients, over 100 disease-causing mutations have been identified. For identification of the 1504C→T (R463C) mutation it is common to use…”
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