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β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease.
8 different GBA mutations covering 87% of the mutations identified in Gaucher disease patients diagnosed in Greece were investigated in two ethnic Greek cohorts of patients with sporadic Parkinson's disease and an impressive association with EOPD was found. Expand
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele
The detrimental cumulative effect of these two mutations at the enzymatic activity level by the heterologous expression of the single and double mutant alleles is confirmed. Expand
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Uncharacterized transmembrane protein 199 (TMEM199), previously called C17orf32, is identified as a protein involved in Golgi homeostasis and show that TMEM199 deficiency results in a hepatic phenotype with abnormal glycosylation. Expand
Genetic assessment of familial and early‐onset Parkinson's disease in a Greek population
Although the first mutation associated with Parkinson's disease (PD) was identified several years ago in the alpha‐synuclein (SNCA) gene in families of Greek and Italian ancestry, a more systematicExpand
Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease
This study supports a genetic contribution of the SCARB2 locus to PD; future studies in larger cohorts are necessary to verify this finding. Expand
Alpha-synuclein dimerization in erythrocytes of patients with genetic and non-genetic forms of Parkinson’s Disease
The increased α-synuclein dimer in GBA-PD and GU-PD is suggestive of an apparent systemic dysfunction causing the dimerization, and potentially oligomerization, of α- synuclein. Expand
Gaucher disease: plasmalogen levels in relation to primary lipid abnormalities and oxidative stress.
The results indicate that increased lipid peroxidation and reduced total antioxidant status exist in Gaucher disease patients, demonstrating a clear link between plasmalogen levels and the primary glycolipid abnormalities characterizing the disorder and an association with the increased oxidative stress observed in patients. Expand
Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia.
Increased AGA plasma activity, although a consistent finding in CDGI patients, is not specific to this group of disorders since it is also observed in untreated cases of GALT and HFI and cannot serve as a marker for CDGII disorders. Expand
Danon disease: Further clinical and molecular heterogeneity
Two families of Greek patients with subclinical to severe cardiomyopathy are presented, and a substitution in the GLA gene (c.937G>T) was found, and its involvement in the cardiac disease is discussed. Expand
Transferrin isoelectric focusing and plasma lysosomal enzyme activities in the diagnosis and follow-up of hereditary fructose intolerance.
TfIEF has been proposed as a powerful tool in the diagnosis of HFI and possibly in the follow-up of treated cases and the cathodal shift observed in the IEF of lysosomal enzymes from untreated HFI patients suggests that these proteins are hypoglycosylated in a similar manner to transferrin. Expand