7 research outputs found
Indices cardiorespiratoires de performance chez l'enfant par mesure simultanée et indépendante de la consommation d'oxygène et du débit cardiaque
Détermination non invasive de la capacité maximale d'extraction tissulaire de l'oxygène d(a - v)O2 et niveaux d'aptitude physique d'adolescents sportifs
Efficient Biocatalytic Conversion of Stranded Green Macroalgal Biomass Using a Specific Cellulases-Based Cocktail
ATP13A2 variability in Parkinson disease
Recessively inherited mutations in
ATP13A2
result in Kufor-Rakeb syndrome, whereas genetic variability and elevated
ATP13A2
expression have been implicated in Parkinson disease (PD). Given this background,
ATP13A2
was comprehensively assessed to support or refute its contribution to PD. Sequencing of
ATP13A2
exons and intron-exon boundaries was performed in 89 probands with familial parkinsonism from Tunisia. The segregation of mutations with parkinsonism was subsequently assessed within pedigrees. The frequency of genetic variants and evidence for association was also examined in 240 patients with non-familial PD and 372 healthy controls.
ATP13A2
mRNA expression was also quantified in brain tissues from 38 patients with non-familial PD and 38 healthy subjects from the US. Sequencing analysis revealed 37 new variants; seven missense, six silent and 24 that were noncoding. However, no single
ATP13A2
mutation segregated with familial parkinsonism in either a dominant or recessive manner. Four markers showed marginal association with non-familial PD, prior to correction for multiple testing.
ATP13A2
mRNA expression was marginally decreased in PD brains compared with tissue from control subjects. In conclusion, neither
ATP13A2
genetic variability nor quantitative gene expression in brain appears to contribute to familial parkinsonism or non-familial PD