Does renal GCDH expression contribute to the explanation of the two excretor types in glutaric aciduria type I?

Détails

Ressource 1Télécharger: BIB_A82A5448C8D6.P001.pdf (1656.37 [Ko])
Etat: Public
Version: Après imprimatur
ID Serval
serval:BIB_A82A5448C8D6
Type
Mémoire
Sous-type
(Mémoire de) maîtrise (master)
Collection
Publications
Institution
Titre
Does renal GCDH expression contribute to the explanation of the two excretor types in glutaric aciduria type I?
Auteur(s)
PARATA G.
Directeur(s)
BALLHAUSEN D.
Détails de l'institution
Université de Lausanne, Faculté de biologie et médecine
Statut éditorial
Acceptée
Date de publication
2015
Langue
anglais
Nombre de pages
29
Résumé
This Master Thesis was carried out at the University of Lausanne and is part of the master's curriculum in the School of Medicine(1). All manipulations have been done at the laboratory of the "Centre des Maladies Moléculaires" (CMM) which is part of the "Département Médico-Chirurgical de Pédiatrie" (DMCP) at the "Centre Hospitalier Universitaire Vaudois" (CHUV) (2).
One of the research groups of the CMM works on fundamental and translational research on organic acidurias, mainly on glutaric aciduria type 1 (GA-1) and methylmalonic aciduria with a special focus on the understanding of pathophysiological mechanisms leading to brain damage in these diseases (2-5).
The research exposed below is part of a subproject of the research on GA-1 which aims to understand the physiological role of GCDH in proximal tubular cells of the kidney and to elucidate whether its presence in these specific cells might be the explanation for the existence of two excretor types (low and high excretors) in GA-I patients (6).
Mots-clé
GA-1, GCDH, PTEC, culture épithéliale
Création de la notice
01/09/2016 10:46
Dernière modification de la notice
20/08/2019 16:12
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