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RESEARCH GROUPS







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PROGRAMME:
Group U759
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Inherited Metabolic 
Medicine

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Group Members
Lead Researcher

Pujol Onofre, Aurora
STAFF MEMBERS
Launay, Nathalie 

Ruiz Sales, Montserrat
Contact:
ASSOCIATED MEMBERS
IDIBELL 
Contact: Montse Ruiz Coppa, Andrea 
Dalf Capella, Esther 
Hospital Durn i Reynals (3a planta), 
Gran Va de l’Hospitalet, 199. 08908 L’Hospitalet de Llobregat. Barcelona Fourcade Guillou, Stphane 
Galino Barrs, Jorge 
Phone: (+34) 93 260 71 37 
E.mail: [email protected] · Website: http://www.neurometabolic-lab.org/
Grau Guijarro, Laia 
Guilera Zapater, Cristina 

Kumar Guha, Sanjib 
Main lines of research
Lpez Erauskin, Jone 
Lpez Toledano, Eva 
• Physiopathology of adrenoleukodystrophy: impact of oxidative stress in 
Martnez Garca, Juan Jos mitochondrial function, energetic homeostasis and proteolytic processes, 
Morat Fornaguera, Laia 
using the mouse model developed and characterized in our laboratory and 
Ortega Gonzlez, Fco. Javier 
Ranea, Pablo tissues of X-ALD patients.
13
20
Schlter Martn, Agatha
• Treatment of adrenoleukodystrophy: preclinical tests in the mouse model T 
and clinical trials in patients with X-ALD.
R
PO
E
• Peroxisomal integrative genomics. Peroxisomal metabolome characteriza- L R
tion and the organelle’s evolutive origin.
A
NU
• Physiopathology of Pelizaeus Merzbacher disease, metachromatic leukod- N
 A
ystrophy and other leukodystrophies.
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ER
• Disease model of adrenoleukodystrophy in C.elegans: role of fatty acids in ER
B
oxidative stress, neurodegeneration and aging.
CI


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