2-hydroxyglutarate detection by magnetic resonance spectroscopy in IDH-mutated patients with gliomas

…, JM Raisanen, I Marin-Valencia, JM Pascual… - Nature medicine, 2012 - nature.com
Mutations in isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2) have been shown to be
present in most World Health Organization grade 2 and grade 3 gliomas in adults. These …

Altered cerebellar connectivity in autism and cerebellar-mediated rescue of autism-related behaviors in mice

…, E Kelly, F Meng, CA Cano, JM Pascual… - Nature …, 2017 - nature.com
Cerebellar abnormalities, particularly in Right Crus I (RCrusI), are consistently reported in
autism spectrum disorders (ASD). Although RCrusI is functionally connected with ASD-…

Glut‐1 deficiency syndrome: clinical, genetic, and therapeutic aspects

D Wang, JM Pascual, H Yang… - Annals of Neurology …, 2005 - Wiley Online Library
Impaired glucose transport across the blood‐brain barrier results in Glut‐1 deficiency syndrome
(Glut‐1 DS, OMIM 606777), characterized by infantile seizures, developmental delay, …

[PDF][PDF] Analysis of tumor metabolism reveals mitochondrial glucose oxidation in genetically diverse human glioblastomas in the mouse brain in vivo

…, KJ Hatanpaa, BE Mickey, JM Matés, JM Pascual… - Cell metabolism, 2012 - cell.com
Dysregulated metabolism is a hallmark of cancer cell lines, but little is known about the fate
of glucose and other nutrients in tumors growing in their native microenvironment. To study …

Metabolism of [U‐13C]glucose in human brain tumors in vivo

…, C Madden, D Mathews, JM Pascual… - NMR in …, 2012 - Wiley Online Library
Glioblastomas and brain metastases demonstrate avid uptake of 2‐[ 18 F]fluoro‐2‐deoxyglucose
by positron emission tomography and display perturbations of intracellular metabolite …

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

…, UR Monani, H Oguni, E Neal, JM Pascual… - Epilepsia …, 2020 - Wiley Online Library
Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired
glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is …

Effect of hypoxia and hyperoxia on cerebral blood flow, blood oxygenation, and oxidative metabolism

F Xu, P Liu, JM Pascual, G Xiao… - Journal of Cerebral …, 2012 - journals.sagepub.com
Characterizing the effect of oxygen (O 2 ) modulation on the brain may provide a better
understanding of several clinically relevant problems, including acute mountain sickness and …

A mouse model for Glut-1 haploinsufficiency

D Wang, JM Pascual, H Yang… - Human molecular …, 2006 - academic.oup.com
Glut-1 deficiency syndrome (Glut-1 DS, OMIM #606777) is characterized by infantile seizures,
developmental delay, acquired microcephaly and hypoglycorrhachia. It is caused by …

Autosomal dominant glut‐1 deficiency syndrome and familial epilepsy

…, A Von Moers, YY Ho, JM Pascual… - Annals of Neurology …, 2001 - Wiley Online Library
Glut‐1 deficiency syndrome was first described in 1991 as a sporadic clinical condition, later
shown to be the result of haploinsufficiency. We now report a family with Glut‐1 deficiency …

GLUT1 deficiency and other glucose transporter diseases

JM Pascual, D Wang, B Lecumberri… - European journal of …, 2004 - academic.oup.com
We review the three genetically determined disorders of glucose transport across cell
membranes. Diseases such as glucose-galactose malabsorption, Fanconi-Bickel syndrome and …