Mutations in metabolic enzymes, including isocitrate dehydrogenase 1 (IDH1) and IDH2, in
cancer strongly implicate altered metabolism in tumorigenesis. IDH1 and IDH2 catalyze the …

An emerging view emphasizes that metabolism is highly regulated in both time and space.
In addition, it is increasingly being recognized that metabolic pathways are tightly connected …

We discovered recently that the central metabolite α-ketoglutarate (α-KG) extends the
lifespan of C. elegans through inhibition of ATP synthase and TOR signaling. Here we find …

The organic acidurias d-2-hydroxyglutaric aciduria (D-2-HGA), l-2-hydroxyglutaric aciduria
(L-2-HGA), and combined d, l-2-hydroxyglutaric aciduria (D, L-2-HGA) cause neurological …

The most frequently mutated metabolic genes in human cancer are those encoding the
enzymes isocitrate dehydrogenase 1 (IDH1) and IDH2; these mutations have so far been …

There is currently no accepted classification of autosomal recessive cerebellar ataxias, a
group of disorders characterized by important genetic heterogeneity and complex …

Whole genome analyses have facilitated the discovery of clinically relevant genetic
alterations in a variety of diseases, most notably cancer. A prominent example of this was …

Heterozygous somatic mutations in the genes encoding isocitrate dehydrogenase-1 and-2
(IDH1 and IDH2) were recently discovered in human neoplastic disorders. These mutations …

Isocitrate dehydrogenases play important roles in cellular metabolism and cancer. This
review will discuss how the roles of isoforms 1 and 2 in normal cell and cancer metabolism …

Macrocephaly affects up to 5% of the pediatric population and is defined as an abnormally
large head with an occipitofrontal circumference (OFC)> 2 standard deviations (SD) above …