Laura Ohl
YOU?
Author Swipe
View article: Contribution of brain intrinsic branched-chain amino acid metabolism in a novel mouse model of maple syrup urine disease
Contribution of brain intrinsic branched-chain amino acid metabolism in a novel mouse model of maple syrup urine disease Open
Summary Maple syrup urine disease (MSUD) results from loss of branched-chain ketoacid dehydrogenase (BCKDH) activity, the committed, rate-limiting step of branched-chain amino acid (BCAA) oxidation. Current treatments, including a low prot…
View article: IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency
IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency Open
Metabolic dysregulation is one of the most common causes of pediatric neurodegenerative disorders. However, how the disruption of ubiquitous and essential metabolic pathways predominantly affect neural tissue remains unclear. Here we use m…
View article: Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency
Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency Open
Branched chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a recently described inherited neurometabolic disorder of branched chain amino acid (BCAA) metabolism implying increased BCAA catabolism. It has been hypothesized that a se…
View article: Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency
Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency Open
Branched chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a recently described inherited neurometabolic disorder of branched chain amino acid (BCAA) metabolism implying increased BCAA catabolism. It has been hypothesized that a se…