T. Dodatko

Characterization, structure and inhibition of the human succinyl-CoA:glutarate-CoA transferase, a genetic modifier of glutaric aciduria type 1

The paper characterizes the human SUGCT enzyme, determines its structure, and identifies inhibitors that may lead to new treatments for glutaric aciduria type 1.

Acyl-CoA dehydrogenase substrate promiscuity limits the potential for development of substrate reduction therapy in disorders of valine and isoleucine metabolism

This study investigates whether inhibiting ACAD8 and SBCAD can reduce toxic metabolite accumulation in valine and isoleucine metabolism disorders, finding that MCPA inhibits multiple ACADs and partially rescues lipoylation defects in ECHS1-deficient cells.

Characterization and structure of the human lysine-2-oxoglutarate reductase domain, a novel therapeutic target for treatment of glutaric aciduria type 1

The paper characterizes the human LOR domain of AASS, presents its crystal structure, and identifies it as a potential drug target for glutaric aciduria type 1.

Murine deficiency of peroxisomal L-bifunctional protein (EHHADH) causes medium-chain 3-hydroxydicarboxylic aciduria and perturbs hepatic cholesterol homeostasis

This study investigates the role of EHHADH in DCA β-oxidation and its impact on hepatic cholesterol homeostasis in mice, finding that EHHADH deficiency leads to 3-hydroxydicarboxylic aciduria and altered cholesterol synthesis.

Glutaric aciduria type 3 is a naturally occurring biochemical trait in inbred mice of 129 substrains

The paper identifies glutaric aciduria type 3 as a naturally occurring trait in 129 substrain mice due to SUGCT deficiency, showing its impact on metabolite accumulation.

Inhibition and Crystal Structure of the Human DHTKD1-Thiamin Diphosphate Complex

This study identifies DHTKD1 inhibitors and reports its crystal structure with thiamin diphosphate, revealing how mutations affect its function and stability.

DHTKD1 and OGDH display in vivo substrate overlap and form a hybrid ketoacid dehydrogenase complex

The paper shows DHTKD1 and OGDH share in vivo substrate overlap and form a hybrid ketoacid dehydrogenase complex, with implications for GA1 therapy.