S. M. Houten

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.

A mitochondrial long-chain fatty acid oxidation defect leads to uncharged tRNA accumulation and activation of the integrated stress response in the mouse heart

Deficiency of peroxisomal L-bifunctional protein (EHHADH) causes male-specific kidney hypertrophy and proximal tubular injury in mice

This study shows that EHHADH deficiency in mice causes male-specific kidney hypertrophy and proximal tubular injury, linked to androgen effects on peroxisomal metabolism.

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.