Laura Ohl

Contribution of brain intrinsic branched-chain amino acid metabolismin a novel mouse model of maple syrup urine disease

This study develops a brain-specific MSUD mouse model to investigate the role of brain-intrinsic BCAA metabolism in chronic neurologic disease, finding elevated BCAA levels and functional deficits.

A Novel Human TBCK- Neuronal Cell Model Results in Severe Neurodegeneration and Partial Rescue with Mitochondrial Fission Inhibition

The paper establishes a human cell model for TBCK syndrome, showing mitochondrial dysfunction and partial rescue with a fission inhibitor.

IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency

This study shows that IMPDH2 filaments protect neurons from degeneration in AMPD2 deficiency by preventing GTP deprivation.

Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency

This study challenges the assumption that BCAA supplementation benefits BCKDK deficiency by showing it worsens neurodevelopmental issues in a mouse model.