News archive for The Department of Biomedicine

Martinez and collaborators are developing a pharmacological chaperone therapy for acute intermittent porphyria

We have established a new method to use Positron emission tomography CT (PET CT) to evaluate Glomerular Filtration Rate (GFR) in rats. GFR is a pivotal parameter for kidney function. The traditional method to evaluate GFR is cumbersome with several time-points for blood and urine sampling. Imaging modalities are ideal to evaluate small animal kidney function due to the non-invasive and repeatable... Read more

N-terminal acetylation is a very common protein modification and NAA10 is the major responsible enzyme in human cells. Here we found a novel pathological NAA10 variant, NAA10 p. (R83H), in two boys with developmental delay and intellectual disabilities.

The structure of full-length phenylalanine hydroxylase in complex with the cofactor BH4 is presented in the most recent issue of PNAS. As the cofactor is also used as a therapy for PKU, this structure is of medical importance.

Cancer is a complex disease caused by a multitude of factors gone wrong in the cell. NAA10 may be one such factor. This is a protein that performs many different tasks, including the most common which is catalyzing the acetylation of cellular proteins. NAA10 can therefore be viewed as a ”Jack of all trades”-protein. For two decades it has been linked to cancer progression, but recent data puts... Read more

Attention-deficit/hyperactivity disorder and autoimmune diseases: etiological relationships and therapeutic possibilities

One long-standing question in myelin biochemistry was solved, as a new binding partner specific for the large isoform of MAG was identified.