Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence

(2009) Daniele Ghezzi et al.   HUMAN MOLECULAR GENETICS

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Abnormal motor function and dopamine neurotransmission in DYT1 ΔGAG transgenic mice

(2008) Yu Zhao et al.   EXPERIMENTAL NEUROLOGY

Commentary: Dopaminergic dysfunction in DYT1 dystonia

(2008) Thomas Wichmann   EXPERIMENTAL NEUROLOGY

Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope

(2008) L. M. Giles et al.   HUMAN MOLECULAR GENETICS

Glyoxalase II does not support methylglyoxal detoxification but serves as a general trypanothione thioesterase in African trypanosomes

(2008) Alexandra Wendler et al.   MOLECULAR AND BIOCHEMICAL PARASITOLOGY

Consequences of the DYT1 mutation on torsinA oligomerization and degradation

(2008) K.L. Gordon et al.   NEUROSCIENCE