Aleksandar Rakovic

TL;DR: The mechanism by which Mfn2, a mitochondria-ER tether, gates the autophagic turnover of mitochondria by PINK1 and parkin is described, which suppresses mitophagy and describes a parkin-/PINK1-dependent mechanism that regulates the destruction of mitochondrial-ER contact sites.

TL;DR: For the first time in PD patient-derived cells, it is demonstrated that mutations in PINK1 and Parkin impair ubiquitination of Mitofusins.

TL;DR: It is demonstrated in human primary fibroblasts and induced pluripotent stem-derived neurons from controls and PINK1 mutation carriers that endogenous levels of Parkin are not sufficient to initiate mitophagy upon loss of the mitochondrial membrane potential, caused by its (self-)ubiquitination, followed by degradation via the ubiquitin proteasome system.

TL;DR: Although mutations in THAP1 might have only a minor role in patients with different, but mainly focal, forms of dystonia, they do seem to be associated with early-onset generalised dySTONia with spasmodic dysphonia.

TL;DR: A study was undertaken to identify the gene underlying DYT4 dySTONia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus in an Australian family.