OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation [PDF]
, 2010 The dynamin-related GTPase OPA1 is mutated in autosomal dominant optic atrophy (DOA) (Kjer type), an inherited neuropathy of the retinal ganglion cells.
Alexander +28 more
core +3 more sources
RBR E3 ubiquitin ligases: new structures, new insights, new questions [PDF]
, 2014 The RBR (RING-BetweenRING-RING) or TRIAD [two RING fingers and a DRIL (double RING finger linked)] E3 ubiquitin ligases comprise a group of 12 complex multidomain enzymes.
Shaw, Gary S. +2 more
core +1 more source
Protein & Cell, 2017 Hypertonia is a neurological dysfunction associated with a number of central nervous system disorders, including cerebral palsy, Parkinson’s disease, dystonia, and epilepsy.
Crystal A. Lee, Lih-Shen Chin, Lian Li
doaj +1 more source
Loss of Mfn2 results in progressive, retrograde degeneration of dopaminergic neurons in the nigrostriatal circuit [PDF]
, 2012 Mitochondria continually undergo fusion and fission, and these dynamic processes play a major role in regulating mitochondrial function. Studies of several genes associated with familial Parkinson's disease (PD) have implicated aberrant mitochondrial ...
Chan, David C. +3 more
core +2 more sources
Mitophagy: Mitofusin Recruits a Mitochondrial Killer [PDF]
Current Biology, 2013 Parkin is a cytosolic ubiquitin ligase that translocates to damaged mitochondria and promotes their degradation. Recent work demonstrates that a phosphorylated form of the mitochondrial fusion protein Mitofusin 2 serves as a receptor for Parkin translocation to damaged mitochondria.
openaire +2 more sources
Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy [PDF]
Human Molecular Genetics, 2010 Mitochondrial dysfunction and perturbed degradation of proteins have been implicated in Parkinson's disease (PD) pathogenesis. Mutations in the Parkin and PINK1 genes are a cause of familial PD. PINK1 is a putative kinase associated with mitochondria, and loss of PINK1 expression leads to mitochondrial dysfunction, which increases with time.
Matthew E, Gegg +5 more
openaire +2 more sources
Mitofusin 2 ablation increases endoplasmic reticulum–mitochondria coupling [PDF]
Proceedings of the National Academy of Sciences, 2015 Significance The privileged interrelationship between mitochondria and the endoplasmic reticulum (ER) plays a key role in a variety of physiological functions, from lipid metabolism to Ca 2+ signalling, and its modulation influences apoptotic susceptibility, mitophagy, and ...
Filadi Riccardo +5 more
openaire +3 more sources
A membrane-inserted structural model of the yeast mitofusin Fzo1 [PDF]
, 2017 Mitofusins are large transmembrane GTPases of the dynamin-related protein family, and are required for the tethering and fusion of mitochondrial outer membranes.
A Fiser +78 more
core +4 more sources
Structural basis for membrane tethering by a bacterial dynamin-like pair
Nature Communications, 2018 Dynamin-like proteins (DLPs) such as the mitofusins form homotypic and heterotypic oligomers that bridge and fuse opposing membranes. Here, Liu, Noel and Low present the crystal structure of a bacterial DLP heterotypic pair, providing insights into the ...
Jiwei Liu, Jeffrey K. Noel, Harry H. Low
doaj +1 more source
Double-edged alliance: mitochondrial surveillance by the UPS and autophagy [PDF]
, 2015 Mitochondria provide an essential role in the maintenance of cellular homeostasis with regard to energy generation, redox signaling, and programmed cell death.
Franz, André +2 more
core +1 more source