@article{IoakeimidisOttKozjakPavlovicetal.2014,
  author    = {Ioakeimidis, Fotis and Ott, Christine and Kozjak-Pavlovic, Vera and Violitzi, Foteini and Rinotas, Vagelis and Makrinou, Eleni and Eliopoulos, Elias and Fasseas, Costas and Kollias, George and Douni, Eleni},
  title     = {A Splicing Mutation in the Novel Mitochondrial Protein DNAJC11 Causes Motor Neuron Pathology Associated with Cristae Disorganization, and Lymphoid Abnormalities in Mice},
  series = {PLOS ONE},
  volume    = {9},
  journal   = {PLOS ONE},
  number    = {8},
  doi       = {10.1371/journal.pone.0104237},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-115581},
  pages     = {e104237},
  year      = {2014},
  abstract  = {Mitochondrial structure and function is emerging as a major contributor to neuromuscular disease, highlighting the need for the complete elucidation of the underlying molecular and pathophysiological mechanisms. Following a forward genetics approach with N-ethyl-N-nitrosourea (ENU)-mediated random mutagenesis, we identified a novel mouse model of autosomal recessive neuromuscular disease caused by a splice-site hypomorphic mutation in a novel gene of unknown function, DnaJC11. Recent findings have demonstrated that DNAJC11 protein co-immunoprecipitates with proteins of the mitochondrial contact site (MICOS) complex involved in the formation of mitochondrial cristae and cristae junctions. Homozygous mutant mice developed locomotion defects, muscle weakness, spasticity, limb tremor, leucopenia, thymic and splenic hypoplasia, general wasting and early lethality. Neuropathological analysis showed severe vacuolation of the motor neurons in the spinal cord, originating from dilatations of the endoplasmic reticulum and notably from mitochondria that had lost their proper inner membrane organization. The causal role of the identified mutation in DnaJC11 was verified in rescue experiments by overexpressing the human ortholog. The full length 63 kDa isoform of human DNAJC11 was shown to localize in the periphery of the mitochondrial outer membrane whereas putative additional isoforms displayed differential submitochondrial localization. Moreover, we showed that DNAJC11 is assembled in a high molecular weight complex, similarly to mitofilin and that downregulation of mitofilin or SAM50 affected the levels of DNAJC11 in HeLa cells. Our findings provide the first mouse mutant for a putative MICOS protein and establish a link between DNAJC11 and neuromuscular diseases.},
  language  = {en}
}
@article{SchubertHagedornYoshiietal.2018,
  author    = {Schubert, Frank K. and Hagedorn, Nicolas and Yoshii, Taishi and Helfrich-F{\"o}rster, Charlotte and Rieger, Dirk},
  title     = {Neuroanatomical details of the lateral neurons of Drosophila melanogaster support their functional role in the circadian system},
  series = {Journal of Comparative Neurology},
  volume    = {526},
  journal   = {Journal of Comparative Neurology},
  doi       = {10.1002/cne.24406},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-234477},
  pages     = {1209-1231},
  year      = {2018},
  abstract  = {Drosophila melanogaster is a long-standing model organism in the circadian clock research. A major advantage is the relative small number of about 150 neurons, which built the circadian clock in Drosophila. In our recent work, we focused on the neuroanatomical properties of the lateral neurons of the clock network. By applying the multicolor-labeling technique Flybow we were able to identify the anatomical similarity of the previously described E2 subunit of the evening oscillator of the clock, which is built by the 5th small ventrolateral neuron (5th s-LNv) and one ITP positive dorsolateral neuron (LNd). These two clock neurons share the same spatial and functional properties. We found both neurons innervating the same brain areas with similar pre- and postsynaptic sites in the brain. Here the anatomical findings support their shared function as a main evening oscillator in the clock network like also found in previous studies. A second quite surprising finding addresses the large lateral ventral PDF-neurons (l-LNvs). We could show that the four hardly distinguishable l-LNvs consist of two subgroups with different innervation patterns. While three of the neurons reflect the well-known branching pattern reproduced by PDF immunohistochemistry, one neuron per brain hemisphere has a distinguished innervation profile and is restricted only to the proximal part of the medulla-surface. We named this neuron "extra" l-LNv (l-LNvx). We suggest the anatomical findings reflect different functional properties of the two l-LNv subgroups.},
  language  = {en}
}