@article{GalimbertiDell'OssoFenoglioetal.2012,
  author    = {Galimberti, Daniela and Dell'Osso, Bernardo and Fenoglio, Chiara and Villa, Chiara and Cortini, Francesca and Serpente, Maria and Kittel-Schneider, Sarah and Weigl, Johannes and Neuner, Maria and Volkert, Juliane and Leonhard, C. and Olmes, David G. and Kopf, Juliane and Cantoni, Claudia and Ridolfi, Elisa and Palazzo, Carlotta and Ghezzi, Laura and Bresolin, Nereo and Altamura, A.C. and Scarpini, Elio and Reif, Andreas},
  title     = {Progranulin Gene Variability and Plasma Levels in Bipolar Disorder and Schizophrenia},
  series = {PLoS One},
  volume    = {7},
  journal   = {PLoS One},
  number    = {4},
  doi       = {10.1371/journal.pone.0032164},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-131910},
  pages     = {e32164},
  year      = {2012},
  abstract  = {Basing on the assumption that frontotemporal lobar degeneration (FTLD), schizophrenia and bipolar disorder (BPD) might share common aetiological mechanisms, we analyzed genetic variation in the FTLD risk gene progranulin (GRN) in a German population of patients with schizophrenia (n=271) or BPD (n=237) as compared with 574 age-, gender-and ethnicity-matched controls. Furthermore, we measured plasma progranulin levels in 26 German BPD patients as well as in 61 Italian BPD patients and 29 matched controls. A significantly decreased allelic frequency of the minor versus the wild-type allele was observed for rs2879096 (23.2 versus 34.2\%, P<0.001, OR: 0.63, 95\% CI: 0.49-0.80), rs4792938 (30.7 versus 39.7\%, P=0.005, OR: 0.70, 95\% CI: 0.55-0.89) and rs5848 (30.3 versus 36.8, P=0.007, OR: 0.71, 95\% CI: 0.56-0.91). Mean +/- SEM progranulin plasma levels were significantly decreased in BPD patients, either Germans or Italians, as compared with controls (89.69 +/- 3.97 and 116.14 +/- 5.80 ng/ml, respectively, versus 180.81 +/- 18.39 ng/ml P<0.001) and were not correlated with age. In conclusion, GRN variability decreases the risk to develop BPD and schizophrenia, and progranulin plasma levels are significantly lower in BPD patients than in controls. Nevertheless, a larger replication analysis would be needed to confirm these preliminary results.},
  language  = {en}
}
@article{FaragFroehlerOexleetal.2013,
  author    = {Farag, Heba Gamal and Froehler, Sebastian and Oexle, Konrad and Ravindran, Ethiraj and Schindler, Detlev and Staab, Timo and Huebner, Angela and Kraemer, Nadine and Chen, Wei and Kaindl, Angela M.},
  title     = {Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation},
  series = {Orphanet Journal of Rare Diseases},
  volume    = {8},
  journal   = {Orphanet Journal of Rare Diseases},
  number    = {178},
  issn      = {1750-1172},
  doi       = {10.1186/1750-1172-8-178},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-123505},
  year      = {2013},
  abstract  = {Background: Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disease with severe microcephaly at birth due to a pronounced reduction in brain volume and intellectual disability. Biallelic mutations in the WD repeat-containing protein 62 gene WDR62 are the genetic cause of MCPH2. However, the exact underlying pathomechanism of MCPH2 remains to be clarified. Methods/results: We characterized the clinical, radiological, and cellular features that add to the human MCPH2 phenotype. Exome sequencing followed by Sanger sequencing in a German family with two affected daughters with primary microcephaly revealed in the index patient the compound heterozygous mutations c. 1313G>A (p.R438H) / c.2864-2867delACAG (p.D955Afs*112) of WDR62, the second of which is novel. Radiological examination displayed small frontal lobes, corpus callosum hypoplasia, simplified hippocampal gyration, and cerebellar hypoplasia. We investigated the cellular phenotype in patient-derived lymphoblastoid cells and compared it with that of healthy female controls. WDR62 expression in the patient's immortalized lymphocytes was deranged, and mitotic spindle defects as well as abnormal centrosomal protein localization were apparent. Conclusion: We propose that a disruption of centrosome integrity and/or spindle organization may play an important role in the development of microcephaly in MCPH2.},
  language  = {en}
}