Stockmann, Marianne and Meyer-Ohlendorf, Marie and Achberger, Kevin and Putz, Stefan and Demestre, Maria and Yin, Haishan and Hendrich, Corinna and Linta, Leonhard and Heinrich, Jutta and Brunner, Cornelia and Proepper, Christian and Kuh, Georges F. and Baumann, Bernd and Langer, Torben and Schwalenstoecker, Birgit and Braunstein, Kerstin E. and von Arnim, Christine and Schneuwly, Stephan and Meyer, Thomas and Wong, Philip C. and Boeckers, Tobias M. and Ludolph, Albert C. and Liebau, Stefan (2013) The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian Syndromes. JOURNAL OF NEURAL TRANSMISSION, 120 (5). pp. 785-798. ISSN 0300-9564,
Full text not available from this repository. (Request a copy)Abstract
The dynactin p150glued subunit, encoded by the gene DCTN1 is part of the dynein-dynactin motor protein complex responsible for retrograde axonal transport. This subunit is a candidate modifier for neurodegenerative diseases, in particular motoneuron and extrapyramidal diseases. Based on an extensive screening effort of all 32 exons in more than 2,500 ALS/MND patients, patients suffering from Parkinsonian Syndromes and controls, we investigated 24 sequence variants of p150 in cell-based studies. We used both non-neuronal cell lines and primary rodent spinal motoneurons and report on cell biological abnormalities in five of these sequence alterations and also briefly report on the clinical features. Our results suggest the presence of biological changes caused by some p150 mutants pointing to a potential pathogenetic significance as modifier of the phenotype of the human disease.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | MOTOR-NEURON DISEASE; AXONAL-TRANSPORT; DCTN1 GENE; MISSING HERITABILITY; MUTANT DYNACTIN; G59S MUTATION; STEM-CELLS; PROTEIN; DEGENERATION; PROLIFERATION; Dynactin; p150 subunit; Parkinsonism; ALS; MND |
| Subjects: | 500 Science > 590 Zoological sciences |
| Divisions: | Biology, Preclinical Medicine > Institut für Zoologie > Entwicklungsbiologie (Prof. Dr. Stephan Schneuwly) |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 15 Apr 2020 14:06 |
| Last Modified: | 15 Apr 2020 14:06 |
| URI: | https://pred.uni-regensburg.de/id/eprint/16748 |
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