Characterisation of mutations in the dynactin p150 subunit in primary motor neurons
Dissertation
Faculties
Medizinische FakultätAbstract
The dynactin p150 glued 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 2500 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.
Date created
2011
Subject headings
[GND]: Myatrophische Lateralsklerose[MeSH]: Motor neuron disease | Parkinsonian disorders
[Free subject headings]: Dynactin | MND | p150 Subunit | Parkinsonism
[DDC subject group]: DDC 610 / Medicine & health
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Please use this identifier to cite or link to this item: http://dx.doi.org/10.18725/OPARU-2838
Meyer-Ohlendorf, Marie (2013): Characterisation of mutations in the dynactin p150 subunit in primary motor neurons. Open Access Repositorium der Universität Ulm und Technischen Hochschule Ulm. Dissertation. http://dx.doi.org/10.18725/OPARU-2838
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