Modeling C9ORF72 pathomechanisms in patient-derived cells

Erstveröffentlichung
2020-06-29Authors
Semelink-Sedlacek, Lena Luisa
Referee
Böckers, Tobias M.Otto, Markus
Dissertation
Faculties
Medizinische FakultätInstitutions
Institut für Anatomie und ZellbiologieUKU. Klinik für Neurologie
Abstract
Amyotrophic lateral sclerosis (ALS) is the most common motoneuron disease, which is characterized by adult onset of a rapidly progression of the degeneration of the upper and lower motoneurons (MNs). The hexanucleotide repeat expansion of chromosome nine open reading frame 72 (C9ORF72) is the most common mutation in familial and sporadic ALS cases, but the mutation has been sparsely characterised. In vitro cell models of primary rodent MNs or secondary cell systems and some animal models as well as postmortem brain tissue have hitherto been the main model systems in C9-ALS research. However, these model systems are widely restricted in their capacity to capture the full range of human ALS pathogenesis, given the present technical difficulty in the artificial induction of huge repeat expansions. Therefore, we established stem cell-based model systems to study the pathogenesis of ALS in a human-derived, patient-specific setting.
Date created
2016
Subject headings
[GND]: Myatrophische Lateralsklerose | Stammzelle[MeSH]: Amyotrophic lateral sclerosis | C9orf72 protein | Neural stem cells
[DDC subject group]: DDC 570 / Life sciences | DDC 610 / Medicine & health
Metadata
Show full item recordDOI & citation
Please use this identifier to cite or link to this item: http://dx.doi.org/10.18725/OPARU-32206
Semelink-Sedlacek, Lena Luisa (2020): Modeling C9ORF72 pathomechanisms in patient-derived cells. Open Access Repositorium der Universität Ulm und Technischen Hochschule Ulm. Dissertation. http://dx.doi.org/10.18725/OPARU-32206
Citation formatter >