Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Hofer, G.
Mutations of specific neuroligins and their implications for autism spectrum disorders
Humanmedizin; [ Diplomarbeit ] Graz Medical University; 2016. pp. 55
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- Autor*innen der Med Uni Graz:
- Betreuer*innen:
- Lafer Ingrid
- Petek Erwin
- Altmetrics:
- Abstract:
- Autism spectrum disorders (ASDs) are highly complex and heterogenic, both in their symptoms and in their genetics. Utilizing mainly the PubMed research portal, I compiled this literature research to create a comprehensive source concerning the neuroligin genes and proteins as pertaining to ASDs. I found and focussed on 18 publications that investigated mutations in the relevant genes in ASD patients. This work tries to align and explain the very different results of these publications on a (population) genetic and pathophysiological level. It appears that neuroligin mutations are definitely relevant to a portion of ASD cases, however, they are not obligatorily pathogenetic. It is just as apparent that further research on many levels is still necessary.