Genes for Autism and Intellectual Disabilities

RASopathies
The Ras/MAPK intracellular signaling pathway is fundamental for the regulation of neuronal development and function and RASopathy-inducing germline mutations are associated with varying degrees of neurocognitive impairment and autism. In turn, alterations in this pathway have been reported in mouse models of intellectual disabilities and autism spectrum disorders. However, the precise neuronal mechanisms underlying the neurocognitive and behavioral disturbances in RASopathies are still far from being understood. We investigate the effects of specific gain-of-function mutations in the RAS/MAPK pathway on neuronal network functions and control of behavior.

The Image shows a labelling neuronal fibres in the hippocampus, a key structure for learning and memory. We investigate how the formation of fibres and proper connections between cells is disturbed in RASopathy models.

 

Selected Publications

Altmüller F, Pothula S, Annamneedi A, Nakhaei-Rad S, Montenegro-Venegas C, Pina-Fernández E, Marini C, Santos M, Schanze D, Montag D, Ahmadian MR, Stork O, Zenker M, Fejtova A. Aberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy. PLoS Genet. 2017 Mar;13(3):e1006684. Correction: 2017 Jun;13(6):e1006843.

 

Funding

BMBF Network GeNeRARe, subproject 2: Neurobiology and neurocognitive function in mouse models of RASopathies

PI: Prof. Dr. Oliver Stork, Prof. Dr. Anna Fejtova (Erlangen)

Researcher: M.Sc. Yunus Emre Demiray