Lifespan seminar: Finding a novel rasopathy – the Legius syndrome

Event Details

Lifespan seminar: Finding a novel rasopathy – the Legius syndrome

Prof. Eric Legius, MD, PhD, Department of Human Genetics, KU Leuven, Leuven, Belgium

Host: Juha Peltonen

Coffee/tea will be served at 09:15

 

Dr Eric Legius is a clinician scientist. His research is targeted towards Neurofibromatosis type 1 (NF1) and related conditions. His group contributed successfully towards the understanding of the molecular etiology of a number of tumours in NF1. The group was also involved in the characterization of the NF1 microdeletion region and they have been participating in studies on cognition and behavior in NF1. In 2007 his research group identified a new condition resembling neurofibromatosis type 1, now known as Legius syndrome (autosomal dominant condition caused by a heterozygous mutation in SPRED1). The group is using animal models to gain insight in the importance of SPRED and the RAS-MAPK pathway for cognition.

Selected publications

Hirata, Y., Brems, H., Suzuki, M., Kanamori, M., Okada, M., Morita, R., Llano-Rivas, I., Ose, T., Messiaen, L., Legius E, E., Yoshimura, A. (2016). Interaction between a domain of a negative regulator of the RAS-ERK pathway, SPRED1, and the GTPase-Activating Protein-Related Domain of neurofibromin is implicated in Legius Syndrome and Neurofibromatosis Type 1. Journal of Biological Chemistry, 291 (7), art.nr. jbc.M115.703710, 3124-34.

Denayer E, Chmara M, Brems H, Kievit AM, van Bever Y, Van den Ouweland AM, Van Minkelen R, de Goede-Bolder A, Oostenbrink R, Lakeman P, Beert E, Ishizaki T, Mori T, Keymolen K, Van den Ende J, Mangold E, Peltonen S, Brice G, Rankin J, Van Spaendonck-Zwarts KY, Yoshimura A, Legius E. (2011) Legius syndrome in fourteen families. Hum Mutat, 32(1):E1985-98.

Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pederson R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai E, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E. (2009) Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA, 302(19): 2111-2118.

Denayer E, Ahmed T, Brems H, Van Woerden G, Borgesius NZ, Callaerts-Vegh Z, Yoshimura A, Hartmann D, Elgersma Y, D’Hooge R, Legius E, Balschun D. (2008) Spred1 is required for synaptic plasticity and hippocampus-dependent learning. J Neurosci, 28(53):14443-14449.

Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A, Legius E. (2007) Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet, 39(9):1120-1126.

Start: Friday, March 23, 2018 at 09:30

End: Friday, March 23, 2018 at 10:30

Location: Medisiina, room C202, 2nd floor, Kiinamyllynkatu 10, Turku


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