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Swanhild Lohse

As seen in: Wiley Online Library, BioRxiv
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Articles

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

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By Mareike Selig, Swanhild Lohse, Nils Hartmann, Sara Elahi
| Wiley Online Library Verified
ACMG American College of Medical Genetics and Genomics AF Allele frequency FFPE formalin fixed paraffin embedded GAP GTPase-activating protein GRD GTPase-related domain MPNST malignant peripheral nerve sheath tumors MTB molecular tumor board NF Neurofibromatosis NF1 Neurofibromatosis type 1 NGS Next-generation sequencing RAS Rat Sarcoma viral oncogene Neurofibromatosis type 1 (NF1, OMIM 16220) is an autosomal dominant tumor predisposition syndrome affecting all cells of the body.
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Structural basis of neurofibromin tetramerization and dimer-tetramer equilibrium

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By Katharina Landfester, Shutian Si, Christian Tueting, Swanhild Lohse
| BioRxiv
Abstract Human neurofibromin (NF1) is a tumor suppressor multidomain protein known to regulate cellular functions as a dimer. Using cryo-EM, we discovered that neurofibromin can form more highly organized structures and describe tetramerization and a dynamic dimer-to-tetramer equilibrium with extensive interlocked interfaces as well as structural flexibility.
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