{"doi":"10.1101/2024.09.24.614711","title":"Interactions among Merlin, Arkadia, and SKOR2 mediate NF2-associated Schwann cell proliferation in human","abstract":"Summary NF2-Related Schwannomatosis (previously referred to as Neurofibromatosis Type 2, or NF2) is a genetic-associated disease resulting from mutations in the gene, NF2 . NF2 encodes the merlin protein, which acts as a tumor suppressor. Bilateral vestibular schwannoma (VS) is a hallmark of NF2. Although the exactly molecular mechanism mediating NF2-driven schwannomatosis remain unclear, it is known that defective Merlin protein functionality leads to abnormal cell proliferation. Herein, we utilized a human induced pluripotent stem cell (hiPSC)-based Schwann cell (SC) model to investigate the role of merlin in human SCs. SCs were derived from hiPSCs carrying a NF2 mutation (c.191 T > C; p. L64P), its isogenic wild-type control cell line, and a NF2 patient-derived hiPSC line. NF2 mutant SCs showed abnormal cellular morphology and proliferation. Proteomic analyses identified novel interaction partners for Merlin – Arkadia and SKOR2. Our results established a new model in which merlin interacts with Arkadia and SKOR2 and this interaction is required for the proper activation of the SMAD-dependent pathway in TGFβ signaling.","journal":"bioRxiv (Cold Spring Harbor Laboratory)","year":2024,"id":503799,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9551,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1354044,"name":"Seyoung Um","orcid":null,"position":1,"is_corresponding":false},{"id":1353577,"name":"Anderson B. Mayfield","orcid":"0000-0003-0138-7844","position":2,"is_corresponding":false},{"id":880012,"name":"Olena Bracho","orcid":"0009-0002-2848-8450","position":3,"is_corresponding":false},{"id":730262,"name":"Christian Castillo","orcid":"0000-0001-8710-6745","position":4,"is_corresponding":false},{"id":724800,"name":"Christine T. Dinh","orcid":"0000-0001-8138-1770","position":5,"is_corresponding":false},{"id":392129,"name":"Derek M. Dykxhoorn","orcid":"0000-0002-4998-9943","position":6,"is_corresponding":false},{"id":770373,"name":"Xue Zhong Liu","orcid":"0000-0003-4162-9481","position":7,"is_corresponding":false},{"id":915667,"name":"Pei-Ciao Tang","orcid":"0000-0002-0093-030X","position":0,"is_corresponding":true}],"reference_count":43,"raw_metadata":null,"created_at":"2026-07-19T02:10:31.826282Z","pmid":"39386608","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}