Page 37 - Read Online
P. 37

Okaz et al. Rare Dis Orphan Drugs J. 2025;4:24  https://dx.doi.org/10.20517/rdodj.2025.15  Page 9 of 11

               DECLARATIONS
               Authors’ contributions
               Conceptualized the perspective and drafted the manuscript: Okaz E, Vinnakota K
               Drafting and revising of the manuscript: Venkat P, Muñoz E, Baines I
               The manuscript was reviewed and finalized with input from all authors.

               Availability of data and materials
               Not applicable.

               Financial support and sponsorship
               None.

               Conflicts of interest
               All authors declared that there are no conflicts of interest.


               Ethical approval and consent to participate
               Not applicable.


               Consent for publication
               Not applicable.


               Copyright
               © The Author(s) 2025.


               REFERENCES
               1.       Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ. Neurofibromatosis type 1. Nat Rev Dis Primers.
                   2017;3:17004.  DOI
               2.       Lee TJ, Chopra M, Kim RH, Parkin PC, Barnett-Tapia C. Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic
                   review and meta-analysis. Orphanet J Rare Dis. 2023;18:292.  DOI
               3.       Staedtke V, Anstett K, Bedwell D, et al. Gene-targeted therapy for neurofibromatosis and schwannomatosis: the path to clinical trials.
                   Clin Trials. 2024;21:51-66.  DOI  PubMed
               4.       Peduto C, Zanobio M, Nigro V, Perrotta S, Piluso G, Santoro C. Neurofibromatosis type 1: pediatric aspects and review of genotype-
                   phenotype correlations. Cancers. 2023;15:1217.  DOI  PubMed  PMC
                                                                                       +/-
               5.       Yang FC, Ingram DA, Chen S, et al. Nf1-dependent tumors require a microenvironment containing Nf1 - and c-kit-dependent bone
                   marrow. Cell. 2008;135:437-48.  DOI
               6.       Joseph NM, Mosher JT, Buchstaller J, et al. The loss of Nf1 transiently promotes self-renewal but not tumorigenesis by neural crest
                   stem cells. Cancer Cell. 2008;13:129-40.  DOI  PubMed  PMC
               7.       Le LQ, Liu C, Shipman T, Chen Z, Suter U, Parada LF. Susceptible stages in Schwann cells for NF1-associated plexiform
                   neurofibroma development. Cancer Res. 2011;71:4686-95.  DOI  PubMed  PMC
               8.       Kershner  LJ,  Choi  K,  Wu  J,  et  al.  Multiple  Nf1  Schwann  cell  populations  reprogram  the  plexiform  neurofibroma  tumor
                   microenvironment. JCI Insight. 2022:7.  DOI  PubMed  PMC
               9.       Bostanthirige DH, Plante C, Vatasescu JPS, et al. Proof-of-principle of NF1 Gene Therapy in plexiform neurofibroma mice models.
                   bioRxiv 2025;bioRxiv 2025.01.21.634081. Available from: https://www.biorxiv.org/content/10.1101/2025.01.21.634081v1.abstract
                   [accessed 12 August 2025].
               10.      Goto-Silva L, Junqueira M. Single-cell proteomics: a treasure trove in neurobiology. Biochim Biophys Acta Proteins Proteom.
                   2021;1869:140658.  DOI  PubMed
               11.      Wu J, Williams JP, Rizvi TA, et al. Plexiform and dermal neurofibromas and pigmentation are caused by Nf1 loss in desert hedgehog-
                   expressing cells. Cancer Cell. 2008;13:105-16.  DOI  PubMed  PMC
               12.      Jessen WJ, Miller SJ, Jousma E, et al. MEK inhibition exhibits efficacy in human and mouse neurofibromatosis tumors. J Clin Invest.
                   2013;123:340-7.  DOI
               13.      Zhu Y, Ghosh P, Charnay P, Burns DK, Parada LF. Neurofibromas in NF1: Schwann cell origin and role of tumor environment.
                   Science. 2002;296:920-2.  DOI  PubMed  PMC
               14.      Sato T, Vries RG, Snippert HJ, et al. Single Lgr5 stem cells build crypt-villus structures in vitro without a mesenchymal niche. Nature.
                   2009;459:262-5.  DOI
   32   33   34   35   36   37   38   39   40   41   42