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Materiały

Numerowana lista źródeł

W skróciePełna, ponumerowana lista opublikowanych źródeł, na których opierają się wszystkie przypisy w serwisie. Opisy źródeł zostawiam w oryginalnym brzmieniu, po angielsku.

Numery 73 i 82 celowo pominęłam: w październiku 2026 r. usunęłam te dwa źródła, a ich numerów nie używam ponownie.

  1. 1.Orphanet (INSERM). “Autosomal dominant Charcot-Marie-Tooth disease type 2C,” ORPHA:99937, last update 1 July 2026. orpha.net
  2. 2.Hereditary Neuropathy Foundation / CureCMT. “CMT2C: TRPV4” subtype page. curecmt.org
  3. 3.Kosmanopoulos GP, Donohue JK, Hoke M, et al.; Inherited Neuropathies Consortium. “TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.” Brain 2025;148(1):238-251 (online 2024). DOI 10.1093/brain/awae201. academic.oup.com Bezpłatny pełny tekst: pmc.ncbi.nlm.nih.gov
  4. 4.Actio Biosciences. “Programs” (company web page, undated; accessed 4 October 2026). actiobiosciences.com
  5. 5.Burns J, Timmerman V, Laurá M, Yiu EM, D'Antonio M, Mukherjee-Clavin B, De Winter J, Scherer SS. “Charcot-Marie-Tooth disease and related neuropathies.” Nature Reviews Disease Primers 2026;12:3. DOI 10.1038/s41572-025-00679-2. nature.com
  6. 6.McCray BA, Schindler A, Hoover-Fong JE, Sumner CJ. “Autosomal Dominant TRPV4-Related Disorders.” GeneReviews, NCBI Bookshelf NBK201366. First posted 2014; last update 4 December 2025. PMID 24830047. ncbi.nlm.nih.gov
  7. 7.Johns Hopkins Technology Ventures. “Meet the Innovator: Charlotte Sumner, MD.” 17 April 2024. ventures.jhu.edu
  8. 8.CMT Research Foundation. 2026 Global CMT Research Convention website. cmtconvention.cmtrf.org
  9. 9.MedlinePlus Genetics (US National Library of Medicine). “Charcot-Marie-Tooth disease,” last updated 8 May 2026. medlineplus.gov
  10. 10.Landouré G, Zdebik AA, Martinez TL, et al. “Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.” Nature Genetics 2010;42:170-174. DOI 10.1038/ng.512. PMID 20037586. nature.com
  11. 11.Klein CJ, et al. “The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders.” Neurology 2003;60(7):1151-6 (citation identified by title only). neurology.org
  12. 12.Auer-Grumbach M, Olschewski A, Papić L, et al. “Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.” Nature Genetics 2010;42:160-164. DOI 10.1038/ng.508. PMID 20037588. nature.com
  13. 13.Dyck PJ, et al. “Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis.” Annals of Neurology 1994 (citation identified by title only). onlinelibrary.wiley.com
  14. 14.Deng H-X, Klein CJ, Yan J, et al. “Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.” Nature Genetics 2010;42:165-169. DOI 10.1038/ng.509. nature.com
  15. 15.Sullivan JM, Bagnell AM, Alevy J, et al. “Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice.” Science Translational Medicine 2024;16(748):eadk1358. DOI 10.1126/scitranslmed.adk1358. PMID 38776392. PMCID PMC11316273. science.org Streszczenie: pure.johnshopkins.edu
  16. 16.Actio Biosciences. “Actio Biosciences Announces First Participant Dosed in Phase 1 Clinical Trial of ABS-0871, a Novel TRPV4 Inhibitor for the Treatment of Charcot-Marie-Tooth Disease 2C.” Press release, 3 March 2025. actiobiosciences.com
  17. 17.Zimoń M, Baets J, Auer-Grumbach M, Berciano J, et al. “Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.” Brain 2010;133(6):1798-1809. DOI 10.1093/brain/awq109. academic.oup.com
  18. 18.Deng S, Feely SME, Shi Y, et al. “Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.” NeuroMolecular Medicine 2020;22:68-72. DOI 10.1007/s12017-019-08564-4. link.springer.com
  19. 19.Sullivan JM, Landouré G, Gaudet R, Sumner CJ; with authors' reply. Correspondence on “Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.” Neurology 2014;83(21):1991. PMID 25404646. pmc.ncbi.nlm.nih.gov
  20. 20.Lee AJ, Kanwal S, Awasthi M, Choi BO, Chung KW. “De novo somatic mosaicisms of INF2 and TRPV4 in patients with Charcot-Marie-Tooth disease.” Genes & Genomics 2025. DOI 10.1007/s13258-025-01643-w. PMID 40257654. link.springer.com
  21. 21.Institut de Myologie. “A natural history of TRPV4-related hereditary neuropathies” (summary of the registry paper), 4 September 2024. institut-myologie.org
  22. 22.Berth SH, Vo L, Kwon DH, et al. “Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants.” Brain 2025;148(2):564-579. DOI 10.1093/brain/awae243. PMID 39021275. academic.oup.com
  23. 23.Nilius B, Voets T. “The puzzle of TRPV4 channelopathies.” EMBO Reports 2013;14(2):152-163. DOI 10.1038/embor.2012.219. link.springer.com
  24. 24.McCray BA, Diehl E, Sullivan JM, et al. “Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension.” Nature Communications 2021;12:1444. DOI 10.1038/s41467-021-21699-y. nature.com
  25. 25.Kwon DH, Zhang F, McCray BA, et al. “TRPV4-Rho GTPase complex structures reveal mechanisms of gating and disease.” Nature Communications 2023;14:3732. DOI 10.1038/s41467-023-39345-0. nature.com
  26. 26.Woolums BM, McCray BA, Sung H, et al. “TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2+.” Nature Communications 2020;11:2679. DOI 10.1038/s41467-020-16411-5. nature.com
  27. 27.Zhang F, Mehta H, Choudhary HH, Islam R, Hanafy KA. “TRPV4 Channel in Neurological Disease: from Molecular Mechanisms to Therapeutic Potential.” Molecular Neurobiology 2025;62(3):3877-3891 (online 28 September 2024). DOI 10.1007/s12035-024-04518-5. link.springer.com
  28. 28.Taga A, Peyton MA, et al. “TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function.” Annals of Clinical and Translational Neurology 2022. DOI 10.1002/acn3.51523 (title-level only; full text not read by researchers). onlinelibrary.wiley.com
  29. 29.Sampaio G, Ismaili T, Torkamani A, et al. “The impact of TRPV4 pathogenic mutations on barrier integrity.” Human Molecular Genetics 2025;34(9):806-820. DOI 10.1093/hmg/ddaf023 (industry study; authors affiliated with Actio Biosciences). academic.oup.com
  30. 30.NIH grant abstract R01-NS115475 (Sumner CJ). “TRPV4 links the blood-neural barrier to motor neuron dysfunction” (not peer reviewed). grantome.com
  31. 31.Coleman MP, Höke A. “Programmed axon degeneration: from mouse to mechanism to medicine.” Nature Reviews Neuroscience 2020;21(4):183-196. DOI 10.1038/s41583-020-0269-3. PMID 32152523. pubmed.ncbi.nlm.nih.gov
  32. 32.McGuinness HY, Gu W, Shi Y, Kobe B, Ve T. “SARM1-Dependent Axon Degeneration: Nucleotide Signaling, Neurodegenerative Disorders, Toxicity, and Therapeutic Opportunities.” The Neuroscientist 2024. DOI 10.1177/10738584231162508. journals.sagepub.com
  33. 33.Liedtke W. “25+ Years of TRPV4: From Discovery to Translational Horizons.” Preprint, Research Square, June 2026 (not peer reviewed). DOI 10.21203/rs.3.rs-10022857/v1. pmc.ncbi.nlm.nih.gov
  34. 34.CMT Research Foundation. “CMT Clinical Trials” tracker (accessed 4 October 2026). cmtrf.org
  35. 35.Charcot-Marie-Tooth Association. “Neurotoxic Medications” (updated July 2023; accessed 4 October 2026). cmtausa.org
  36. 36.Cavaletti G, Forsey K, Alberti P. “Toxic medications in Charcot-Marie-Tooth patients: A systematic review.” Journal of the Peripheral Nervous System 2023;28(3):295-307. DOI 10.1111/jns.12566. PMID 37249082. pubmed.ncbi.nlm.nih.gov Pełny tekst na stronie CMTA: cmtausa.org
  37. 37.Jazz Pharmaceuticals. “Jazz Pharmaceuticals to Acquire Actio Biosciences, Expanding Rare Epilepsy Portfolio.” Press release, 10 August 2026. investor.jazzpharma.com
  38. 38.Actio Biosciences. Press release index, listing “Jazz Pharmaceuticals Completes Acquisition of Actio Biosciences,” 15 September 2026 (accessed 4 October 2026). actiobiosciences.com
  39. 39.Charcot-Marie-Tooth Association. “How the CMT2C Community Is Driving the Path to Treatment.” 22 June 2023. cmtausa.org
  40. 40.Actio Biosciences. “Actio Biosciences Receives Orphan Drug and Rare Pediatric Disease Designations for ABS-0871 for the Treatment of Charcot-Marie-Tooth Disease 2C.” Press release, 8 August 2024. actiobiosciences.com
  41. 41.CMT Research Foundation. “Actio Biosciences Receives Both Orphan Drug and Rare Pediatric Disease Designations from the FDA for Treatment of CMT2C.” News, 9 August 2024. cmtrf.org
  42. 42.Actio Biosciences. “Actio Biosciences Secures $66 Million Series B Financing to Advance Genetics-Driven Pipeline of Small Molecule Therapeutics for Rare and Common Diseases.” Press release, 18 June 2025. actiobiosciences.com
  43. 43.US Food and Drug Administration. “Expanded Access: Information for Patients.” Last updated 7 November 2022. fda.gov
  44. 44.Actio Biosciences. ActioTrials.com (accessed 4 October 2026). actiotrials.com
  45. 45.NMD Pharma. Topline results of the SYNAPSE-CMT Phase 2a trial of ignaseclant (NMD670). Press release, 3 February 2026. nmdpharma.com
  46. 46.NMD Pharma. Late-breaking oral presentation of SYNAPSE-CMT data at the 2026 Peripheral Nerve Society meeting. Press release, 17 June 2026. nmdpharma.com
  47. 47.Charcot-Marie-Tooth Association. “Augustine Therapeutics Begins New CMT Trial” (about 30 May 2025). cmtausa.org
  48. 48.C&EN (Chemical & Engineering News). “SARM1 inhibitors enter clinical trials for ALS, neuropathy.” 23 June 2026 (title-level only). cen.acs.org
  49. 49.Goyal N, et al. “Clinical Pharmacokinetics, Safety, and Tolerability of a Novel, First-in-Class TRPV4 Ion Channel Inhibitor, GSK2798745, in Healthy and Heart Failure Subjects.” American Journal of Cardiovascular Drugs 2019;19:335-342. DOI 10.1007/s40256-018-00320-6. PMID 30637626. link.springer.com
  50. 50.Stewart GM, et al. “Targeting pulmonary capillary permeability to reduce lung congestion in heart failure: a randomized, controlled pilot trial.” European Journal of Heart Failure 2020. DOI 10.1002/ejhf.1809. onlinelibrary.wiley.com
  51. 51.Ludbrook VJ, Hanrott KE, et al. “Adaptive study design to assess effect of TRPV4 inhibition in patients with chronic cough.” ERJ Open Research 2021;7(3):00269-2021. DOI 10.1183/23120541.00269-2021. publications.ersnet.org
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  54. 54.Charcot-Marie-Tooth Association. “Patients as Partners in Research.” cmtausa.org
  55. 55.Hereditary Neuropathy Foundation / CureCMT. “GRIN: Global Registry for Inherited Neuropathies.” curecmt.org
  56. 56.Leale I, Di Stefano V, Costanza C, Brighina F, Roccella M, Palma A, Battaglia G. “Telecoaching: a potential new training model for Charcot-Marie-Tooth patients: a systematic review” (7 studies, 170 patients). Frontiers in Neurology 2024;15:1359091. DOI 10.3389/fneur.2024.1359091. frontiersin.org
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  58. 58.NIH Office of Dietary Supplements. “Vitamin B6: Fact Sheet for Health Professionals.” ods.od.nih.gov
  59. 59.Loprinzi CL, Lacchetti C, Bleeker J, et al. “Prevention and Management of Chemotherapy-Induced Peripheral Neuropathy in Survivors of Adult Cancers: ASCO Guideline Update.” Journal of Clinical Oncology 2020;38(28):3325-3348. DOI 10.1200/JCO.20.01399. ascopubs.org
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  61. 61.University of Sydney. News release on the pediatric resistance exercise trial in CMT, 17 July 2017. sydney.edu.au
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