% Bibliography for hypothesis h-4fabd9ce
% Title: Cryptic Exon Silencing Restoration
% Generated: 2026-04-28T13:52:28Z

@article{pmid41521669,
  title = {Maternal TDP43 orchestrates nuclear speckle assembly and zygotic splicing activation during oocyte-to-embryo transition in mice.},
  author = {["Deng Z", "Jiang Z", "Wu Y", "Wu Y", "Zhang H", "Chen L", "Li Z", "Liu L", "Yu Fan H"]},
  journal = {Nucleic acids research},
  year = {2026},
  pmid = {41521669},
  doi = {10.1093/nar/gkaf1469},
}

@article{pmid41540015,
  title = {Antisense oligonucleotide targeting TARDBP-EGFR splicing axis inhibits progression of oral squamous cell carcinoma through ABCA1-regulated cholesterol efflux.},
  author = {Ni N, Wang M, Yuan Z, Zhang L, Cai J, Du Q, Li P, Gao C, Zhang H, Li Y, Yuan H},
  journal = {International journal of oral science},
  year = {2026},
  pmid = {41540015},
  doi = {10.1038/s41368-025-00402-7},
  url = {https://pubmed.ncbi.nlm.nih.gov/41540015/},
}

@article{pmid41570741,
  title = {ALS-related proteinopathies: From TDP-43 to mitochondrial proteinopathies.},
  author = {Genin EC, Paquis-Flucklinger V},
  journal = {Current opinion in neurobiology},
  year = {2026},
  pmid = {41570741},
  doi = {10.1016/j.conb.2025.103163},
  url = {https://pubmed.ncbi.nlm.nih.gov/41570741/},
}

@article{pmid41612503,
  title = {Diagnostic potential of cryptic exon-derived peptides in serum extracellular vesicles for sporadic amyotrophic lateral sclerosis.},
  author = {["Takahashi K", "Kato C", "Ueda K", "Nakamura S", "Ozawa F", "Moritoki N", "Shibata S", "Takahashi S", "Morimoto S", "Okano H"]},
  journal = {Inflammation and regeneration},
  year = {2026},
  pmid = {41612503},
  doi = {10.1186/s41232-026-00404-w},
}

@article{pmid41671402,
  title = {Versatile CRISPR-Cas Tools for Gene Regulation in Zebrafish via an Enhanced Q Binary System.},
  author = {["Shi M", "Ge W", "Li C", "Liu B", "Deng X", "Liu C", "Zheng M", "Zhang P", "Li L", "Guo Y"]},
  journal = {Advanced science (Weinheim, Baden-Wurttemberg, Germany)},
  year = {2026},
  pmid = {41671402},
  doi = {10.1002/advs.202511485},
}

@article{pmid41720774,
  title = {A neurotoxic cryptic peptide arising from TDP-43-dependent cryptic splicing of PKN1.},
  author = {["Yang M", "Wang Q", "Yan R", "Kang D", "Luo W", "Zhang L", "Liu R", "Wu L", "Gu J", "Wang X"]},
  journal = {Nature communications},
  year = {2026},
  pmid = {41720774},
  doi = {10.1038/s41467-026-68916-0},
}

@article{pmid41751955,
  title = {PPAR-Delta Agonist Therapies Did Not Rescue Hallmark Disease Phenotypes in Two Sets of Preclinical Trials in ALS TDP-43 and C9orf72 Model Mice.},
  author = {["Luong D", "Niu C", "Kim E", "Tanji N", "Duong I", "Galero B", "Zhang Y", "Bennett C", "La Spada A"]},
  journal = {International journal of molecular sciences},
  year = {2026},
  pmid = {41751955},
  doi = {10.3390/ijms27041820},
}

@article{pmid41789476,
  title = {Transcriptomic signature of frontotemporal lobar degeneration with TDP-43 type C pathology.},
  author = {["Rajicic A", "Mol M", "Melhem S", "Kisic H", "van Swieten J", "Seelaar H", "van Rooij J"]},
  journal = {Brain : a journal of neurology},
  year = {2026},
  pmid = {41789476},
  doi = {10.1093/brain/awag085},
}

@article{pmid41803120,
  title = {Multi-modal dissection of cell-type specific TDP-43 pathology in the motor cortex.},
  author = {Ruf WP, Kühlwein JK, Meier L, Brockmann SJ, LeeBae J, Sadri-Vakili G, Yilmazer-Hanke D, Petri S, Thal DR, Grozdanov V, Danzer KM},
  journal = {Nature communications},
  year = {2026},
  pmid = {41803120},
  doi = {10.1038/s41467-026-69944-6},
  url = {https://pubmed.ncbi.nlm.nih.gov/41803120/},
}

@article{pmid41827903,
  title = {Role of Alpha-Synuclein in Frontotemporal Dementia: Narrative Review.},
  author = {Bougea A},
  journal = {Cells},
  year = {2026},
  pmid = {41827903},
  doi = {10.3390/cells15050470},
  url = {https://pubmed.ncbi.nlm.nih.gov/41827903/},
}

@article{pmid41837283,
  title = {Splicing the narrative: alternative TARDBP splicing and its relation to neurodegeneration in ALS and FTD.},
  author = {Miller MR, Dykstra M, Barmada S},
  journal = {The Journal of clinical investigation},
  year = {2026},
  pmid = {41837283},
  doi = {10.1172/JCI199846},
  url = {https://pubmed.ncbi.nlm.nih.gov/41837283/},
}

@article{pmid41838122,
  title = {TDP-43 impairs glycolysis by sequestering hexokinase 1 in amyotrophic lateral sclerosis.},
  author = {Barone C, Wang R, Cooke S, Ng HP, Ferreira RS, Miranda HC, Qi X},
  journal = {Acta neuropathologica},
  year = {2026},
  pmid = {41838122},
  doi = {10.1007/s00401-026-02996-6},
  url = {https://pubmed.ncbi.nlm.nih.gov/41838122/},
}

@article{pmid41875078,
  title = {A quantitative cell-based reporter links TDP-43 aggregation and dysfunction to define pathogenic mechanisms.},
  author = {Mamede LD, Hu M, Vaquer-Alicea J, Titus AR, Passos PM, Lantelme E, French RL, Kirschner PA, Diamond MI, Miller TM, Ayala YM},
  journal = {PLoS biology},
  year = {2026},
  pmid = {41875078},
  doi = {10.1371/journal.pbio.3003662},
  url = {https://pubmed.ncbi.nlm.nih.gov/41875078/},
}

@article{pmid41883703,
  title = {The Genetics of TDP-43 Type C Neurodegeneration: A Whole-Genome Sequencing Study and Literature Review.},
  author = {Nassan M, Ayala I, Sloan J, Bonfitto A, Stark B, Song S, Naymik M, Geula C, Gefen T, Barbieri E, Piras I, Mesulam MM, Huentelman M},
  journal = {Neurology. Genetics},
  year = {2026},
  pmid = {41883703},
  doi = {10.1212/NXG.0000000000200369},
  url = {https://pubmed.ncbi.nlm.nih.gov/41883703/},
}

@article{pmid41890274,
  title = {Excitotoxicity in amyotrophic lateral sclerosis: a key pathogenic mechanism.},
  author = {Silva-Hucha S, Hernández RG, Baena-López D, Fernández de Sevilla ME, Paradas C, Morcuende S},
  journal = {Brain communications},
  year = {2026},
  pmid = {41890274},
  doi = {10.1093/braincomms/fcag098},
  url = {https://pubmed.ncbi.nlm.nih.gov/41890274/},
}

@article{pmid41890591,
  title = {Axonal transport impairment as an upstream mechanism in amyotrophic lateral sclerosis pathogenesis.},
  author = {Gabbay U},
  journal = {Frontiers in neuroscience},
  year = {2026},
  pmid = {41890591},
  doi = {10.3389/fnins.2026.1802313},
  url = {https://pubmed.ncbi.nlm.nih.gov/41890591/},
}

@article{pmid41897327,
  title = {Selective Silencing of TDP-43 P. G376D Mutation Reverses Key Amyotrophic Lateral Sclerosis-Related Cellular Deficits.},
  author = {Romano R, Ruotolo G, Perrone F, Tomaselli S, Mazzoni M, Spataro R, Conforti FL, Rosati J, Bucci C},
  journal = {Biomolecules},
  year = {2026},
  pmid = {41897327},
  doi = {10.3390/biom16030393},
  url = {https://pubmed.ncbi.nlm.nih.gov/41897327/},
}

@article{pmid41900026,
  title = {Chemical and Molecular Strategies in Restoring Autophagic Flux in TDP-43 Proteinopathy.},
  author = {Jamerlan A, Hulme J},
  journal = {Molecules (Basel, Switzerland)},
  year = {2026},
  pmid = {41900026},
  doi = {10.3390/molecules31060924},
  url = {https://pubmed.ncbi.nlm.nih.gov/41900026/},
}

@article{pmid40362304,
  title = {Targets and Gene Therapy of ALS (Part 1).},
  author = {Shiryaeva O, Tolochko C, Alekseeva T, Dyachuk V},
  journal = {Int J Mol Sci},
  year = {2025},
  pmid = {40362304},
  doi = {10.3390/ijms26094063},
  url = {https://pubmed.ncbi.nlm.nih.gov/40362304},
}

@article{pmid38967083,
  title = {The genetics of amyotrophic lateral sclerosis.},
  author = {Nijs M, Van Damme P},
  journal = {Curr Opin Neurol},
  year = {2024},
  pmid = {38967083},
  doi = {10.1097/WCO.0000000000001294},
  url = {https://pubmed.ncbi.nlm.nih.gov/38967083},
}

@article{pmid38967083,
  title = {The genetics of amyotrophic lateral sclerosis.},
  author = {Nijs M, Van Damme P},
  journal = {Curr Opin Neurol},
  year = {2024},
  pmid = {38967083},
}

@article{pmid39305312,
  title = {TDP-43 regulates LC3ylation in neural tissue through ATG4B cryptic splicing inhibition.},
  author = {Torres P, Rico-Rios S, Ceron-Codorniu M, Santacreu-Vilaseca M, Seoane-Miraz D, Jad Y, Ayala V, Mariño G, Beltran M, Miralles MP},
  journal = {Acta Neuropathol},
  year = {2024},
  pmid = {39305312},
  doi = {10.1007/s00401-024-02780-4},
  url = {https://pubmed.ncbi.nlm.nih.gov/39305312},
}

@article{pmid35197628,
  title = {TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.},
  author = {Brown AL, Wilkins OG, Keuss MJ, Kargbo-Hill SE, Zanovello M, Lee WC, Bampton A, Lee FCY, Masino L, Qi YA},
  journal = {Nature},
  year = {2022},
  pmid = {35197628},
  doi = {10.1038/s41586-022-04436-3},
  url = {https://pubmed.ncbi.nlm.nih.gov/35197628},
}

@article{pmid28405022,
  title = {Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice.},
  author = {Becker LA, Huang B, Bieri G, Ma R, Knowles DA, Jafar-Nejad P, Messing J, Kim HJ, Soriano A, Auburger G},
  journal = {Nature},
  year = {2017},
  pmid = {28405022},
  doi = {10.1038/nature22038},
  url = {https://pubmed.ncbi.nlm.nih.gov/28405022},
}

@article{pmid23755159,
  title = {Credibility analysis of putative disease-causing genes using bioinformatics.},
  author = {["Abel O", "Powell J", "Andersen P", "Al-Chalabi A"]},
  journal = {PloS one},
  year = {2013},
  pmid = {23755159},
  doi = {10.1371/journal.pone.0064899},
}