Medicine

Antisense oligonucleotide therapy in a specific with KIF1A-associated nerve problem

.Kaufmann, P., Pariser, A. R. &amp Austin, C. Coming from medical exploration to treatments for uncommon diseasesu00e2 $" the scenery coming from the National Center for Accelerating Translational Sciencesu00e2 $" Office of Rare Diseases Analysis. Orphanet J. Rare Dis. Thirteen, 196 (2018 ). Articleu00c2.PubMedu00c2.Google Scholaru00c2.Crooke, S. T. A phone call to upper arms versus ultra-rare illness. Nat. Biotechnol. 39, 671u00e2 $ "677 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Vockley, J. et al. The advancing job of medical geneticists in the era of gene treatment: a seriousness to ready. Genet. Medication. 25, 100022 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Kim, J. et cetera. Patient-customized oligonucleotide therapy for an uncommon hereditary illness. N. Engl. J. Med. 381, 1644u00e2 $ "1652 (2019 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Kim, J. et cetera. A structure for individual splice-switching oligonucleotide therapy. Type 619, 828u00e2 $ "836 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Lima, W. F. et cetera. Individual RNase H1 discriminates between subtle variations in the framework of the heteroduplex substratum. Mol. Pharmacol. 71, 83u00e2 $ "91 (2007 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Crooke, S. T., Cook, B. F., Crooke, R. M. &amp Liang, X.-H. Antisense innovation: an outline as well as prospectus. Nat. Rev. Medication Discov. 20, 427u00e2 $ "453 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Lee, J.-R. et al. Afresh mutations in the electric motor domain of KIF1A cause intellectual problems, abnormal paraparesis, axonal neuropathy, and cerebellar atrophy. Hum. Mutat. 36, 69u00e2 $ "78 (2015 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Boyle, L. et cetera. Genotype and also defects in microtubule-based mobility correlate along with professional extent in KIF1A-associated neurological disorder. HGG Adv. 2, 100026 (2021 ). CASu00c2.PubMedu00c2.Google Scholaru00c2.Kondo, M., Takei, Y. &amp Hirokawa, N. Motor healthy protein KIF1A is actually important for hippocampal synaptogenesis and also finding out enlargement in a developed atmosphere. Neuron 73, 743u00e2 $ "757 (2012 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Guo, Y. et al. A rare KIF1A missense anomaly improves synaptic function as well as boosts seizure task. Face. Genet. 11, 61 (2020 ). Articleu00c2.CASu00c2.PubMedu00c2.PubMed Centralu00c2.Google.com Scholaru00c2.Kaur, S. et cetera. Development of the phenotypic range of de novo missense versions in kinesin loved one 1A (KIF1A). Hum. Mutat. 41, 1761u00e2 $ "1774 (2020 ). Articleu00c2.CASu00c2.PubMedu00c2.PubMed Centralu00c2.Google.com Scholaru00c2.Canivez, G. L. &amp McGill, R. J. Factor structure of the Differential Potential Scales-Second Version: exploratory and ordered aspect reviews with the center subtests. Psychol. Analyze. 28, 1475u00e2 $ "1488 (2016 ). Articleu00c2.PubMedu00c2.Google Scholaru00c2.Epstein, A. et cetera. Content validation of the lifestyle inventoryu00e2 $" impairment. Day Care Wellness Dev. Forty five, 654u00e2 $ "659 (2019 ). Articleu00c2.PubMedu00c2.Google Scholaru00c2.Lek, M. et cetera. Study of protein-coding hereditary variety in 60,706 people. Nature 536, 285u00e2 $ "291 (2016 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.IND Submissions for Individualized Antisense Oligonucleotide Medication Products for Badly Incapacitating or even Deadly Health Conditions: Clinical Referrals (US Fda, 2022) https://www.fda.gov/regulatory-information/search-fda-guidance-documents/ind-submissions-individualized-antisense-oligonucleotide-drug-products-severely-debilitating-or-lifeIND Submittings for Customized Antisense Oligonucleotide Medication Products: Management and also Step-by-step Recommendations Support for Sponsor-Investigators (US Food and Drug Administration, 2021) https://www.fda.gov/regulatory-information/search-fda-guidance-documents/ind-submissions-individualized-antisense-oligonucleotide-drug-products-administrative-and-proceduralInvestigational New Drug Treatment Articles for Individualized Antisense Oligonucleotide Medication Products for Severely Debilitating or even Life-Threatening Health Conditions: Chemical Make Up, Manufacturing, as well as Controls Recommendations, Advice for Sponsor-Investigators (United States Fda, 2022) https://www.fda.gov/regulatory-information/search-fda-guidance-documents/investigational-new-drug-application-submissions-individualized-antisense-oligonucleotide-drugNonclinical Screening of Individualized Antisense Oligonucleotide Medicine Products for Badly Exhausting or even Life-Threatening Diseases Guidance for Sponsor-Investigators (United States Food and Drug Administration, 2021) https://www.fda.gov/regulatory-information/search-fda-guidance-documents/nonclinical-testing-individualized-antisense-oligonucleotide-drug-products-severely-debilitating-or.

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