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For: Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-7. [PMID: 8596916 DOI: 10.1126/science.271.5254.1423] [Citation(s) in RCA: 1929] [Impact Index Per Article: 66.5] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/31/2023]
Number Cited by Other Article(s)
1
Edzeamey FJ, Ramchunder Z, Valle Gómez A, Ge H, Marobbio CMT, Pourzand C, Virmouni SA. Therapeutic combination of L-ascorbic acid, N-acetylcysteine, and dimethyl fumarate in Friedreich's ataxia: insights from in vitro models. Redox Rep 2025;30:2505303. [PMID: 40375363 DOI: 10.1080/13510002.2025.2505303] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 05/18/2025]  Open
2
Salinas L, Figueroa F, Montgomery CB, Thai PN, Chiamvimonvat N, Cortopassi G, Dedkova EN. Omaveloxolone, But Not Dimethyl Fumarate, Improves Cardiac Function in Friedreich's Ataxia Mice With Severe Cardiomyopathy. J Am Heart Assoc 2025;14:e038505. [PMID: 40501183 DOI: 10.1161/jaha.124.038505] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/23/2024] [Accepted: 03/24/2025] [Indexed: 06/19/2025]
3
Jimenez DA, Miller CJ, Walker A, Anupindi K, Hayward BE, Lorenzi HA, Usdin K, Zhao X. Reconciling the effects of PMS2 in different repeat expansion disease models supports a common therapeutic strategy. BIORXIV : THE PREPRINT SERVER FOR BIOLOGY 2025:2024.08.13.607839. [PMID: 39185211 PMCID: PMC11343130 DOI: 10.1101/2024.08.13.607839] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Download PDF] [Subscribe] [Scholar Register] [Indexed: 08/27/2024]
4
Park J, Dufke C, Fleszar Z, Schlotterbek M, Buena-Atienza E, Stühn LG, Gross C, Sturm M, Ossowski S, Schöls L, Riess O, Haack TB. Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats. Int J Mol Sci 2025;26:4969. [PMID: 40507780 PMCID: PMC12154355 DOI: 10.3390/ijms26114969] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/10/2025] [Revised: 05/14/2025] [Accepted: 05/16/2025] [Indexed: 06/16/2025]  Open
5
Saha S, Corben LA, Selvadurai LP, Harding IH, Georgiou-Karistianis N. Predictive machine learning and multimodal data to develop highly sensitive, composite biomarkers of disease progression in Friedreich ataxia. Sci Rep 2025;15:17629. [PMID: 40399385 PMCID: PMC12095658 DOI: 10.1038/s41598-025-01047-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/16/2024] [Accepted: 05/02/2025] [Indexed: 05/23/2025]  Open
6
Visani E, Canafoglia L, Nanetti L, Rossi Sebastiano D, Duran D, Anversa P, Bonfoco D, Dotta S, Tabarelli D, Castaldo A, Marchini G, Mongelli A, Mariotti C. Neuromagnetic responses to multimodal stimuli in Friedreich's ataxia. Clin Neurophysiol 2025;175:2110738. [PMID: 40403493 DOI: 10.1016/j.clinph.2025.2110738] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/11/2024] [Revised: 04/14/2025] [Accepted: 04/23/2025] [Indexed: 05/24/2025]
7
Sureshkumar S, Chhabra A, Guo YL, Balasubramanian S. Simple sequence repeats and their expansions: role in plant development, environmental response and adaptation. THE NEW PHYTOLOGIST 2025. [PMID: 40325839 DOI: 10.1111/nph.70173] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 12/23/2024] [Accepted: 03/28/2025] [Indexed: 05/07/2025]
8
Grant-Bier J, Ruppert K, Hayward B, Usdin K, Kumari D. MSH2 is not required for either maintenance of DNA methylation or repeat contraction at the FMR1 locus in fragile X syndrome or the FXN locus in Friedreich's ataxia. Epigenetics Chromatin 2025;18:24. [PMID: 40296143 PMCID: PMC12036138 DOI: 10.1186/s13072-025-00588-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/20/2024] [Accepted: 04/11/2025] [Indexed: 04/30/2025]  Open
9
Smith FM, Kosman DJ. Brain microvascular endothelial cells differentiated from a Friedreich's Ataxia patient iPSC are deficient in tight junction protein expression and paracellularly permeable. Front Mol Neurosci 2025;18:1511388. [PMID: 40303283 PMCID: PMC12037585 DOI: 10.3389/fnmol.2025.1511388] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/14/2024] [Accepted: 03/19/2025] [Indexed: 05/02/2025]  Open
10
Adam CL, Rocha J, Sudmant P, Rohlfs R. TRACKing tandem repeats: a customizable pipeline for identification and cross-species comparison. BIOINFORMATICS ADVANCES 2025;5:vbaf066. [PMID: 40351869 PMCID: PMC12064168 DOI: 10.1093/bioadv/vbaf066] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 12/12/2024] [Revised: 03/14/2025] [Accepted: 04/07/2025] [Indexed: 05/14/2025]
11
Pellerin D, Méreaux JL, Boluda S, Danzi MC, Dicaire MJ, Davoine CS, Genis D, Spurdens G, Ashton C, Hammond JM, Gerhart BJ, Chelban V, Le PU, Safisamghabadi M, Yanick C, Lee H, Nageshwaran SK, Matos-Rodrigues G, Jaunmuktane Z, Petrecca K, Akbarian S, Nussenzweig A, Usdin K, Renaud M, Bonnet C, Ravenscroft G, Saporta MA, Napierala JS, Houlden H, Deveson IW, Napierala M, Brice A, Molina Porcel L, Seilhean D, Zuchner S, Durr A, Brais B. Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum. Brain 2025;148:1258-1270. [PMID: 39378335 PMCID: PMC11969470 DOI: 10.1093/brain/awae312] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/01/2024] [Revised: 08/21/2024] [Accepted: 09/24/2024] [Indexed: 10/10/2024]  Open
12
Indelicato E, Delatycki MB, Farmer J, França MC, Perlman S, Rai M, Boesch S. A global perspective on research advances and future challenges in Friedreich ataxia. Nat Rev Neurol 2025;21:204-215. [PMID: 40032987 DOI: 10.1038/s41582-025-01065-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 01/29/2025] [Indexed: 03/05/2025]
13
Mercado-Ayón E, Talgo E, Flatley L, Coulman J, Lynch DR. Neurochemical alterations in the cerebellum of Friedreich's Ataxia mouse models. Exp Neurol 2025;386:115176. [PMID: 39904419 DOI: 10.1016/j.expneurol.2025.115176] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/13/2024] [Revised: 01/29/2025] [Accepted: 02/01/2025] [Indexed: 02/06/2025]
14
Li F, Yu J, Wang P, Li T, Tang Q, Zhu J. Bridge RNA-Guided Genetic Recombination Tools for Treating Neurodegenerative Nucleotide Repeat Disorders. Neurosci Bull 2025;41:734-736. [PMID: 39966309 PMCID: PMC11979011 DOI: 10.1007/s12264-025-01358-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/30/2024] [Accepted: 12/06/2024] [Indexed: 02/20/2025]  Open
15
Ben Zichri- David S, Shkuri L, Ast T. Pulling back the mitochondria's iron curtain. NPJ METABOLIC HEALTH AND DISEASE 2025;3:6. [PMID: 40052109 PMCID: PMC11879881 DOI: 10.1038/s44324-024-00045-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Figures] [Subscribe] [Scholar Register] [Received: 08/15/2024] [Accepted: 12/09/2024] [Indexed: 03/09/2025]
16
Montgomery CB, Salinas L, Cox GP, Adcock LE, Chang T, Figueroa F, Cortopassi G, Dedkova EN. Robust behavioral assessment of the inducible Friedreich's ataxia mouse does not show improvement with NRF2 induction. Dis Model Mech 2025;18:dmm052128. [PMID: 40017373 PMCID: PMC11992351 DOI: 10.1242/dmm.052128] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/30/2024] [Accepted: 02/23/2025] [Indexed: 03/01/2025]  Open
17
Jacobi H, Weiler M, Sam G, Heiland S, Hayes JM, Bendszus M, Wick W, Hayes JC. Peripheral Nerve Involvement in Friedreich's Ataxia Characterized by Quantitative Magnetic Resonance Neurography. Eur J Neurol 2025;32:e70121. [PMID: 40130461 PMCID: PMC11933833 DOI: 10.1111/ene.70121] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/28/2025] [Revised: 02/26/2025] [Accepted: 03/06/2025] [Indexed: 03/26/2025]
18
Ercanbrack WS, Ramirez M, Dungan A, Gaul E, Ercanbrack SJ, Wingert RA. Frataxin deficiency and the pathology of Friedreich's Ataxia across tissues. Tissue Barriers 2025:2462357. [PMID: 39981684 DOI: 10.1080/21688370.2025.2462357] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/21/2024] [Revised: 01/08/2025] [Accepted: 01/14/2025] [Indexed: 02/22/2025]  Open
19
Cory SA, Lin CW, Patra S, Havens SM, Putnam CD, Shirzadeh M, Russell DH, Barondeau DP. Frataxin Traps Low Abundance Quaternary Structure to Stimulate Human Fe-S Cluster Biosynthesis. Biochemistry 2025;64:903-916. [PMID: 39909887 PMCID: PMC11840927 DOI: 10.1021/acs.biochem.4c00733] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/30/2024] [Revised: 01/25/2025] [Accepted: 01/30/2025] [Indexed: 02/07/2025]
20
Miller WL, Pandey AV, Flück CE. Disordered Electron Transfer: New Forms of Defective Steroidogenesis and Mitochondriopathy. J Clin Endocrinol Metab 2025;110:e574-e582. [PMID: 39574227 PMCID: PMC11834722 DOI: 10.1210/clinem/dgae815] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/26/2024] [Indexed: 02/19/2025]
21
Joseph DJ, Mercado-Ayon E, Flatley L, Viaene AN, Hordeaux J, Marsh ED, Lynch DR. Functional Characterization of Parallel Fiber-Purkinje Cell Synapses in Two Friedreich's Ataxia Mouse Models. CEREBELLUM (LONDON, ENGLAND) 2025;24:42. [PMID: 39907933 PMCID: PMC11799031 DOI: 10.1007/s12311-025-01796-0] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Accepted: 01/27/2025] [Indexed: 02/06/2025]
22
Lynch DR, Subramony S, Lin KY, Mathews K, Perlman S, Yoon G, Rummey C. Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia. Pediatr Cardiol 2025;46:379-382. [PMID: 38427090 DOI: 10.1007/s00246-024-03429-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/26/2023] [Accepted: 01/23/2024] [Indexed: 03/02/2024]
23
Lynch DR, Shen M, Wilson RB. Friedreich ataxia: what can we learn from non-GAA repeat mutations? Neurodegener Dis Manag 2025;15:17-26. [PMID: 39810561 PMCID: PMC11938963 DOI: 10.1080/17582024.2025.2452147] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/23/2023] [Accepted: 01/08/2025] [Indexed: 01/16/2025]  Open
24
Pandolfo M. Friedreich Ataxia: An (Almost) 30-Year History After Gene Discovery. Neurol Genet 2025;11:e200236. [PMID: 39810753 PMCID: PMC11731367 DOI: 10.1212/nxg.0000000000200236] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/28/2024] [Accepted: 11/26/2024] [Indexed: 01/16/2025]
25
Yang ZF, Jiang XC, Gao JQ. Present insights into the progress in gene therapy delivery systems for central nervous system diseases. Int J Pharm 2025;669:125069. [PMID: 39662855 DOI: 10.1016/j.ijpharm.2024.125069] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/03/2024] [Revised: 12/06/2024] [Accepted: 12/08/2024] [Indexed: 12/13/2024]
26
Pellerin D, Iruzubieta P, Xu IRL, Danzi MC, Cortese A, Synofzik M, Houlden H, Zuchner S, Brais B. Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions. Curr Neurol Neurosci Rep 2025;25:16. [PMID: 39820740 DOI: 10.1007/s11910-024-01400-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 12/04/2024] [Indexed: 01/19/2025]
27
Tranfa M, Costabile T, Pontillo G, Scaravilli A, Pane C, Brunetti A, Saccà F, Cocozza S. Altered Intracerebellar Functional Connectivity in Friedreich's Ataxia: A Graph-Theory Functional MRI Study. CEREBELLUM (LONDON, ENGLAND) 2025;24:30. [PMID: 39808241 PMCID: PMC11732920 DOI: 10.1007/s12311-025-01785-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Accepted: 01/04/2025] [Indexed: 01/16/2025]
28
Wen H, Deng H, Li B, Chen J, Zhu J, Zhang X, Yoshida S, Zhou Y. Mitochondrial diseases: from molecular mechanisms to therapeutic advances. Signal Transduct Target Ther 2025;10:9. [PMID: 39788934 PMCID: PMC11724432 DOI: 10.1038/s41392-024-02044-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/02/2024] [Revised: 09/28/2024] [Accepted: 10/31/2024] [Indexed: 01/12/2025]  Open
29
Livanos I, Votsi C, Michailidou K, Pellerin D, Brais B, Zuchner S, Pantzaris M, Kleopa KA, Zamba Papanicolaou E, Christodoulou K. The FGF14 GAA repeat expansion is a major cause of ataxia in the Cypriot population. Brain Commun 2025;7:fcae479. [PMID: 39801711 PMCID: PMC11724429 DOI: 10.1093/braincomms/fcae479] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/08/2024] [Revised: 11/08/2024] [Accepted: 01/02/2025] [Indexed: 01/16/2025]  Open
30
Marullo C, Croci L, Giupponi I, Rivoletti C, Zuffetti S, Bettegazzi B, Cremona O, Giunti P, Ambrosi A, Casoni F, Consalez GG, Codazzi F. Altered Ca2+ responses and antioxidant properties in Friedreich's ataxia-like cerebellar astrocytes. J Cell Sci 2025;138:jcs263446. [PMID: 39648860 PMCID: PMC11828468 DOI: 10.1242/jcs.263446] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/22/2024] [Accepted: 12/03/2024] [Indexed: 12/10/2024]  Open
31
Sperelakis-Beedham B, Gitiaux C, Rajaoba M, Magen M, Derive N, Chansard J, de Sainte Agathe JM, Maurin ML, Assouline Z, Barnerias C, Desguerre I, Steffann J, Barcia G. Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia. Eur J Hum Genet 2025;33:137-140. [PMID: 39496895 PMCID: PMC11711457 DOI: 10.1038/s41431-024-01728-2] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/15/2024] [Revised: 09/17/2024] [Accepted: 10/27/2024] [Indexed: 11/06/2024]  Open
32
Mukherjee S, Pereboeva L, Fil D, Saikia A, Lee J, Li J, Cotticelli MG, Soragni E, Wilson RB, Napierala M, Napierala JS. Design and validation of cell-based potency assays for frataxin supplementation treatments. Mol Ther Methods Clin Dev 2024;32:101347. [PMID: 39823061 PMCID: PMC11735916 DOI: 10.1016/j.omtm.2024.101347] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/28/2024] [Accepted: 09/24/2024] [Indexed: 01/19/2025]
33
Steinhilper R, Boß L, Freibert SA, Schulz V, Krapoth N, Kaltwasser S, Lill R, Murphy BJ. Two-stage binding of mitochondrial ferredoxin-2 to the core iron-sulfur cluster assembly complex. Nat Commun 2024;15:10559. [PMID: 39632806 PMCID: PMC11618653 DOI: 10.1038/s41467-024-54585-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/27/2024] [Accepted: 11/15/2024] [Indexed: 12/07/2024]  Open
34
Masnovo C, Paleiov Z, Dovrat D, Baxter LK, Movafaghi S, Aharoni A, Mirkin SM. Stabilization of expandable DNA repeats by the replication factor Mcm10 promotes cell viability. Nat Commun 2024;15:10532. [PMID: 39627228 PMCID: PMC11615337 DOI: 10.1038/s41467-024-54977-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/01/2024] [Accepted: 11/22/2024] [Indexed: 12/06/2024]  Open
35
Gerhart BJ, Pellerin D, Danzi MC, Zuchner S, Brais B, Matos-Rodrigues G, Nussenzweig A, Usdin K, Park CC, Napierala JS, Lynch DR, Napierala M. Assessment of the Clinical Interactions of GAA Repeat Expansions in FGF14 and FXN. Neurol Genet 2024;10:e200210. [PMID: 39574782 PMCID: PMC11581763 DOI: 10.1212/nxg.0000000000200210] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/25/2024] [Accepted: 09/19/2024] [Indexed: 11/24/2024]
36
Mohammed A, Churion K, Danda A, Philips SJ, Ansari AZ. A "Goldilocks Zone" for Recruiting BET Proteins with Bromodomain-1-Selective Ligands. ACS Chem Biol 2024;19:2268-2276. [PMID: 39401417 PMCID: PMC12011195 DOI: 10.1021/acschembio.4c00505] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/19/2024]
37
Song Z, Zahin T, Li X, Shao M. Accurate Detection of Tandem Repeats from Error-Prone Sequences with EquiRep. BIORXIV : THE PREPRINT SERVER FOR BIOLOGY 2024:2024.11.05.621953. [PMID: 39574759 PMCID: PMC11580891 DOI: 10.1101/2024.11.05.621953] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Figures] [Subscribe] [Scholar Register] [Indexed: 12/02/2024]
38
Lee GB, Park SM, Jung UJ, Kim SR. The Potential of Mesenchymal Stem Cells in Treating Spinocerebellar Ataxia: Advances and Future Directions. Biomedicines 2024;12:2507. [PMID: 39595073 PMCID: PMC11591855 DOI: 10.3390/biomedicines12112507] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/01/2024] [Revised: 10/28/2024] [Accepted: 10/31/2024] [Indexed: 11/28/2024]  Open
39
Pan F, Xu P, Roland C, Sagui C, Weninger K. Structural and Dynamical Properties of Nucleic Acid Hairpins Implicated in Trinucleotide Repeat Expansion Diseases. Biomolecules 2024;14:1278. [PMID: 39456210 PMCID: PMC11505666 DOI: 10.3390/biom14101278] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/28/2024] [Revised: 09/26/2024] [Accepted: 10/05/2024] [Indexed: 10/28/2024]  Open
40
Pall AE, Bond S, Bailey DK, Stoj CS, Deschamps I, Huggins P, Parsons J, Bradbury MJ, Kosman DJ, Stemmler TL. ATH434, a promising iron-targeting compound for treating iron regulation disorders. Metallomics 2024;16:mfae044. [PMID: 39317669 DOI: 10.1093/mtomcs/mfae044] [Citation(s) in RCA: 1] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/29/2024] [Accepted: 09/22/2024] [Indexed: 09/26/2024]
41
Salinas L, Montgomery CB, Figueroa F, Thai PN, Chiamvimonvat N, Cortopassi G, Dedkova EN. Sexual dimorphism in a mouse model of Friedreich's ataxia with severe cardiomyopathy. Commun Biol 2024;7:1250. [PMID: 39363102 PMCID: PMC11449905 DOI: 10.1038/s42003-024-06962-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/17/2024] [Accepted: 09/25/2024] [Indexed: 10/05/2024]  Open
42
Mosbach V, Puccio H. A multiple animal and cellular models approach to study frataxin deficiency in Friedreich Ataxia. BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR CELL RESEARCH 2024;1871:119809. [PMID: 39134123 DOI: 10.1016/j.bbamcr.2024.119809] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 03/01/2024] [Revised: 08/01/2024] [Accepted: 08/02/2024] [Indexed: 08/15/2024]
43
Scott V, Delatycki MB, Tai G, Corben LA. New and Emerging Drug and Gene Therapies for Friedreich Ataxia. CNS Drugs 2024;38:791-805. [PMID: 39115603 PMCID: PMC11377510 DOI: 10.1007/s40263-024-01113-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 07/18/2024] [Indexed: 09/06/2024]
44
Sanz-Alcázar A, Portillo-Carrasquer M, Delaspre F, Pazos-Gil M, Tamarit J, Ros J, Cabiscol E. Deciphering the ferroptosis pathways in dorsal root ganglia of Friedreich ataxia models. The role of LKB1/AMPK, KEAP1, and GSK3β in the impairment of the NRF2 response. Redox Biol 2024;76:103339. [PMID: 39243573 PMCID: PMC11408871 DOI: 10.1016/j.redox.2024.103339] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/02/2024] [Accepted: 09/02/2024] [Indexed: 09/09/2024]  Open
45
Vicente-Acosta A, Herranz-Martín S, Pazos MR, Galán-Cruz J, Amores M, Loria F, Díaz-Nido J. Glial cell activation precedes neurodegeneration in the cerebellar cortex of the YG8-800 murine model of Friedreich ataxia. Neurobiol Dis 2024;200:106631. [PMID: 39111701 DOI: 10.1016/j.nbd.2024.106631] [Citation(s) in RCA: 3] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/10/2024] [Revised: 07/31/2024] [Accepted: 08/02/2024] [Indexed: 08/15/2024]  Open
46
Indelicato E, Wanschitz J, Löscher W, Boesch S. Skeletal Muscle Involvement in Friedreich Ataxia. Int J Mol Sci 2024;25:9915. [PMID: 39337401 PMCID: PMC11432698 DOI: 10.3390/ijms25189915] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/06/2024] [Revised: 09/06/2024] [Accepted: 09/09/2024] [Indexed: 09/30/2024]  Open
47
Monfrini E, Baso G, Ronchi D, Meneri M, Gagliardi D, Quetti L, Verde F, Ticozzi N, Ratti A, Di Fonzo A, Comi GP, Ottoboni L, Corti S. Unleashing the potential of mRNA therapeutics for inherited neurological diseases. Brain 2024;147:2934-2945. [PMID: 38662782 PMCID: PMC11969220 DOI: 10.1093/brain/awae135] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/15/2023] [Revised: 03/10/2024] [Accepted: 03/21/2024] [Indexed: 09/04/2024]  Open
48
Beaudin M, Dupre N, Manto M. The importance of synthetic pharmacotherapy for recessive cerebellar ataxias. Expert Rev Neurother 2024;24:897-912. [PMID: 38980086 DOI: 10.1080/14737175.2024.2376840] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/19/2024] [Accepted: 07/02/2024] [Indexed: 07/10/2024]
49
Polesel M, Wildschut MHE, Doucerain C, Kuhn M, Flace A, Sá Zanetti L, Steck AL, Wilhelm M, Ingles-Prieto A, Wiedmer T, Superti-Furga G, Manolova V, Dürrenberger F. Image-based quantification of mitochondrial iron uptake via Mitoferrin-2. Mitochondrion 2024;78:101889. [PMID: 38692382 DOI: 10.1016/j.mito.2024.101889] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/26/2023] [Revised: 04/26/2024] [Accepted: 04/28/2024] [Indexed: 05/03/2024]
50
Paparella G, Stragà C, Pesenti N, Dal Molin V, Martorel GA, Merotto V, Genova C, Piazza A, Piccoli G, Panzeri E, Rufini A, Testi R, Martinuzzi A. A Pilot Phase 2 Randomized Trial to Evaluate the Safety and Potential Efficacy of Etravirine in Friedreich Ataxia Patients. CHILDREN (BASEL, SWITZERLAND) 2024;11:958. [PMID: 39201893 PMCID: PMC11352957 DOI: 10.3390/children11080958] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Figures] [Subscribe] [Scholar Register] [Received: 07/04/2024] [Revised: 08/01/2024] [Accepted: 08/07/2024] [Indexed: 09/03/2024]
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