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For: Todd PK, Oh SY, Krans A, He F, Sellier C, Frazer M, Renoux AJ, Chen KC, Scaglione KM, Basrur V, Elenitoba-Johnson K, Vonsattel JP, Louis ED, Sutton MA, Taylor JP, Mills RE, Charlet-Berguerand N, Paulson HL. CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome. Neuron 2013;78:440-55. [PMID: 23602499 DOI: 10.1016/j.neuron.2013.03.026] [Citation(s) in RCA: 371] [Impact Index Per Article: 30.9] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 03/26/2013] [Indexed: 01/18/2023]
Number Cited by Other Article(s)
1
Ding N, Song Y, Zhang Y, Yu W, Li X, Li W, Li L. Heat-shock chaperone HSPB1 mitigates poly-glycine-induced neurodegeneration via restoration of autophagic flux. Autophagy 2025;21:1298-1315. [PMID: 39936620 DOI: 10.1080/15548627.2025.2466144] [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: 10/13/2024] [Revised: 02/03/2025] [Accepted: 02/07/2025] [Indexed: 02/13/2025]  Open
2
Tutak K, Broniarek I, Zielezinski A, Niewiadomska D, Skrzypczak T, Baud A, Sobczak K. Insufficiency of 40S ribosomal proteins, RPS26 and RPS25, negatively affects biosynthesis of polyglycine-containing proteins in fragile-X associated conditions. eLife 2025;13:RP98631. [PMID: 40377206 DOI: 10.7554/elife.98631] [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] [Indexed: 05/18/2025]  Open
3
Hölbling BV, Gupta Y, Marchi PM, Atilano ML, Flower M, Ureña E, Goulden RA, Dobbs HK, Katona E, Mikheenko A, Giblin A, Awan AR, Fisher-Ward CL, O'Brien N, Vaizoglu D, Kempthorne L, Wilson KM, Gittings LM, Carcolé M, Ruepp MD, Mizielinska S, Partridge L, Fratta P, Tabrizi SJ, Selvaraj BT, Chandran S, Armstrong E, Whiting P, Isaacs AM. A multimodal screening platform for endogenous dipeptide repeat proteins in C9orf72 patient iPSC neurons. Cell Rep 2025;44:115695. [PMID: 40349338 DOI: 10.1016/j.celrep.2025.115695] [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: 06/21/2023] [Revised: 11/04/2024] [Accepted: 04/23/2025] [Indexed: 05/14/2025]  Open
4
Paracuellos-Ayala I, Caruana G, Reyes Ortega MM, Hagerman RJ, Wang JY, Rodriguez-Revenga L, Elias-Mas A. Involvement of the Cerebellar Peduncles in FMR1 Premutation Carriers: A Pictorial Review of Their Anatomy, Imaging, and Pathology. Int J Mol Sci 2025;26:4402. [PMID: 40362640 PMCID: PMC12072475 DOI: 10.3390/ijms26094402] [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: 03/21/2025] [Revised: 04/29/2025] [Accepted: 05/02/2025] [Indexed: 05/15/2025]  Open
5
Ishiura H. Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints. J Neuromuscul Dis 2025:22143602251319164. [PMID: 40033734 DOI: 10.1177/22143602251319164] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 03/05/2025]
6
An Z, Jiang A, Chen J. Toward understanding the role of genomic repeat elements in neurodegenerative diseases. Neural Regen Res 2025;20:646-659. [PMID: 38886931 PMCID: PMC11433896 DOI: 10.4103/nrr.nrr-d-23-01568] [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: 09/18/2023] [Revised: 12/21/2023] [Accepted: 03/02/2024] [Indexed: 06/20/2024]  Open
7
Oguro A, Uemura T, Machida K, Kitajiri K, Tajima A, Furuchi T, Kawai G, Imataka H. Polyamines enhance repeat-associated non-AUG translation from CCUG repeats by stabilizing the tertiary structure of RNA. J Biol Chem 2025;301:108251. [PMID: 39894221 PMCID: PMC11919584 DOI: 10.1016/j.jbc.2025.108251] [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: 06/27/2024] [Revised: 01/22/2025] [Accepted: 01/24/2025] [Indexed: 02/04/2025]  Open
8
Chase A, Hamrick L, Arnold H, Smith J, Hantman R, Cortez K, Adayev T, Tortora ND, Dahlman A, Roberts J. Reduced Respiratory Sinus Arrhythmia in Infants with the FMR1 Premutation. Int J Mol Sci 2025;26:2186. [PMID: 40076819 PMCID: PMC11900448 DOI: 10.3390/ijms26052186] [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: 01/17/2025] [Revised: 02/21/2025] [Accepted: 02/24/2025] [Indexed: 03/14/2025]  Open
9
Jung S, Richter JD. Trinucleotide repeat expansion and RNA dysregulation in fragile X syndrome: emerging therapeutic approaches. RNA (NEW YORK, N.Y.) 2025;31:307-313. [PMID: 39725461 PMCID: PMC11874960 DOI: 10.1261/rna.080270.124] [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] [Received: 09/25/2024] [Accepted: 12/23/2024] [Indexed: 12/28/2024]
10
Kul E, Santos M, Stork O. Nigrostriatal Degeneration Underpins Sensorimotor Dysfunction in an Inducible Mouse Model of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). Int J Mol Sci 2025;26:1511. [PMID: 40003975 PMCID: PMC11855849 DOI: 10.3390/ijms26041511] [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: 12/31/2024] [Revised: 02/07/2025] [Accepted: 02/10/2025] [Indexed: 02/27/2025]  Open
11
Hobara T, Ando M, Higuchi Y, Yuan JH, Yoshimura A, Kojima F, Noguchi Y, Takei J, Hiramatsu Y, Nozuma S, Nakamura T, Adachi T, Toyooka K, Yamashita T, Sakiyama Y, Hashiguchi A, Matsuura E, Okamoto Y, Takashima H. Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy. J Neurol Neurosurg Psychiatry 2025;96:140-149. [PMID: 39013564 PMCID: PMC11877035 DOI: 10.1136/jnnp-2024-333403] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/17/2024] [Accepted: 06/12/2024] [Indexed: 07/18/2024]
12
Gillett DA, Tigro H, Wang Y, Suo Z. FMR1 Disorders: Basics of Biology and Therapeutics in Development. Cells 2024;13:2100. [PMID: 39768191 PMCID: PMC11674747 DOI: 10.3390/cells13242100] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/24/2024] [Revised: 12/04/2024] [Accepted: 12/13/2024] [Indexed: 01/11/2025]  Open
13
Zhang Y, Liu X, Li Z, Li H, Miao Z, Wan B, Xu X. Advances on the Mechanisms and Therapeutic Strategies in Non-coding CGG Repeat Expansion Diseases. Mol Neurobiol 2024;61:10722-10735. [PMID: 38780719 DOI: 10.1007/s12035-024-04239-9] [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: 11/20/2023] [Accepted: 05/02/2024] [Indexed: 05/25/2024]
14
Chang WD, Yoon MJ, Yeo KH, Choe YJ. Threonine-rich carboxyl-terminal extension drives aggregation of stalled polypeptides. Mol Cell 2024;84:4334-4349.e7. [PMID: 39488212 DOI: 10.1016/j.molcel.2024.10.011] [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: 02/26/2024] [Revised: 08/01/2024] [Accepted: 10/09/2024] [Indexed: 11/04/2024]
15
Broniarek I, Niewiadomska D, Sobczak K. Contribution of DNA/RNA Structures Formed by Expanded CGG/CCG Repeats Within the FMR1 Locus in the Pathogenesis of Fragile X-Associated Disorders. WILEY INTERDISCIPLINARY REVIEWS. RNA 2024;15:e1874. [PMID: 39523485 DOI: 10.1002/wrna.1874] [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] [Received: 05/14/2024] [Revised: 09/05/2024] [Accepted: 09/09/2024] [Indexed: 11/16/2024]
16
Han TW, Portz B, Young RA, Boija A, Klein IA. RNA and condensates: Disease implications and therapeutic opportunities. Cell Chem Biol 2024;31:1593-1609. [PMID: 39303698 DOI: 10.1016/j.chembiol.2024.08.009] [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: 07/03/2024] [Revised: 08/14/2024] [Accepted: 08/21/2024] [Indexed: 09/22/2024]
17
Glineburg M, Yildirim E, Gomez N, Rodriguez G, Pak J, Li X, Altheim C, Waksmacki J, McInerney G, Barmada S, Todd P. Stress granule formation helps to mitigate neurodegeneration. Nucleic Acids Res 2024;52:9745-9759. [PMID: 39106168 PMCID: PMC11381325 DOI: 10.1093/nar/gkae655] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/10/2023] [Revised: 05/28/2024] [Accepted: 07/17/2024] [Indexed: 08/09/2024]  Open
18
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M, Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry. Nat Commun 2024;15:6327. [PMID: 39068203 PMCID: PMC11283466 DOI: 10.1038/s41467-024-49950-2] [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: 09/29/2023] [Accepted: 06/25/2024] [Indexed: 07/30/2024]  Open
19
Klusek J, Will E, Christensen T, Caravella K, Hogan A, Sun J, Smith J, Fairchild AJ, Roberts JE. Social Communication Delay in an Unbiased Sample of Preschoolers With the FMR1 Premutation. JOURNAL OF SPEECH, LANGUAGE, AND HEARING RESEARCH : JSLHR 2024;67:2316-2332. [PMID: 38889222 PMCID: PMC11253810 DOI: 10.1044/2024_jslhr-23-00580] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 09/19/2023] [Revised: 12/20/2023] [Accepted: 04/15/2024] [Indexed: 06/20/2024]
20
Sirois CL, Guo Y, Li M, Wolkoff NE, Korabelnikov T, Sandoval S, Lee J, Shen M, Contractor A, Sousa AMM, Bhattacharyya A, Zhao X. CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons. Cell Rep 2024;43:114330. [PMID: 38865241 PMCID: PMC11240841 DOI: 10.1016/j.celrep.2024.114330] [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: 11/18/2023] [Revised: 04/18/2024] [Accepted: 05/22/2024] [Indexed: 06/14/2024]  Open
21
Tseng YJ, Krans A, Malik I, Deng X, Yildirim E, Ovunc S, Tank EH, Jansen-West K, Kaufhold R, Gomez N, Sher R, Petrucelli L, Barmada S, Todd P. Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats. Nucleic Acids Res 2024;52:5928-5949. [PMID: 38412259 PMCID: PMC11162809 DOI: 10.1093/nar/gkae137] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/07/2023] [Revised: 02/05/2024] [Accepted: 02/19/2024] [Indexed: 02/29/2024]  Open
22
Charlet-Berguerand N. An unexpected polyglycine route to spinocerebellar ataxia. Nat Genet 2024;56:1039-1041. [PMID: 38811843 DOI: 10.1038/s41588-024-01770-2] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 05/31/2024]
23
Kumar M, Sahni S, A V, Kumar D, Kushwah N, Goel D, Kapoor H, Srivastava AK, Faruq M. Molecular clues unveiling spinocerebellar ataxia type-12 pathogenesis. iScience 2024;27:109768. [PMID: 38711441 PMCID: PMC11070597 DOI: 10.1016/j.isci.2024.109768] [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: 07/27/2023] [Revised: 01/31/2024] [Accepted: 04/15/2024] [Indexed: 05/08/2024]  Open
24
Kudo K, Hori K, Asamitsu S, Maeda K, Aida Y, Hokimoto M, Matsuo K, Yabuki Y, Shioda N. Structural polymorphism of the nucleic acids in pentanucleotide repeats associated with the neurological disorder CANVAS. J Biol Chem 2024;300:107138. [PMID: 38447794 PMCID: PMC10999818 DOI: 10.1016/j.jbc.2024.107138] [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: 08/17/2023] [Revised: 02/15/2024] [Accepted: 02/27/2024] [Indexed: 03/08/2024]  Open
25
Westover KR, Jin P, Yao B. Bridging the gap: R-loop mediated genomic instability and its implications in neurological diseases. Epigenomics 2024;16:589-608. [PMID: 38530068 PMCID: PMC11160457 DOI: 10.2217/epi-2023-0379] [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: 10/27/2023] [Accepted: 03/12/2024] [Indexed: 03/27/2024]  Open
26
Tak Y, Schneider A, Santos E, Randol JL, Tassone F, Hagerman P, Hagerman RJ. Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome. Genes (Basel) 2024;15:331. [PMID: 38540390 PMCID: PMC10970065 DOI: 10.3390/genes15030331] [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: 01/30/2024] [Revised: 02/26/2024] [Accepted: 02/28/2024] [Indexed: 04/07/2024]  Open
27
Dufour BD, Bartley T, McBride E, Allen E, McLennan YA, Hagerman RJ, Martínez-Cerdeño V. FXTAS Neuropathology Includes Widespread Reactive Astrogliosis and White Matter Specific Astrocyte Degeneration. Ann Neurol 2024;95:558-575. [PMID: 38069470 PMCID: PMC10922917 DOI: 10.1002/ana.26851] [Citation(s) in RCA: 1] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/12/2023] [Revised: 12/05/2023] [Accepted: 12/06/2023] [Indexed: 01/17/2024]
28
Shi Y, Cao C, Zeng Y, Ding Y, Chen L, Zheng F, Chen X, Zhou F, Yang X, Li J, Xu L, Xu G, Lin M, Ishiura H, Tsuji S, Wang N, Wang Z, Chen WJ, Yang K. CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy. J Genet Genomics 2024;51:184-196. [PMID: 38159879 DOI: 10.1016/j.jgg.2023.12.009] [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: 09/26/2023] [Revised: 12/25/2023] [Accepted: 12/25/2023] [Indexed: 01/03/2024]
29
Nakamori M. Expanded‐repeat‐RNA‐mediated disease mechanisms in myotonic dystrophy. NEUROLOGY AND CLINICAL NEUROSCIENCE 2024;12:16-23. [DOI: 10.1111/ncn3.12687] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Received: 07/31/2022] [Accepted: 12/05/2022] [Indexed: 01/04/2025]
30
Malachowski T, Chandradoss KR, Boya R, Zhou L, Cook AL, Su C, Pham K, Haws SA, Kim JH, Ryu HS, Ge C, Luppino JM, Nguyen SC, Titus KR, Gong W, Wallace O, Joyce EF, Wu H, Rojas LA, Phillips-Cremins JE. Spatially coordinated heterochromatinization of long synaptic genes in fragile X syndrome. Cell 2023;186:5840-5858.e36. [PMID: 38134876 PMCID: PMC10794044 DOI: 10.1016/j.cell.2023.11.019] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/03/2022] [Revised: 07/31/2023] [Accepted: 11/16/2023] [Indexed: 12/24/2023]
31
Ito H, Machida K, Hasumi M, Ueyama M, Nagai Y, Imataka H, Taguchi H. Reconstitution of C9orf72 GGGGCC repeat-associated non-AUG translation with purified human translation factors. Sci Rep 2023;13:22826. [PMID: 38129650 PMCID: PMC10739749 DOI: 10.1038/s41598-023-50188-z] [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: 08/28/2023] [Accepted: 12/16/2023] [Indexed: 12/23/2023]  Open
32
Persico T, Tranquillo ML, Seracchioli R, Zuccarello D, Sorrentino U. PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene. Genes (Basel) 2023;15:6. [PMID: 38275588 PMCID: PMC10815814 DOI: 10.3390/genes15010006] [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: 10/25/2023] [Revised: 12/14/2023] [Accepted: 12/15/2023] [Indexed: 01/27/2024]  Open
33
Kumar M, Tyagi N, Faruq M. The molecular mechanisms of spinocerebellar ataxias for DNA repeat expansion in disease. Emerg Top Life Sci 2023;7:289-312. [PMID: 37668011 DOI: 10.1042/etls20230013] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/30/2023] [Revised: 08/01/2023] [Accepted: 08/16/2023] [Indexed: 09/06/2023]
34
Kargar M, Hagerman RJ, Martínez-Cerdeño V. Neurodegeneration of White and Gray Matter in the Hippocampus with FXTAS. Int J Mol Sci 2023;24:17266. [PMID: 38139097 PMCID: PMC10743470 DOI: 10.3390/ijms242417266] [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: 09/27/2023] [Revised: 11/07/2023] [Accepted: 12/05/2023] [Indexed: 12/24/2023]  Open
35
Yang S, Wijegunawardana D, Sheth U, Veire AM, Salgado JMS, Agrawal M, Zhou J, Pereira JD, Gendron TF, Guo JU. Aberrant splicing exonizes C9ORF72 repeat expansion in ALS/FTD. BIORXIV : THE PREPRINT SERVER FOR BIOLOGY 2023:2023.11.13.566896. [PMID: 38014069 PMCID: PMC10680656 DOI: 10.1101/2023.11.13.566896] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/29/2023]
36
Tassone F, Protic D, Allen EG, Archibald AD, Baud A, Brown TW, Budimirovic DB, Cohen J, Dufour B, Eiges R, Elvassore N, Gabis LV, Grudzien SJ, Hall DA, Hessl D, Hogan A, Hunter JE, Jin P, Jiraanont P, Klusek J, Kooy RF, Kraan CM, Laterza C, Lee A, Lipworth K, Losh M, Loesch D, Lozano R, Mailick MR, Manolopoulos A, Martinez-Cerdeno V, McLennan Y, Miller RM, Montanaro FAM, Mosconi MW, Potter SN, Raspa M, Rivera SM, Shelly K, Todd PK, Tutak K, Wang JY, Wheeler A, Winarni TI, Zafarullah M, Hagerman RJ. Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation. Cells 2023;12:2330. [PMID: 37759552 PMCID: PMC10529056 DOI: 10.3390/cells12182330] [Citation(s) in RCA: 30] [Impact Index Per Article: 15.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/04/2023] [Revised: 09/09/2023] [Accepted: 09/12/2023] [Indexed: 09/29/2023]  Open
37
Wang S, Sun S. Translation dysregulation in neurodegenerative diseases: a focus on ALS. Mol Neurodegener 2023;18:58. [PMID: 37626421 PMCID: PMC10464328 DOI: 10.1186/s13024-023-00642-3] [Citation(s) in RCA: 5] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/03/2023] [Accepted: 07/21/2023] [Indexed: 08/27/2023]  Open
38
Giménez-Bejarano A, Alegre-Cortés E, Yakhine-Diop SMS, Gómez-Suaga P, Fuentes JM. Mitochondrial Dysfunction in Repeat Expansion Diseases. Antioxidants (Basel) 2023;12:1593. [PMID: 37627588 PMCID: PMC10451345 DOI: 10.3390/antiox12081593] [Citation(s) in RCA: 6] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/17/2023] [Revised: 07/29/2023] [Accepted: 08/02/2023] [Indexed: 08/27/2023]  Open
39
Malik I, Tseng YJ, Wieland CM, Green KM, Zheng K, Calleja K, Todd PK. Dissecting the roles of EIF4G homologs reveals DAP5 as a modifier of CGG repeat-associated toxicity in a Drosophila model of FXTAS. Neurobiol Dis 2023;184:106212. [PMID: 37352983 PMCID: PMC11149892 DOI: 10.1016/j.nbd.2023.106212] [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: 04/16/2023] [Revised: 06/19/2023] [Accepted: 06/21/2023] [Indexed: 06/25/2023]  Open
40
Zhang S, Pei G, Li B, Li P, Lin Y. Abnormal phase separation of biomacromolecules in human diseases. Acta Biochim Biophys Sin (Shanghai) 2023;55:1133-1152. [PMID: 37475546 PMCID: PMC10423695 DOI: 10.3724/abbs.2023139] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/25/2023] [Accepted: 07/07/2023] [Indexed: 07/22/2023]  Open
41
Wang JY, Sonico GJ, Salcedo-Arellano MJ, Hagerman RJ, Martinez-Cerdeno V. A Postmortem MRI Study of Cerebrovascular Disease and Iron Content at End-Stage of Fragile X-Associated Tremor/Ataxia Syndrome. Cells 2023;12:1898. [PMID: 37508562 PMCID: PMC10377990 DOI: 10.3390/cells12141898] [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: 06/07/2023] [Revised: 07/03/2023] [Accepted: 07/14/2023] [Indexed: 07/30/2023]  Open
42
Viera Ortiz AP, Cajka G, Olatunji OA, Mikytuck B, Shalem O, Lee EB. Impaired ribosome-associated quality control of C9orf72 arginine-rich dipeptide-repeat proteins. Brain 2023;146:2897-2912. [PMID: 36516294 PMCID: PMC10316761 DOI: 10.1093/brain/awac479] [Citation(s) in RCA: 6] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/28/2022] [Revised: 11/05/2022] [Accepted: 12/06/2022] [Indexed: 12/15/2022]  Open
43
Protic D, Polli R, Hwang YH, Mendoza G, Hagerman R, Durbin-Johnson B, Hayward BE, Usdin K, Murgia A, Tassone F. Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation. Cells 2023;12:1711. [PMID: 37443745 PMCID: PMC10341054 DOI: 10.3390/cells12131711] [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: 05/29/2023] [Revised: 06/17/2023] [Accepted: 06/21/2023] [Indexed: 07/15/2023]  Open
44
Zhang Y, Huang J, Yu K, Cui X. G-Quadruplexes Formation by the C9orf72 Nucleotide Repeat Expansion d(GGGGCC)n and Conformation Regulation by Fangchinoline. Molecules 2023;28:4671. [PMID: 37375224 DOI: 10.3390/molecules28124671] [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: 04/26/2023] [Revised: 06/01/2023] [Accepted: 06/06/2023] [Indexed: 06/29/2023]  Open
45
Lee HG, Imaichi S, Kraeutler E, Aguilar R, Lee YW, Sheridan SD, Lee JT. Site-specific R-loops induce CGG repeat contraction and fragile X gene reactivation. Cell 2023;186:2593-2609.e18. [PMID: 37209683 PMCID: PMC11505655 DOI: 10.1016/j.cell.2023.04.035] [Citation(s) in RCA: 23] [Impact Index Per Article: 11.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/14/2021] [Revised: 01/15/2023] [Accepted: 04/26/2023] [Indexed: 05/22/2023]
46
Tseng YJ, Malik I, Deng X, Krans A, Jansen-West K, Tank EM, Gomez NB, Sher R, Petrucelli L, Barmada SJ, Todd PK. Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats. BIORXIV : THE PREPRINT SERVER FOR BIOLOGY 2023:2023.06.07.544135. [PMID: 37333274 PMCID: PMC10274811 DOI: 10.1101/2023.06.07.544135] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 06/20/2023]
47
Dias CM, Issac B, Sun L, Lukowicz A, Talukdar M, Akula SK, Miller MB, Walsh K, Rockowitz S, Walsh CA. Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome. Proc Natl Acad Sci U S A 2023;120:e2300052120. [PMID: 37252957 PMCID: PMC10265985 DOI: 10.1073/pnas.2300052120] [Citation(s) in RCA: 6] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/05/2023] [Accepted: 04/03/2023] [Indexed: 06/01/2023]  Open
48
Wright SE, Todd PK. Native functions of short tandem repeats. eLife 2023;12:e84043. [PMID: 36940239 PMCID: PMC10027321 DOI: 10.7554/elife.84043] [Citation(s) in RCA: 10] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/11/2022] [Accepted: 03/08/2023] [Indexed: 03/21/2023]  Open
49
Straub D, Schmitt LM, Boggs AE, Horn PS, Dominick KC, Gross C, Erickson CA. A sensitive and reproducible qRT-PCR assay detects physiological relevant trace levels of FMR1 mRNA in individuals with Fragile X syndrome. Sci Rep 2023;13:3808. [PMID: 36882476 PMCID: PMC9992378 DOI: 10.1038/s41598-023-29786-4] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/13/2022] [Accepted: 02/10/2023] [Indexed: 03/09/2023]  Open
50
Reyes CJF, Asano K. Between Order and Chaos: Understanding the Mechanism and Pathology of RAN Translation. Biol Pharm Bull 2023;46:139-146. [PMID: 36724941 DOI: 10.1248/bpb.b22-00448] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/03/2023]
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