ArticleThe EMBO journal2018
SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F.
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Article in The EMBO journal, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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51citing papers in PubMed
2.5field-weighted citation impact, top 10% of its field
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Who cites it
51 citing papers in PubMed, 79 citations in OpenAlex.
- Metformin improves RAN protein pathology, alternative splicing, and behavioral phenotypes in SCA8 mice.Life science alliance · 2026Article
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- Repeat-associated non-AUG translation as a common mechanism for the polyGln ataxias.Cell reports · 2026Article
- Polyserine domains are toxic and exacerbate tau pathology in mice.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- eIF3: a critical player in mRNA recruitment to the ribosome with emerging roles across translation.Biochemical Society transactions · 2025Review
- The telomeric valine-arginine dipeptide repeat protein changes state to diffuse staining in mitosis and represses in vitro translation.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- A distal promoter and aberrant splicing enable canonical translation of out-of-frame proteins in Huntington's disease.bioRxiv : the preprint server for biology · 2025Article
- Polyserine-tau interactions modulate tau fibrillization.The Journal of biological chemistry · 2025Article
- mAggregate (Hoboken, N.J.) · 2025Article
- Cerebral cortical functional hyperconnectivity in a mouse model of spinocerebellar ataxia type 8 (SCA8).Neurobiology of disease · 2025Article
- Dysregulation of alternative splicing is a transcriptomic feature of patient-derived fibroblasts from CAG repeat expansion spinocerebellar ataxias.Human molecular genetics · 2025Article
- Non-coding repeat analyses in patients with Parkinson's disease.Frontiers in neurology · 2025Article
- Article
- Role of Bβ1 overexpression in the pathogenesis of SCA12.Movement disorders : official journal of the Movement Disorder Society · 2024Article
- Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.Nature reviews. Genetics · 2024Review
- Cerebral cortical functional hyperconnectivity in a mouse model of spinocerebellar ataxia type 8 (SCA8).bioRxiv : the preprint server for biology · 2024Article
- CAG repeat expansions create splicing acceptor sites and produce aberrant repeat-containing RNAs.Molecular cell · 2024Article
- Widespread alternative splicing dysregulation occurs presymptomatically in CAG expansion spinocerebellar ataxias.Brain : a journal of neurology · 2024Article
- Bidirectional Transcription at the PPP2R2B Gene Locus in Spinocerebellar Ataxia Type 12.Movement disorders : official journal of the Movement Disorder Society · 2023Article
- CAG repeat expansions create splicing acceptor sites and produce aberrant repeat-containing RNAs.bioRxiv : the preprint server for biology · 2023Article
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Authors and funding
15 authors at 5 institutions in 2 countries.
Fatma AyhanCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL, USA.
Barbara A PerezCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL, USA.
Hannah K ShorrockCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL, USA.
Tao ZuCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL, USA.
Monica Banez-CoronelCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL, USA.
Tammy ReidCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL, USA.
Hirokazu FuruyaDepartment of Neurology, Kochi Medical School, Kochi University, Kochi, Japan.
H Brent ClarkDepartment of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN, USA.
Juan C TroncosoDepartment of Pathology and Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Christopher A RossDepartment of Psychiatry, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
S H SubramonyCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL, USA.
Tetsuo AshizawaDepartment of Neurology, Houston Methodist Hospital, Houston, TX, USA.
Eric T WangCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL, USA.
Anthony T YachnisDepartment of Pathology, Immunology and Laboratory Medicine, College of Medicine, University of Florida, Gainesville, FL, USA.
Laura Pw RanumCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL, USA ranum@ufl.edu.ORCID 0000-0001-9808-9661
University of Florida · USJohns Hopkins University · USMethodist Hospital · USOmuta hospital · JPUniversity of Minnesota Medical Center · US
Funding
'T V ASSESSMENT - MEMORY DISORDERED PATIENTS'P50AG005146 · NIA · JOHNS HOPKINS UNIVERSITY · PI HUGANIR, RICHARD L · 1985 to 2019
$37.6MUniversity of Florida - Mt. Sinai Medical Center AD Research CenterP50AG047266 · NIA · UNIVERSITY OF FLORIDA · PI FEBO, MARCELO · 2015 to 2019
$7.3MMolecular Genetic Characterization of SCA8R37NS040389 · NINDS · UNIVERSITY OF FLORIDA · PI RANUM, LAURA P.W · 2015 to 2021
$4.5MInterdisciplinary Training in Movement Disorders and NeurorestorationT32NS082168 · NINDS · UNIVERSITY OF FLORIDA · PI Melissa Jo Armstrong, David E Vaillancourt · 2015 to 2026
$2.8MNIA NIH HHS P50 AG005146NIA NIH HHS P50 AG047266NINDS NIH HHS R37 NS040389NINDS NIH HHS T32 NS082168
Abstract
Spinocerebellar ataxia type 8 (SCA8) is caused by a bidirectionally transcribed CTG·CAG expansion that results in the
Indexed as
AgingAnimalsEukaryotic Initiation Factor-3HeLa CellsHumansMiceMice, TransgenicNerve Tissue ProteinsSpinocerebellar DegenerationsWhite MatterEukaryotic Initiation Factor-3Nerve Tissue ProteinseIF3FpolyserineRAN translationspinocerebellar ataxia type 8 (SCA8)white matter
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Textmetadata
Read underepoch 390
Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.