ArticleCell reports2019
Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease.
Open access · goldAbstract read
In one paragraph
Article in Cell reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed
4.5field-weighted citation impact, top 4% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
41 citing papers in PubMed, 70 citations in OpenAlex.
- Altered Plasma Acylcarnitines and Amino Acids Profile in Spinocerebellar Ataxia Type 7.Biomolecules · 2020Trial
- Blood Glucose Homeostasis is Preserved in Patients with Mild-to-moderate Spinocerebellar Ataxia Type 2.Cerebellum (London, England) · 2026Article
- The long road to a rare diagnosis: A Malaysian case of childhood-onset progressive myoclonus, ataxia, and retinal dystrophy with biopsy features suggestive of mitochondrial dysfunction.The Journal of international medical research · 2026Article
- Nuclear Lamina Dysfunction and DNA Damage as Drivers of Premature Senescence in a Human Müller Glial Cell Model of Spinocerebellar Ataxia Type 7.International journal of molecular sciences · 2026Article
- Experimental Models to Study Polyglutamine Spinocerebellar Ataxias: From Mechanisms to Therapeutic Developments.Cerebellum (London, England) · 2026Review
- Cerebellar Purkinje cell firing reduction contributes to aging-related declining motor coordination in mice.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Cerebellar deep brain stimulation rescues Purkinje cell mitochondrial density in a genetic mouse model of cerebellar ataxia.Brain research bulletin · 2026Article
- Molecular hallmarks of neurodegeneration in polyglutamine spinocerebellar ataxias.Cell death & disease · 2025Review
- In Silico Analysis of miRNA-Regulated Pathways in Spinocerebellar Ataxia Type 7.Current issues in molecular biology · 2025Article
- Respiratory neuropathology in spinocerebellar ataxia type 7.JCI insight · 2024Article
- Review
- Review
- Mitochondrial damage and impaired mitophagy contribute to disease progression in SCA6.Acta neuropathologica · 2024Article
- Increased nuclear import characterizes aberrant nucleocytoplasmic transport in neurons from patients with spinocerebellar ataxia type 7.Frontiers in molecular neuroscience · 2024Article
- Article
- Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity.Acta neuropathologica communications · 2023Article
- Article
- Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.American journal of human genetics · 2023Article
- Pre-meiotic deletion of PEX5 causes spermatogenesis failure and infertility in mice.Cell proliferation · 2023Article
- Gene Alterations Induced by Glutamine (Q) Encoding CAG Repeats Associated with Neurodegeneration.Methods in molecular biology (Clifton, N.J.) · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 10 institutions in 3 countries.
Jacqueline M WardDepartment of Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA.
Colleen A StoyasDepartment of Neurology, Duke University School of Medicine, Durham, NC 27710, USA.
Pawel M SwitonskiDepartment of Neurology, Duke University School of Medicine, Durham, NC 27710, USA; Department of Molecular Biomedicine, Institute of Bioorganic Chemistry, Polish Academy of Sciences, Noskowskiego 12/14 Str., 61-704 Poznan, Poland.
Farid IchouMetabolomics Core Facility, Institute of Cardiometabolism and Nutrition, ICAN, Paris, France.
Weiwei FanGene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA.
Brett CollinsGene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA.
Christopher E WallGene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA.
Isaac AdanyeguhICM, Sorbonne Université, UPMC-Paris 6, UMR S 1127 / INSERM U 1127 / CNRS UMR 7225 / ICM, 75013, Paris, France.
Chenchen NiuDepartment of Neurology, Duke University School of Medicine, Durham, NC 27710, USA.
Bryce L SopherDepartment of Neurology, University of Washington, Seattle, WA 98195, USA.
Chizuru KinoshitaDepartment of Neurosurgery, University of Washington, Seattle, WA 98195, USA.
Richard S MorrisonDepartment of Neurosurgery, University of Washington, Seattle, WA 98195, USA.
Alexandra DurrICM, Sorbonne Université, UPMC-Paris 6, UMR S 1127 / INSERM U 1127 / CNRS UMR 7225 / ICM, 75013, Paris, France; Department of Genetics, APHP, La Pitie-Salpêtriere University Hospital, Paris, France.
Alysson R MuotriDepartment of Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA; Department Cellular & Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Ronald M EvansMetabolomics Core Facility, Institute of Cardiometabolism and Nutrition, ICAN, Paris, France; Howard Hughes Medical Institute, Salk Institute for Biological Studies, La Jolla, CA 92037, USA.
Fanny MochelICM, Sorbonne Université, UPMC-Paris 6, UMR S 1127 / INSERM U 1127 / CNRS UMR 7225 / ICM, 75013, Paris, France; Department of Genetics, APHP, La Pitie-Salpêtriere University Hospital, Paris, France.
Albert R La SpadaDepartment of Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA; Department Cellular & Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA; Department of Neurobiology, Duke University School of Medicine, Durham, NC 27710, USA; Department of Cell Biology, Duke University School of Medicine, Durham, NC 27710, USA; Duke Center for Neurodegeneration & Neurotherapeutics, Duke University School of Medicine, Durham, NC 27710, USA. Electronic address: al.laspada@duke.edu.
Duke University · USSalk Institute for Biological Studies · USUniversity of Washington · USUniversity of California, San Diego · USFondation pour l’innovation en Cadiométabolisme et Nutrition · FRHoward Hughes Medical Institute · USInserm · FRInstitute of Bioorganic Chemistry, Polish Academy of Sciences · PLPitié-Salpêtrière Hospital · FRSorbonne Université · FR
Funding
Single-cell approaches to deconvolution of disease-associated signalsU19MH107367 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI MUOTRI, ALYSSON R. · 2015 to 2019
$15.0MSCA7 RETINAL DEGENERATION: MOLECULAR BASIS &THERAPYR01EY014061 · NEI · UNIVERSITY OF WASHINGTON · PI ALBERT R LA SPADA · 2002 to 2026
$8.4MProteogenetics of Autism Spectrum DisordersR01MH100175 · NIMH · SCRIPPS RESEARCH INSTITUTE, THE · PI MUOTRI, ALYSSON R., YATES III, JOHN R · 2013 to 2025
$7.4MSalk Institute for Biological Studies NINDS Center Core GrantP30NS072031 · NINDS · SALK INSTITUTE FOR BIOLOGICAL STUDIES · PI GOULDING, MARTYN D · 2011 to 2015
$4.2MMolecular genetic regulation of autophagy in health and neurodegenerative diseaseR01AG033082 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI LA SPADA, ALBERT R · 2009 to 2019
$4.0MROLE OF Nna1 IN RETINAL AND CEREBELLAR NEURODEGENERATIONR01EY014997 · NEI · UNIVERSITY OF WASHINGTON · PI LA SPADA, ALBERT R · 2004 to 2013
$2.9MIntegrative functional genomic study of pathways impacted by recurrent autism CNVR01MH108528 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI IAKOUCHEVA, LILIA M, MUOTRI, ALYSSON R. · 2016 to 2020
$2.6MEvaluating the effect of splicing mutations on isoform networks in autismR01MH109885 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI IAKOUCHEVA, LILIA M, MUOTRI, ALYSSON R. · 2016 to 2020
$2.5MAtaxin-7 oligonucleotide knock-down to treat SCA7 retinal and cerebellar diseaseR01EY024747 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI LA SPADA, ALBERT R · 2014 to 2017
$2.0MThe Impact of L1retrotransposition in the nervous systemR01MH094753 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI MUOTRI, ALYSSON R. · 2011 to 2015
$1.9MA transgenic model to study Bif-1 mediated neuroprotection in injury and diseaseR21NS084217 · NINDS · UNIVERSITY OF WASHINGTON · PI MORRISON, RICHARD S · 2014 to 2015
$425kHoward Hughes Medical InstituteNEI NIH HHS R01 EY014061NEI NIH HHS R01 EY014997NEI NIH HHS R01 EY024747NIA NIH HHS R01 AG033082NIMH NIH HHS R01 MH094753NIMH NIH HHS R01 MH100175NIMH NIH HHS R01 MH108528NIMH NIH HHS R01 MH109885NIMH NIH HHS U19 MH107367NINDS NIH HHS P30 NS072031NINDS NIH HHS R21 NS084217
Abstract
Spinocerebellar ataxia type 7 (SCA7) is a retinal-cerebellar degenerative disorder caused by CAG-polyglutamine (polyQ) repeat expansions in the ataxin-7 gene. As many SCA7 clinical phenotypes occur in mitochondrial disorders, and magnetic resonance spectroscopy of patients revealed altered energy metabolism, we considered a role for mitochondrial dysfunction. Studies of SCA7 mice uncovered marked impairments in oxygen consumption and respiratory exchange. When we examined cerebellar Purkinje cells in mice, we observed mitochondrial network abnormalities, with enlarged mitochondria upon ultrastructural analysis. We developed stem cell models from patients and created stem cell knockout rescue systems, documenting mitochondrial morphology defects, impaired oxidative metabolism, and reduced expression of nicotinamide adenine dinucleotide (NAD
Indexed as
Adipose TissueAnimalsAtaxin-7Blood GlucoseEnergy MetabolismHumansKynurenineMetabolomicsMiceMitochondriaMitochondrial DiseasesNADNeural Stem CellsOrganellesPeptidesPhenotypeAtaxin-7Blood GlucoseKynurenineNADPeptidespolyglutamineTryptophanataxin-7induced pluripotent stem cellsmitochondriamouse modelnicotinamide adenine dinucleotideoxidative metabolismpolyglutaminePurkinje cellspinocerebellar ataxiatrinucleotide repeat
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390
Registered trials
None linked
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.