AAGGG repeat expansions trigger

Humans Replication Protein C / genetics Neurons / metabolism Induced Pluripotent Stem Cells / metabolism DNA Repeat Expansion / genetics Cerebellar Ataxia / genetics Synapses / metabolism Bilateral Vestibulopathy / genetics Vestibular Diseases / genetics Alleles

Journal

Science advances
ISSN: 2375-2548
Titre abrégé: Sci Adv
Pays: United States
ID NLM: 101653440

Informations de publication

Date de publication:
06 Sep 2024
Historique:
medline: 4 9 2024
pubmed: 4 9 2024
entrez: 4 9 2024
Statut: ppublish

Résumé

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited neurodegenerative disorder caused by intronic biallelic, nonreference CCCTT/AAGGG repeat expansions within

Identifiants

DOI: 10.1126/sciadv.adn2321 PMID: 39231235
pubmed: 39231235
doi: 10.1126/sciadv.adn2321
doi:

Substances chimiques

Replication Protein C EC 3.6.4.-
RFC1 protein, human 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

eadn2321

Auteurs

Connor J Maltby (CJ)

Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
ORCID: 0000-0003-2746-9055

Amy Krans (A)

Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
Ann Arbor Veterans Administration Healthcare, Ann Arbor, MI, USA.

Samantha J Grudzien (SJ)

Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI, USA.
Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
ORCID: 0000-0003-2085-3222

Yomira Palacios (Y)

Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
Postbaccalaureate Research Education Program, University of Michigan, Ann Arbor, MI, USA.
ORCID: 0000-0002-9968-2085

Jessica Muiños (J)

Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
UM SMART Undergraduate Summer Program, University of Michigan, Ann Arbor, MI, USA.
ORCID: 0009-0000-0332-6178

Andrea Suárez (A)

Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
Postbaccalaureate Research Education Program, University of Michigan, Ann Arbor, MI, USA.

Melissa Asher (M)

Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
ORCID: 0000-0002-9074-557X

Sydney Willey (S)

Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI, USA.
ORCID: 0009-0005-4263-7848

Kinsey Van Deynze (K)

Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
ORCID: 0000-0002-9186-9881

Camille Mumm (C)

Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
ORCID: 0000-0002-7585-9851

Alan P Boyle (AP)

Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
ORCID: 0000-0002-2081-1105

Andrea Cortese (A)

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Department of Brain and Behaviour Sciences, University of Pavia, Pavia 27100, Italy.

Alain Ndayisaba (A)

Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0001-7611-7115

Vikram Khurana (V)

Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Harvard Stem Cell Institute, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Sami J Barmada (SJ)

Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
ORCID: 0000-0002-9604-968X

Anke A Dijkstra (AA)

Department of Pathology, Amsterdam UMC, Amsterdam Neuroscience, Amsterdam, Netherlands.
Swammerdam Institute for Life Sciences, University of Amsterdam, Amsterdam, Netherlands.
ORCID: 0000-0003-2160-587X

Peter K Todd (PK)

Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
Ann Arbor Veterans Administration Healthcare, Ann Arbor, MI, USA.
ORCID: 0000-0003-4781-6376

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › AAGGG repeat expansions trigger
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de liaison à l'ADN › Protéine C de réplication › AAGGG repeat expansions trigger
questionsmedicales.fr › Cellules › Neurones › AAGGG repeat expansions trigger
questionsmedicales.fr › Cellules › Cellules souches › Cellules souches pluripotentes › Cellules souches pluripotentes induites › AAGGG repeat expansions trigger
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Expansion de séquence répétée de l'ADN › AAGGG repeat expansions trigger
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Dyskinésies › Ataxie › Ataxie cérébelleuse › AAGGG repeat expansions trigger
questionsmedicales.fr › Cellules › Structures cellulaires › Membrane cellulaire › Structures de la membrane cellulaire › Jonctions intercellulaires › Synapses › AAGGG repeat expansions trigger
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Vestibulopathie bilatérale › AAGGG repeat expansions trigger
questionsmedicales.fr › Maladies oto-rhino-laryngologiques › Maladies des oreilles › Maladies labyrinthiques › Maladies vestibulaires › AAGGG repeat expansions trigger
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles › AAGGG repeat expansions trigger