CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington’s disease-Reference-Cited by-同舟云学术

CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington’s disease

Published:2021-09-29 Issue:613 Volume:13 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Picó Sara¹²^ORCID,Parras Alberto¹²^ORCID,Santos-Galindo María¹²^ORCID,Pose-Utrilla Julia²³^ORCID,Castro Margarita¹⁴⁵^ORCID,Fraga Enrique¹²^ORCID,Hernández Ivó H.¹²⁶,Elorza Ainara¹²^ORCID,Anta Héctor⁷⁸^ORCID,Wang Nan⁹,Martí-Sánchez Laura⁵¹⁰^ORCID,Belloc Eulàlia⁸^ORCID,Garcia-Esparcia Paula²¹¹^ORCID,Garrido Juan J.²¹²^ORCID,Ferrer Isidro²¹¹^ORCID,Macías-García Daniel²¹³^ORCID,Mir Pablo²¹³^ORCID,Artuch Rafael⁵¹⁰^ORCID,Pérez Belén¹⁴⁵,Hernández Félix¹²,Navarro Pilar⁷¹⁴¹⁵^ORCID,López-Sendón José Luis¹⁶^ORCID,Iglesias Teresa²³^ORCID,Yang X. William⁹,Méndez Raúl⁸¹⁷^ORCID,Lucas José J.¹²^ORCID

Affiliation:

1. Center for Molecular Biology “Severo Ochoa” (CBMSO) CSIC/UAM, Madrid, 28049, Spain.

2. Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid, 28031, Spain.

3. Instituto de Investigaciones Biomédicas “Alberto Sols,” Consejo Superior de Investigaciones Científicas–Universidad Autónoma de Madrid (CSIC-UAM), Madrid 28029, Spain.

4. Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid 28049, Spain.

5. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid,28029, Spain.

6. Facultad de Ciencias, Departamento de Biología (Unidad Docente Fisiología Animal), Universidad Autónoma de Madrid, Madrid 28049, Spain.

7. Cancer Research Program, Hospital del Mar Medical Research Institute (IMIM), Unidad Asociada I+D+i IMIM-IIBB (CSIC), Barcelona 08003, Spain.

8. Institute for Research in Biomedicine (IRB), Barcelona Institute of Science and Technology, Barcelona 08028, Spain.

9. Center for Neurobehavioral Genetics, Jane and Terry Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.

10. Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, Barcelona 08950, Spain.

11. Institute of Neuropathology, IDIBELL–University Hospital Bellvitge, University of Barcelona, Hospitalet de Llobregat, Barcelona 08908, Spain.

12. Department of Molecular, Cellular, and Developmental Neurobiology, Instituto Cajal (CSIC), Madrid 28002, Spain.

13. Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla 41013, Spain.

14. Institute of Biomedical Research of Barcelona (IIBB-CSIC), Barcelona 08036, Spain.

15. Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona 08036, Spain.

16. Department of Neurology, Hospital Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid 28034, Spain.

17. Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona 08010, Spain.

Abstract

Altered CPEBs and mRNA polyadenylation lead to thiamine deficiency in the brains of patients and mice with Huntington’s disease.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference71 articles.

1. Huntington's disease

2. Huntington's disease: The current state of research with peripheral tissues

3. Treating the whole body in Huntington's disease

4. Huntingtin Lowering Strategies for Disease Modification in Huntington’s Disease

5. Questions swirl around failures of disease-modifying Huntington’s drugs

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