SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation-Reference-Cited by-同舟云学术

SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation

Published:2019-01-29 Issue:3 Volume:85 Page:385-395
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Dewulf Joseph P.¹²³^ORCID,Wiame Elsa¹²,Dorboz Imen⁴,Elmaleh-Bergès Monique⁵,Imbard Apolline⁶⁷,Dumitriu Dana⁸,Rak Malgorzata⁴,Bourillon Agnès⁶⁷,Helaers Raphaël⁹,Malla Alisha¹⁰,Renaldo Florence⁴¹¹¹²,Boespflug-Tanguy Odile⁴¹¹¹²,Vincent Marie-Françoise³,Benoist Jean-François⁶⁷,Wevers Ron A.¹³,Schlessinger Avner¹⁰,Van Schaftingen Emile¹²,Nassogne Marie-Cécile¹⁴,Schiff Manuel⁴¹¹¹⁵^ORCID

Affiliation:

1. Laboratory of Physiological Chemistry, de Duve Institute; Université catholique de Louvain; Brussels Belgium

2. Walloon Excellence in Life Sciences and Biotechnology (WELBIO); Brussels Belgium

3. Department of Laboratory Medicine, Cliniques universitaires Saint-Luc; Université catholique de Louvain; Brussels Belgium

4. UMR1141, PROTECT, INSERM; Paris Diderot University; Sorbonne Paris Cité Paris France

5. Department of Pediatric Imaging, Robert Debré University Hospital; Public APHP; Paris France

6. Laboratory of Biochemistry, Robert Debré University Hospital; APHP; France

7. Paris-Sud University; Châtenay-Malabry France

8. Department of Pediatric Imaging, Cliniques universitaires Saint-Luc; Université catholique de Louvain; Brussels Belgium

9. Human Molecular Genetics, de Duve Institute; Université catholique de Louvain; Brussels Belgium

10. Department of Pharmacological Sciences; Icahn School of Medicine at Mount Sinai; New York NY

11. Department of Pediatric Neurology and Metabolic Diseases, Robert Debré University Hospital; APHP; Paris France

12. Reference Center for Leukodystrophies and Rare Leukoencephalopathies, LEUKOFRANCE, Robert Debré University Hospital; APHP; Paris France

13. Translational Metabolic Laboratory, Department of Laboratory Medicine; Radboud University Medical Center; Nijmegen the Netherlands

14. Pediatric Neurology Unit, Cliniques universitaires Saint-Luc; Université catholique de Louvain; Brussels Belgium

15. Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital; APHP; Paris France

Funder

Association Européenne contre les Leucodystrophies

European Union FP7 RD Connect project

Fonds De La Recherche Scientifique - FNRS

Walloon Excellence in Life sciences and Biotechnology

National Institutes of Health

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ana.25412/fullpdf

Reference41 articles.

1. Structure, function, and genomic organization of human Na(+)-dependent high-affinity dicarboxylate transporter;Wang;Am J Physiol Cell Physiol,2000

2. Sodium-coupled dicarboxylate and citrate transporters from the SLC13 family;Pajor;Pflugers Arch,2014

3. SLC13 family of Na(+)-coupled di- and tri-carboxylate/sulfate transporters;Bergeron;Mol Aspects Med,2013

4. Primary structure and functional characteristics of a mammalian sodium-coupled high affinity dicarboxylate transporter;Kekuda;J Biol Chem,1999

5. Cloning and functional characterization of a high-affinity Na(+)/dicarboxylate cotransporter from mouse brain;Pajor;Am J Physiol Cell Physiol,2001

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