SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency-Reference-Cited by-同舟云学术

SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency

Published:2017-12-01 Issue:3 Volume:27 Page:499-504
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Punzi Giuseppe¹,Porcelli Vito¹,Ruggiu Matteo²,Hossain Md F²,Menga Alessio¹,Scarcia Pasquale¹,Castegna Alessandra¹,Gorgoglione Ruggiero¹,Pierri Ciro L¹,Laera Luna¹³,Lasorsa Francesco M³,Paradies Eleonora³,Pisano Isabella¹,Marobbio Carlo M T¹^ORCID,Lamantea Eleonora⁴,Ghezzi Daniele⁴⁵^ORCID,Tiranti Valeria⁴,Giannattasio Sergio³,Donati Maria A⁶,Guerrini Renzo⁶⁷,Palmieri Luigi¹³,Palmieri Ferdinando¹³,De Grassi Anna¹^ORCID

Affiliation:

1. Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, 70125 Bari, Italy

2. Department of Biological Sciences, St. John's University, Queens, NY 11439, USA

3. Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, CNR, 70125 Bari, Italy

4. Unit of Molecular Neurogenetics, Foundation IRCCS Institute of Neurology “C. Besta”, 20126 Milan, Italy

5. Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy

6. Department of Neuroscience, Children's Hospital “A. Meyer”, 50139 Florence, Italy

7. IRCCS Stella Maris Foundation, 56128 Pisa, Italy

Funder

National Institutes of Health

European Union Seventh Framework Programme

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/27/3/499/24325915/ddx419.pdf

Reference26 articles.

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5. The sequence, bacterial expression, and functional reconstitution of the rat mitochondrial dicarboxylate transporter cloned via distant homologs in yeast and Caenorhabditis elegans;Fiermonte;J. Biol. Chem,1998

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