Content area
Full Text
About the Authors:
Maria Eirini Terzenidou
Contributed equally to this work with: Maria Eirini Terzenidou, Aikaterini Segklia
Affiliations Laboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, Athens, Greece, Biomedical Sciences Research Center "Alexander Fleming", Vari, Greece
Aikaterini Segklia
Contributed equally to this work with: Maria Eirini Terzenidou, Aikaterini Segklia
Affiliation: Laboratory of Cellular and Molecular Neurobiology, Hellenic Pasteur Institute, Athens, Greece
Toshimi Kano
Affiliations Laboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, Athens, Greece, Biomedical Sciences Research Center "Alexander Fleming", Vari, Greece
Florentia Papastefanaki
Affiliation: Laboratory of Cellular and Molecular Neurobiology, Hellenic Pasteur Institute, Athens, Greece
Alexandros Karakostas
Affiliations Laboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, Athens, Greece, Biomedical Sciences Research Center "Alexander Fleming", Vari, Greece
Maria Charalambous
Affiliation: Laboratory of Cellular and Molecular Neurobiology, Hellenic Pasteur Institute, Athens, Greece
ORCID http://orcid.org/0000-0001-8417-1023
Fotis Ioakeimidis
Affiliations Laboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, Athens, Greece, Biomedical Sciences Research Center "Alexander Fleming", Vari, Greece
Maria Papadaki
Affiliations Laboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, Athens, Greece, Biomedical Sciences Research Center "Alexander Fleming", Vari, Greece
Ismini Kloukina
Affiliation: Center of Basic Research, Biomedical Research Foundation of the Academy of Athens, Athens, Greece
Margarita Chrysanthou-Piterou
Affiliation: Laboratory of Neurobiology, Histochemistry and Electron Microscopy, 1st Department of Psychiatry, University of Athens Medical School, Eginition Hospital, Athens, Greece
Martina Samiotaki
Affiliation: Biomedical Sciences Research Center "Alexander Fleming", Vari, Greece
George Panayotou
Affiliation: Biomedical Sciences Research Center "Alexander Fleming", Vari, Greece
Rebecca Matsas
¶‡ These authors are joint senior authors on this work.
Affiliation: Laboratory of Cellular and Molecular Neurobiology, Hellenic Pasteur Institute, Athens, Greece
Eleni Douni
* E-mail: [email protected]
¶‡ These authors are joint senior authors on this work.
Affiliations Laboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, Athens, Greece, Biomedical Sciences Research Center "Alexander Fleming", Vari, Greece
ORCID http://orcid.org/0000-0003-0004-5121Abstract
The mitochondrial protein SLC25A46 has been recently identified as a novel pathogenic cause in a wide spectrum of neurological diseases, including inherited optic atrophy, Charcot-Marie-Tooth type 2, Leigh syndrome, progressive myoclonic ataxia and lethal congenital pontocerebellar hypoplasia. SLC25A46 is an outer membrane protein, member of the Solute Carrier 25 (SLC25) family of nuclear genes encoding mitochondrial carriers, with a role in mitochondrial dynamics and cristae maintenance....