ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins

Published:2018-05-14 Issue:15 Volume:27 Page:2739-2754
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Torraco Alessandra¹,Stehling Oliver²,Stümpfig Claudia²,Rösser Ralf²,De Rasmo Domenico³,Fiermonte Giuseppe⁴,Verrigni Daniela¹,Rizza Teresa¹,Vozza Angelo⁴,Di Nottia Michela¹,Diodato Daria¹,Martinelli Diego⁵,Piemonte Fiorella¹,Dionisi-Vici Carlo⁵,Bertini Enrico¹^ORCID,Lill Roland²⁶,Carrozzo Rosalba¹^ORCID

Affiliation:

1. Laboratory of Molecular Medicine, Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

2. Institut für Zytobiologie, Philipps-Universität Marburg, Marburg, Germany

3. Institute of Biomembrane, Bioenergetics and Molecular Biotechnology (IBIOM), National Research Council (CNR), Bari, Italy

4. Laboratory of Biochemistry and Molecular Biology, Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari, Italy

5. Division of Metabolism, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

6. LOEWE Zentrum für Synthetische Mikrobiologie SynMikro, Marburg, Germany

Funder

Italian Ministry of Health

Deutsche Forschungsgemeinschaft

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/27/15/2739/25170250/ddy183.pdf

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