Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability-Reference-Cited by-同舟云学术

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability

Published:2015-04-21 Issue:14 Volume:24 Page:3948-3955
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Angebault Claire,Charif Majida,Guegen Naig,Piro-Megy Camille,Mousson de Camaret Benedicte,Procaccio Vincent,Guichet Pierre-Olivier,Hebrard Maxime,Manes Gael,Leboucq Nicolas,Rivier François,Hamel Christian P.,Lenaers Guy,Roubertie Agathe

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/24/14/3948/17261908/ddv133.pdf

Reference19 articles.

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2. NDUFA4 is a subunit of complex IV of the mammalian electron transport chain;Balsa;Cell Metab.,2012

3. Molecular base of biochemical complex I deficiency;Hoefs;Mitochondrion,2012

4. Respiratory active mitochondrial supercomplexes;Acín-Pérez;Mol. Cell,2008

5. Supramolecular organization of protein complexes in the mitochondrial inner membrane;Vonck;Biochim. Biophys. Acta,2009

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