Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.

René Feichtinger; Michaela Brunner-Krainz; Bader Alhaddad; Saskia Wortmann; Reka Kovacs-Nagy; Tatjana Stojakovic; Wolfgang Erwa; Bernhard Resch; Werner Windischhofer; Sarah Verheyen; Sabine Uhrig; Christian Windpassinger; Felix Locker; Christine Makowski; Tim M Strom; Thomas Meitinger; Holger Prokisch; Wolfgang Sperl; Tobias B Haack; Johannes A. Mayr

doi:10.1155/2017/7202589

Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.

René Feichtinger^* (Erstautor/-in), Michaela Brunner-Krainz, Bader Alhaddad, Saskia Wortmann (Co-Autor/-in), Reka Kovacs-Nagy, Tatjana Stojakovic, Wolfgang Erwa, Bernhard Resch, Werner Windischhofer, Sarah Verheyen, Sabine Uhrig, Christian Windpassinger, Felix Locker (Co-Autor/-in), Christine Makowski, Tim M Strom, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl (Co-Autor/-in), Tobias B Haack, Johannes A. Mayr (Letztautor/-in)

^*Korrespondierende/r Autor/-in für diese Arbeit

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

33 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	7202589
Fachzeitschrift	Oxidative Medicine and Cellular Longevity
Jahrgang	2017
DOIs	https://doi.org/10.1155/2017/7202589
Publikationsstatus	Veröffentlicht - 2017

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10.1155/2017/7202589

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Feichtinger, R., Brunner-Krainz, M., Alhaddad, B., Wortmann, S., Kovacs-Nagy, R., Stojakovic, T., Erwa, W., Resch, B., Windischhofer, W., Verheyen, S., Uhrig, S., Windpassinger, C., Locker, F., Makowski, C., Strom, T. M., Meitinger, T., Prokisch, H., Sperl, W., Haack, T. B., & Mayr, J. A. (2017). Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies. Oxidative Medicine and Cellular Longevity , 2017, 7202589. https://doi.org/10.1155/2017/7202589

@article{eb5a40d5435b4b79959c4c210b7d24f3,

title = "Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.",

keywords = "CYTOCHROME-C-OXIDASE, LACTIC-ACIDOSIS, HOMOZYGOUS MUTATION, ENZYME DEFICIENCY, MITOCHONDRIAL-DNA, RENAL ONCOCYTOMA, UQCRC2 MUTATION, PHOSPHORYLATION, HYPOGLYCEMIA, DISEASE",

author = "Ren{\'e} Feichtinger and Michaela Brunner-Krainz and Bader Alhaddad and Saskia Wortmann and Reka Kovacs-Nagy and Tatjana Stojakovic and Wolfgang Erwa and Bernhard Resch and Werner Windischhofer and Sarah Verheyen and Sabine Uhrig and Christian Windpassinger and Felix Locker and Christine Makowski and Strom, {Tim M} and Thomas Meitinger and Holger Prokisch and Wolfgang Sperl and Haack, {Tobias B} and Mayr, {Johannes A.}",

note = "Feichtinger, Wortmann, Sperl, Mayr: Salzburger Landeskliniken SALK, Dept Pediat, Paracelsus Med Univ, Salzburg, Austria; Locker: Paracelsus Med Univ, Dept Pediat, Res Program Receptor Biochem *** Tumor Metab, Laura Bassi Ctr Expertise THERAPEP, Salzburg, Austria",

year = "2017",

doi = "10.1155/2017/7202589",

language = "English",

volume = "2017",

pages = "7202589",

journal = "Oxidative Medicine and Cellular Longevity ",

issn = "1942-0900",

}

Feichtinger, R, Brunner-Krainz, M, Alhaddad, B, Wortmann, S, Kovacs-Nagy, R, Stojakovic, T, Erwa, W, Resch, B, Windischhofer, W, Verheyen, S, Uhrig, S, Windpassinger, C, Locker, F, Makowski, C, Strom, TM, Meitinger, T, Prokisch, H, Sperl, W, Haack, TB & Mayr, JA 2017, 'Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.', Oxidative Medicine and Cellular Longevity , Jg. 2017, S. 7202589. https://doi.org/10.1155/2017/7202589

Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies. / Feichtinger, René (Erstautor/-in); Brunner-Krainz, Michaela; Alhaddad, Bader et al.
in: Oxidative Medicine and Cellular Longevity , Jahrgang 2017, 2017, S. 7202589.

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

TY - JOUR

T1 - Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.

AU - Feichtinger, René

AU - Brunner-Krainz, Michaela

AU - Alhaddad, Bader

AU - Wortmann, Saskia

AU - Kovacs-Nagy, Reka

AU - Stojakovic, Tatjana

AU - Erwa, Wolfgang

AU - Resch, Bernhard

AU - Windischhofer, Werner

AU - Verheyen, Sarah

AU - Uhrig, Sabine

AU - Windpassinger, Christian

AU - Locker, Felix

AU - Makowski, Christine

AU - Strom, Tim M

AU - Meitinger, Thomas

AU - Prokisch, Holger

AU - Sperl, Wolfgang

AU - Haack, Tobias B

AU - Mayr, Johannes A.

N1 - Feichtinger, Wortmann, Sperl, Mayr: Salzburger Landeskliniken SALK, Dept Pediat, Paracelsus Med Univ, Salzburg, Austria; Locker: Paracelsus Med Univ, Dept Pediat, Res Program Receptor Biochem *** Tumor Metab, Laura Bassi Ctr Expertise THERAPEP, Salzburg, Austria

PY - 2017

Y1 - 2017

KW - CYTOCHROME-C-OXIDASE

KW - LACTIC-ACIDOSIS

KW - HOMOZYGOUS MUTATION

KW - ENZYME DEFICIENCY

KW - MITOCHONDRIAL-DNA

KW - RENAL ONCOCYTOMA

KW - UQCRC2 MUTATION

KW - PHOSPHORYLATION

KW - HYPOGLYCEMIA

KW - DISEASE

U2 - 10.1155/2017/7202589

DO - 10.1155/2017/7202589

M3 - Original Article

C2 - 28804536

SN - 1942-0900

VL - 2017

SP - 7202589

JO - Oxidative Medicine and Cellular Longevity

JF - Oxidative Medicine and Cellular Longevity

ER -