Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Florence Habarou; Yamina Hamel; Tobias B Haack; René Feichtinger; Elise Lebigot; Iris Marquardt; Kanetee Busiah; Cécile Laroche; Marine Madrange; Coraline Grisel; Clément Pontoizeau; Monika Eisermann; Audrey Boutron; Dominique Chrétien; Bernadette Chadefaux-Vekemans; Robert Barouki; Christine Bole-Feysot; Patrick Nitschke; Nicolas Goudin; Nathalie Boddaert; Ivan Nemazanyy; Agnès Delahodde; Stefan Kölker; Richard J Rodenburg; G Christoph Korenke; Thomas Meitinger; Tim M Strom; Holger Prokisch; Agnes Rotig; Chris Ottolenghi; Johannes A. Mayr; Pascale de Lonlay

doi:10.1016/j.ajhg.2017.07.001

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Florence Habarou, Yamina Hamel, Tobias B Haack, René Feichtinger (Co-Autor/-in), Elise Lebigot, Iris Marquardt, Kanetee Busiah, Cécile Laroche, Marine Madrange, Coraline Grisel, Clément Pontoizeau, Monika Eisermann, Audrey Boutron, Dominique Chrétien, Bernadette Chadefaux-Vekemans, Robert Barouki, Christine Bole-Feysot, Patrick Nitschke, Nicolas Goudin, Nathalie BoddaertIvan Nemazanyy, Agnès Delahodde, Stefan Kölker, Richard J Rodenburg, G Christoph Korenke, Thomas Meitinger, Tim M Strom, Holger Prokisch, Agnes Rotig, Chris Ottolenghi, Johannes A. Mayr^* (Letztautor/-in), Pascale de Lonlay

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

Universitätsklinik für Kinder- und Jugendheilkunde

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

52 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	283-290
Fachzeitschrift	AMERICAN JOURNAL OF HUMAN GENETICS
Jahrgang	101
Ausgabenummer	2
DOIs	https://doi.org/10.1016/j.ajhg.2017.07.001
Publikationsstatus	Veröffentlicht - 2017

Zugriff auf Dokument

10.1016/j.ajhg.2017.07.001

Dieses zitieren

Habarou, F., Hamel, Y., Haack, T. B., Feichtinger, R., Lebigot, E., Marquardt, I., Busiah, K., Laroche, C., Madrange, M., Grisel, C., Pontoizeau, C., Eisermann, M., Boutron, A., Chrétien, D., Chadefaux-Vekemans, B., Barouki, R., Bole-Feysot, C., Nitschke, P., Goudin, N., ... de Lonlay, P. (2017). Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. AMERICAN JOURNAL OF HUMAN GENETICS , 101(2), 283-290. https://doi.org/10.1016/j.ajhg.2017.07.001

Habarou, Florence ; Hamel, Yamina ; Haack, Tobias B et al. / Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. in: AMERICAN JOURNAL OF HUMAN GENETICS 2017 ; Jahrgang 101, Nr. 2. S. 283-290.

@article{c7312bf7a0d047e9b6b03f1970f0b926,

title = "Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.",

keywords = "HUMAN LIPOYLTRANSFERASE GENE, MULTIPLE RESPIRATORY-CHAIN, LIPOIC ACID BIOSYNTHESIS, SACCHAROMYCES-CEREVISIAE, CLUSTER BIOGENESIS, HUMAN-DISEASE, DEFICIENCY, DEHYDROGENASE, NFU1, METABOLISM",

author = "Florence Habarou and Yamina Hamel and Haack, {Tobias B} and Ren{\'e} Feichtinger and Elise Lebigot and Iris Marquardt and Kanetee Busiah and C{\'e}cile Laroche and Marine Madrange and Coraline Grisel and Cl{\'e}ment Pontoizeau and Monika Eisermann and Audrey Boutron and Dominique Chr{\'e}tien and Bernadette Chadefaux-Vekemans and Robert Barouki and Christine Bole-Feysot and Patrick Nitschke and Nicolas Goudin and Nathalie Boddaert and Ivan Nemazanyy and Agn{\`e}s Delahodde and Stefan K{\"o}lker and Rodenburg, {Richard J} and Korenke, {G Christoph} and Thomas Meitinger and Strom, {Tim M} and Holger Prokisch and Agnes Rotig and Chris Ottolenghi and Mayr, {Johannes A.} and {de Lonlay}, Pascale",

note = "Feichtinger, Mayr: Paracelsus Med Univ Salzburg, Dept Pediat, Salzburg, Austria; Mayr & de Lonlay: These authors contributed equally to this work.",

year = "2017",

doi = "10.1016/j.ajhg.2017.07.001",

language = "English",

volume = "101",

pages = "283--290",

journal = "AMERICAN JOURNAL OF HUMAN GENETICS ",

issn = "0002-9297",

number = "2",

}

Habarou, F, Hamel, Y, Haack, TB, Feichtinger, R, Lebigot, E, Marquardt, I, Busiah, K, Laroche, C, Madrange, M, Grisel, C, Pontoizeau, C, Eisermann, M, Boutron, A, Chrétien, D, Chadefaux-Vekemans, B, Barouki, R, Bole-Feysot, C, Nitschke, P, Goudin, N, Boddaert, N, Nemazanyy, I, Delahodde, A, Kölker, S, Rodenburg, RJ, Korenke, GC, Meitinger, T, Strom, TM, Prokisch, H, Rotig, A, Ottolenghi, C, Mayr, JA & de Lonlay, P 2017, 'Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.', AMERICAN JOURNAL OF HUMAN GENETICS , Jg. 101, Nr. 2, S. 283-290. https://doi.org/10.1016/j.ajhg.2017.07.001

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. / Habarou, Florence; Hamel, Yamina; Haack, Tobias B et al.
in: AMERICAN JOURNAL OF HUMAN GENETICS , Jahrgang 101, Nr. 2, 2017, S. 283-290.

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

TY - JOUR

T1 - Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

AU - Habarou, Florence

AU - Hamel, Yamina

AU - Haack, Tobias B

AU - Feichtinger, René

AU - Lebigot, Elise

AU - Marquardt, Iris

AU - Busiah, Kanetee

AU - Laroche, Cécile

AU - Madrange, Marine

AU - Grisel, Coraline

AU - Pontoizeau, Clément

AU - Eisermann, Monika

AU - Boutron, Audrey

AU - Chrétien, Dominique

AU - Chadefaux-Vekemans, Bernadette

AU - Barouki, Robert

AU - Bole-Feysot, Christine

AU - Nitschke, Patrick

AU - Goudin, Nicolas

AU - Boddaert, Nathalie

AU - Nemazanyy, Ivan

AU - Delahodde, Agnès

AU - Kölker, Stefan

AU - Rodenburg, Richard J

AU - Korenke, G Christoph

AU - Meitinger, Thomas

AU - Strom, Tim M

AU - Prokisch, Holger

AU - Rotig, Agnes

AU - Ottolenghi, Chris

AU - Mayr, Johannes A.

AU - de Lonlay, Pascale

N1 - Feichtinger, Mayr: Paracelsus Med Univ Salzburg, Dept Pediat, Salzburg, Austria; Mayr & de Lonlay: These authors contributed equally to this work.

PY - 2017

Y1 - 2017

KW - HUMAN LIPOYLTRANSFERASE GENE

KW - MULTIPLE RESPIRATORY-CHAIN

KW - LIPOIC ACID BIOSYNTHESIS

KW - SACCHAROMYCES-CEREVISIAE

KW - CLUSTER BIOGENESIS

KW - HUMAN-DISEASE

KW - DEFICIENCY

KW - DEHYDROGENASE

KW - NFU1

KW - METABOLISM

U2 - 10.1016/j.ajhg.2017.07.001

DO - 10.1016/j.ajhg.2017.07.001

M3 - Original Article

C2 - 28757203

SN - 0002-9297

VL - 101

SP - 283

EP - 290

JO - AMERICAN JOURNAL OF HUMAN GENETICS

JF - AMERICAN JOURNAL OF HUMAN GENETICS

IS - 2

ER -

Habarou F, Hamel Y, Haack TB, Feichtinger R, Lebigot E, Marquardt I et al. Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. AMERICAN JOURNAL OF HUMAN GENETICS . 2017;101(2):283-290. doi: 10.1016/j.ajhg.2017.07.001