Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

Monika Oláhová; Wan Hee Yoon; Kyle Thompson; Sharayu Jangam; Liliana Fernandez; Jean M Davidson; Jennifer E Kyle; Megan E Grove; Dianna G Fisk; Jennefer N Kohler; Matthew Holmes; Annika M Dries; Yong Huang; Chunli Zhao; Kévin Contrepois; Zachary Zappala; Laure Frésard; Daryl Waggott; Erika M Zink; Young-Mo Kim; Heino M Heyman; Kelly G Stratton; Bobbie-Jo M Webb-Robertson; Michael Snyder; Jason D Merker; Stephen B Montgomery; Paul G Fisher; René Feichtinger; Johannes A. Mayr; Julie Hall; Ines A Barbosa; Michael A Simpson; Charu Deshpande; Katrina M Waters; David M Koeller; Thomas O Metz; Andrew A Morris; Susan Schelley; Tina Cowan; Marisa W Friederich; Robert McFarland; Johan L K Van Hove; Gregory M Enns; Shinya Yamamoto; Euan A Ashley; Michael F Wangler; Robert W Taylor; Hugo J Bellen; Jonathan A Bernstein; Matthew T Wheeler

doi:10.1016/j.ajhg.2018.01.020

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

Monika Oláhová
, Wan Hee Yoon
, Kyle Thompson
, Sharayu Jangam
, Liliana Fernandez
, Jean M Davidson
, Jennifer E Kyle
, Megan E Grove
, Dianna G Fisk
, Jennefer N Kohler
, Matthew Holmes
, Annika M Dries
, Yong Huang
, Chunli Zhao
, Kévin Contrepois
, Zachary Zappala
, Laure Frésard
, Daryl Waggott
, Erika M Zink
, Young-Mo Kim

Heino M Heyman, Kelly G Stratton, Bobbie-Jo M Webb-Robertson, Michael Snyder, Jason D Merker, Stephen B Montgomery, Paul G Fisher, René Feichtinger (Co-Autor/-in), Johannes A. Mayr (Co-Autor/-in), Julie Hall, Ines A Barbosa, Michael A Simpson, Charu Deshpande, Katrina M Waters, David M Koeller, Thomas O Metz, Andrew A Morris, Susan Schelley, Tina Cowan, Marisa W Friederich, Robert McFarland, Johan L K Van Hove, Gregory M Enns, Shinya Yamamoto, Euan A Ashley, Michael F Wangler, Robert W Taylor, Hugo J Bellen, Jonathan A Bernstein, Matthew T Wheeler

Universitätsklinik für Kinder- und Jugendheilkunde

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

76 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	494-504
Fachzeitschrift	AMERICAN JOURNAL OF HUMAN GENETICS
Jahrgang	102
Ausgabenummer	3
DOIs	https://doi.org/10.1016/j.ajhg.2018.01.020
Publikationsstatus	Veröffentlicht - 2018

Zugriff auf Dokument

10.1016/j.ajhg.2018.01.020

Dieses zitieren

Oláhová, M., Yoon, W. H., Thompson, K., Jangam, S., Fernandez, L., Davidson, J. M., Kyle, J. E., Grove, M. E., Fisk, D. G., Kohler, J. N., Holmes, M., Dries, A. M., Huang, Y., Zhao, C., Contrepois, K., Zappala, Z., Frésard, L., Waggott, D., Zink, E. M., ... Wheeler, M. T. (2018). Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. AMERICAN JOURNAL OF HUMAN GENETICS , 102(3), 494-504. https://doi.org/10.1016/j.ajhg.2018.01.020

Oláhová, Monika ; Yoon, Wan Hee ; Thompson, Kyle et al. / Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. in: AMERICAN JOURNAL OF HUMAN GENETICS 2018 ; Jahrgang 102, Nr. 3. S. 494-504.

@article{6dc4bcc692154cae8b10ae45b73d2308,

title = "Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.",

keywords = "MITOCHONDRIAL RESPIRATORY-CHAIN, COMPLEX-V DEFICIENCY, SACCHAROMYCES-CEREVISIAE, TMEM70 DEFICIENCY, GENETIC-DEFECTS, DISEASE, MODEL, ONSET, CARDIOMYOPATHY, EXPRESSION",

author = "Monika Ol{\'a}hov{\'a} and Yoon, \{Wan Hee\} and Kyle Thompson and Sharayu Jangam and Liliana Fernandez and Davidson, \{Jean M\} and Kyle, \{Jennifer E\} and Grove, \{Megan E\} and Fisk, \{Dianna G\} and Kohler, \{Jennefer N\} and Matthew Holmes and Dries, \{Annika M\} and Yong Huang and Chunli Zhao and K{\'e}vin Contrepois and Zachary Zappala and Laure Fr{\'e}sard and Daryl Waggott and Zink, \{Erika M\} and Young-Mo Kim and Heyman, \{Heino M\} and Stratton, \{Kelly G\} and Webb-Robertson, \{Bobbie-Jo M\} and Michael Snyder and Merker, \{Jason D\} and Montgomery, \{Stephen B\} and Fisher, \{Paul G\} and Ren{\'e} Feichtinger and Mayr, \{Johannes A.\} and Julie Hall and Barbosa, \{Ines A\} and Simpson, \{Michael A\} and Charu Deshpande and Waters, \{Katrina M\} and Koeller, \{David M\} and Metz, \{Thomas O\} and Morris, \{Andrew A\} and Susan Schelley and Tina Cowan and Friederich, \{Marisa W\} and Robert McFarland and \{Van Hove\}, \{Johan L K\} and Enns, \{Gregory M\} and Shinya Yamamoto and Ashley, \{Euan A\} and Wangler, \{Michael F\} and Taylor, \{Robert W\} and Bellen, \{Hugo J\} and Bernstein, \{Jonathan A\} and Wheeler, \{Matthew T\}",

note = "Feichtinger, RG.; Mayr, JA: Paracelsus Med Univ, Dept Pediat, A-5020 Salzburg, Austria;",

year = "2018",

doi = "10.1016/j.ajhg.2018.01.020",

language = "English",

volume = "102",

pages = "494--504",

journal = "AMERICAN JOURNAL OF HUMAN GENETICS ",

issn = "0002-9297",

publisher = "Elsevier ",

number = "3",

}

Oláhová, M, Yoon, WH, Thompson, K, Jangam, S, Fernandez, L, Davidson, JM, Kyle, JE, Grove, ME, Fisk, DG, Kohler, JN, Holmes, M, Dries, AM, Huang, Y, Zhao, C, Contrepois, K, Zappala, Z, Frésard, L, Waggott, D, Zink, EM, Kim, Y-M, Heyman, HM, Stratton, KG, Webb-Robertson, B-JM, Snyder, M, Merker, JD, Montgomery, SB, Fisher, PG, Feichtinger, R , Mayr, JA, Hall, J, Barbosa, IA, Simpson, MA, Deshpande, C, Waters, KM, Koeller, DM, Metz, TO, Morris, AA, Schelley, S, Cowan, T, Friederich, MW, McFarland, R, Van Hove, JLK, Enns, GM, Yamamoto, S, Ashley, EA, Wangler, MF, Taylor, RW, Bellen, HJ, Bernstein, JA & Wheeler, MT 2018, 'Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.', AMERICAN JOURNAL OF HUMAN GENETICS , Jg. 102, Nr. 3, S. 494-504. https://doi.org/10.1016/j.ajhg.2018.01.020

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. / Oláhová, Monika; Yoon, Wan Hee; Thompson, Kyle et al.
in: AMERICAN JOURNAL OF HUMAN GENETICS , Jahrgang 102, Nr. 3, 2018, S. 494-504.

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

TY - JOUR

T1 - Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

AU - Oláhová, Monika

AU - Yoon, Wan Hee

AU - Thompson, Kyle

AU - Jangam, Sharayu

AU - Fernandez, Liliana

AU - Davidson, Jean M

AU - Kyle, Jennifer E

AU - Grove, Megan E

AU - Fisk, Dianna G

AU - Kohler, Jennefer N

AU - Holmes, Matthew

AU - Dries, Annika M

AU - Huang, Yong

AU - Zhao, Chunli

AU - Contrepois, Kévin

AU - Zappala, Zachary

AU - Frésard, Laure

AU - Waggott, Daryl

AU - Zink, Erika M

AU - Kim, Young-Mo

AU - Heyman, Heino M

AU - Stratton, Kelly G

AU - Webb-Robertson, Bobbie-Jo M

AU - Snyder, Michael

AU - Merker, Jason D

AU - Montgomery, Stephen B

AU - Fisher, Paul G

AU - Feichtinger, René

AU - Mayr, Johannes A.

AU - Hall, Julie

AU - Barbosa, Ines A

AU - Simpson, Michael A

AU - Deshpande, Charu

AU - Waters, Katrina M

AU - Koeller, David M

AU - Metz, Thomas O

AU - Morris, Andrew A

AU - Schelley, Susan

AU - Cowan, Tina

AU - Friederich, Marisa W

AU - McFarland, Robert

AU - Van Hove, Johan L K

AU - Enns, Gregory M

AU - Yamamoto, Shinya

AU - Ashley, Euan A

AU - Wangler, Michael F

AU - Taylor, Robert W

AU - Bellen, Hugo J

AU - Bernstein, Jonathan A

AU - Wheeler, Matthew T

N1 - Feichtinger, RG.; Mayr, JA: Paracelsus Med Univ, Dept Pediat, A-5020 Salzburg, Austria;

PY - 2018

Y1 - 2018

KW - MITOCHONDRIAL RESPIRATORY-CHAIN

KW - COMPLEX-V DEFICIENCY

KW - SACCHAROMYCES-CEREVISIAE

KW - TMEM70 DEFICIENCY

KW - GENETIC-DEFECTS

KW - DISEASE

KW - MODEL

KW - ONSET

KW - CARDIOMYOPATHY

KW - EXPRESSION

U2 - 10.1016/j.ajhg.2018.01.020

DO - 10.1016/j.ajhg.2018.01.020

M3 - Original Article

C2 - 29478781

SN - 0002-9297

VL - 102

SP - 494

EP - 504

JO - AMERICAN JOURNAL OF HUMAN GENETICS

JF - AMERICAN JOURNAL OF HUMAN GENETICS

IS - 3

ER -

Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM et al. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. AMERICAN JOURNAL OF HUMAN GENETICS . 2018;102(3):494-504. doi: 10.1016/j.ajhg.2018.01.020