Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.

Hannah Kennedy; Tobias B Haack; Verity Hartill; Lavinija Mataković; E Regula Baumgartner; Howard Potter; Richard Mackay; Charlotte L Alston; Siobhan O"Sullivan; Robert McFarland; Grainne Connolly; Caroline Gannon; Richard King; Scott Mead; Ian Crozier; Wandy Chan; Chris M Florkowski; Martin Sage; Thomas Höfken; Bader Alhaddad; Laura S Kremer; Robert Kopajtich; René Feichtinger; Wolfgang Sperl; Richard J Rodenburg; Jean Claude Minet; Angus Dobbie; Tim M Strom; Thomas Meitinger; Peter M George; Colin A Johnson; Robert W Taylor; Holger Prokisch; Kit Doudney; Johannes A. Mayr

doi:10.1016/j.ajhg.2016.06.027

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.

Hannah Kennedy
, Tobias B Haack
, Verity Hartill
, Lavinija Mataković
, E Regula Baumgartner
, Howard Potter
, Richard Mackay
, Charlotte L Alston
, Siobhan O"Sullivan
, Robert McFarland
, Grainne Connolly
, Caroline Gannon
, Richard King
, Scott Mead
, Ian Crozier
, Wandy Chan
, Chris M Florkowski
, Martin Sage
, Thomas Höfken
, Bader Alhaddad

Laura S Kremer, Robert Kopajtich, René Feichtinger (Co-author), Wolfgang Sperl (Co-author), Richard J Rodenburg, Jean Claude Minet, Angus Dobbie, Tim M Strom, Thomas Meitinger, Peter M George, Colin A Johnson, Robert W Taylor, Holger Prokisch, Kit Doudney, Johannes A. Mayr^* (Last author)

^*Corresponding author for this work

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

52 Citations (Web of Science)

Original language	English
Pages (from-to)	674-682
Journal	AMERICAN JOURNAL OF HUMAN GENETICS
Volume	99
Issue number	3
DOIs	https://doi.org/10.1016/j.ajhg.2016.06.027
Publication status	Published - 2016

Keywords

ATP SYNTHASE DEFICIENCY
SACCHAROMYCES-CEREVISIAE
MUTATIONS
GENE
DEPLETION
SUBUNIT
ACETATE
LIVER
HEART

Access to Document

10.1016/j.ajhg.2016.06.027

Mitochondriopathy – Network for diagnostics and therapy (GENOMIT)
Sperl, W. (PI)
1/02/12 → 1/02/15
Project: Research

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Kennedy, H., Haack, T. B., Hartill, V., Mataković, L., Baumgartner, E. R., Potter, H., Mackay, R., Alston, C. L., O"Sullivan, S., McFarland, R., Connolly, G., Gannon, C., King, R., Mead, S., Crozier, I., Chan, W., Florkowski, C. M., Sage, M., Höfken, T., ... Mayr, J. A. (2016). Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. AMERICAN JOURNAL OF HUMAN GENETICS , 99(3), 674-682. https://doi.org/10.1016/j.ajhg.2016.06.027

Kennedy, Hannah ; Haack, Tobias B ; Hartill, Verity et al. / Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. In: AMERICAN JOURNAL OF HUMAN GENETICS 2016 ; Vol. 99, No. 3. pp. 674-682.

@article{6c4ac9fcde0d42979d0470e421649c23,

title = "Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.",

keywords = "ATP SYNTHASE DEFICIENCY, SACCHAROMYCES-CEREVISIAE, MUTATIONS, GENE, DEPLETION, SUBUNIT, ACETATE, LIVER, HEART",

author = "Hannah Kennedy and Haack, \{Tobias B\} and Verity Hartill and Lavinija Matakovi{\'c} and Baumgartner, \{E Regula\} and Howard Potter and Richard Mackay and Alston, \{Charlotte L\} and Siobhan O{"}Sullivan and Robert McFarland and Grainne Connolly and Caroline Gannon and Richard King and Scott Mead and Ian Crozier and Wandy Chan and Florkowski, \{Chris M\} and Martin Sage and Thomas H{\"o}fken and Bader Alhaddad and Kremer, \{Laura S\} and Robert Kopajtich and Ren{\'e} Feichtinger and Wolfgang Sperl and Rodenburg, \{Richard J\} and Minet, \{Jean Claude\} and Angus Dobbie and Strom, \{Tim M\} and Thomas Meitinger and George, \{Peter M\} and Johnson, \{Colin A\} and Taylor, \{Robert W\} and Holger Prokisch and Kit Doudney and Mayr, \{Johannes A.\}",

note = "Feichtinger, Sperl, Mayr: Paracelsus Med Univ Salzburg, Dept Pediat, A-5020 Salzburg, Austria",

year = "2016",

doi = "10.1016/j.ajhg.2016.06.027",

language = "English",

volume = "99",

pages = "674--682",

journal = "AMERICAN JOURNAL OF HUMAN GENETICS ",

issn = "0002-9297",

publisher = "Elsevier ",

number = "3",

}

Kennedy, H, Haack, TB, Hartill, V, Mataković, L, Baumgartner, ER, Potter, H, Mackay, R, Alston, CL, O"Sullivan, S, McFarland, R, Connolly, G, Gannon, C, King, R, Mead, S, Crozier, I, Chan, W, Florkowski, CM, Sage, M, Höfken, T, Alhaddad, B, Kremer, LS, Kopajtich, R, Feichtinger, R , Sperl, W, Rodenburg, RJ, Minet, JC, Dobbie, A, Strom, TM, Meitinger, T, George, PM, Johnson, CA, Taylor, RW, Prokisch, H, Doudney, K & Mayr, JA 2016, 'Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.', AMERICAN JOURNAL OF HUMAN GENETICS , vol. 99, no. 3, pp. 674-682. https://doi.org/10.1016/j.ajhg.2016.06.027

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. / Kennedy, Hannah; Haack, Tobias B; Hartill, Verity et al.
In: AMERICAN JOURNAL OF HUMAN GENETICS , Vol. 99, No. 3, 2016, p. 674-682.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.

AU - Kennedy, Hannah

AU - Haack, Tobias B

AU - Hartill, Verity

AU - Mataković, Lavinija

AU - Baumgartner, E Regula

AU - Potter, Howard

AU - Mackay, Richard

AU - Alston, Charlotte L

AU - O"Sullivan, Siobhan

AU - McFarland, Robert

AU - Connolly, Grainne

AU - Gannon, Caroline

AU - King, Richard

AU - Mead, Scott

AU - Crozier, Ian

AU - Chan, Wandy

AU - Florkowski, Chris M

AU - Sage, Martin

AU - Höfken, Thomas

AU - Alhaddad, Bader

AU - Kremer, Laura S

AU - Kopajtich, Robert

AU - Feichtinger, René

AU - Sperl, Wolfgang

AU - Rodenburg, Richard J

AU - Minet, Jean Claude

AU - Dobbie, Angus

AU - Strom, Tim M

AU - Meitinger, Thomas

AU - George, Peter M

AU - Johnson, Colin A

AU - Taylor, Robert W

AU - Prokisch, Holger

AU - Doudney, Kit

AU - Mayr, Johannes A.

N1 - Feichtinger, Sperl, Mayr: Paracelsus Med Univ Salzburg, Dept Pediat, A-5020 Salzburg, Austria

PY - 2016

Y1 - 2016

KW - ATP SYNTHASE DEFICIENCY

KW - SACCHAROMYCES-CEREVISIAE

KW - MUTATIONS

KW - GENE

KW - DEPLETION

KW - SUBUNIT

KW - ACETATE

KW - LIVER

KW - HEART

U2 - 10.1016/j.ajhg.2016.06.027

DO - 10.1016/j.ajhg.2016.06.027

M3 - Original Article

C2 - 27523597

SN - 0002-9297

VL - 99

SP - 674

EP - 682

JO - AMERICAN JOURNAL OF HUMAN GENETICS

JF - AMERICAN JOURNAL OF HUMAN GENETICS

IS - 3

ER -

Kennedy H, Haack TB, Hartill V, Mataković L, Baumgartner ER, Potter H et al. Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. AMERICAN JOURNAL OF HUMAN GENETICS . 2016;99(3):674-682. doi: 10.1016/j.ajhg.2016.06.027

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.

Keywords

Access to Document

Projects

Mitochondriopathy – Network for diagnostics and therapy (GENOMIT)

Cite this