Page 114 - ASHG 2013 Program Guide

INVITED AND PLATFORM SESSIONS  
 101
Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.
INVITED AND PLATFORM SESSIONS
Thursday, October 24
2:00
PM
–4:15
PM
Concurrent Platform (abstract-driven)
Session C (28-36)
SESSION 36 – Biochemical and Clinical Consequences
of Mitochondrial Dysfunction
Grand Ballroom CDE, Concourse Level, Westin Boston
Waterfront Hotel
Moderators
:
Nancy E. Braverman, McGill Univ.
Devin Oglesbee, Mayo Clin.
241
/2:00
Phenotype and genotype in 17 patients
with succinate-CoA ligase deficiency caused by
mutations in
SUCLA2
and
SUCLG1
.
E. Oestergaard,
M. Rasmussen, H. Amartino, I. F. de Coo, D. C. Buhas,
S. Mesli, K. Naess, M. Tulinius, N. Darin, M. Duno, P.
Jouvencel, I. Redonnet-Vernhet, F. Wibrand, E. Holme.
242
/2:15
Restoration of the mitochondrial citrate
transporter by overexpression of
SLC25A1
in
primary deficient fibroblasts of patients with
combined D-2- and L-2-hydroxyglutaric aciduria.
G.
S. Salomons, E. A. Struys, A. Pop, E. E. Jansen, M. R.
Fernandez Ojeda, W. A. Kanhai, M. Kranendijk, S. J.
M. van Dooren, M. R. Bevova, E. A. Sistermans, A. W.
M. Nieuwint, M. Barth, T. Ben-Omran, G. F. Hoffmann,
P. de Lonlay, M. T. McDonald, A. Meberg, A. C.
Mühlhausen, C. Muntau, J.-M. Nuoffer, R. Parini, M.-
H. Read, A. Renneberg, R. Santer, T. Strahleck, E. van
Schaftingen, M. S. van der Knaap, C. Jakobs, B. Nota.
243
/2:30
Unprocessed RNA intermediates
interfere with mitochondrial translation and cause
respiratory chain deficiency.
R. Kopajtich, T. B.
Haack, P. Freisinger, T. Wieland, J. Rorbach, T. J.
Nicholls, E. Baruffini, A. Walther, K. Danhauser, F. A.
Zimmermann, R. A. Husain, H. Mundy, I. Ferrero, T.
M. Strom, T. Meitinger, R. W. Taylor, M. Minczuk, J. A.
Mayr, H. Prokisch.
244
/2:45
Mutations in the cytochrome c1
subunit of respiratory chain complex III cause
insulin-responsive hyperglycemia and recurrent
ketoacidosis.
J. Christodoulou, P. Gaignard, M.
Menezes, M. Schiff, A. Bayot, M. Rak, H. Ogier de
Baulny, C.-H. Su, M. Gilleron, A. Lombes, H. Abida,
A. Tzagoloff, L. Riley, S. T. Cooper, K. Mina, M. R.
Davis, R. J. N. Allcock, N. Kresoje, N. G. Laing, D. R.
Thorburn, A. Slama, P. Rustin.
245
/3:00
Mutations in
FBXL4
cause mitochondrial
encephalopathy and a disorder of mitochondrial
DNA maintenance.
R. W. Taylor, J. W. Yarham, A.
Besse, P. Wu, E. A. Faqeih, A. M. Al-Asmari, M. A. M.
Saleh, W. Eyaid, A. Hadeel, L. He, F. Smith, S. Yau, E.
M. Simcox, S. Miwa, T. Donti, K. K. Ab-Amero, L.-J.
Wong, W. J. Craigen, B. H. Graham, K. L. Scott, R.
McFarland, P. E. Bonnen.
246
/3:15
A lipomatosis endophenotype in
methylmalonic acidemia: Evidence from patients
and mice.
I. Manoli, J. R. Sysol, M. K. Crocker, G.
Niu, J. Storrar, S. Mendelson, J. L. Sloan, C. Wang,
Y. Ktena, P. M. Zerfas, V. Hoffman, H. J. Vernon, A.
Hamosh, J. C. Reynolds, X. Chen, O. Gavrilova, J. A.
Yanovski, C. P. Venditti.
247
/3:30
Moonlighting in mitochondria:
ACAD9
plays a dual role in energy metabolism.
M. Schiff,
B. M. Haberberger, E. S. Goetzman, A. W. Mohsen, H.
Prokisch, J. Vockley.
248
/3:45
Primary ovarian insufficiency is caused
by recessive partial loss-of-function mutations in
genes for mitochondrial protein homeostasis.
S. B.
Pierce, T. Walsh, S. Gulsuner, M. K. Lee, M.-C. King.
249
/4:00
mtDNA mutations variously impact mtDNA
maintenance throughout the human embryo/fetal
development.
S. Rondeau, S. Monnot, P. Vachin,
E. Herzog, B. Bessiere, N. Gigarel, D. Samuels, L.
Hesters, N. Frydman, G. Chalouhi, S. Gobin Limballe,
M. Rio, A. Rotig, A.-S. Lebre, A. Benachi, L. Salomon,
A. Munnich, J.-P. Bonnefont, J. Steffann.