Page 148 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
137
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
666
T
SUCLG1
mutations causing mitochondrial depletion
syndrome with congenital anomalies.
H. C. Andersson, M.
Landsverk, T. Yeh, D. Cejas, D. Singh, L. J. Wong.
667
F A mouse model of mitochondrial complex I
deficiency exhibits progressive cardiac disease and
seizures.
W. J. Craigen, T. Donti, Y. C. Lai, S. Ather, X.
Wehrens, B. H. Graham.
668
T Enzyme function affected by mutations in the
sucrase-isomaltase gene.
J. Huang, Z. Wu, S. Uhrich, C.
R. Scott.
669
F Hyperammonemia and urea cycle homeostasis in
methylmalonic acidemia.
R. J. Chandler, H. Morizono, P.
J. McGuire, C. P. Venditti.
670
T Propionic acidemia: Is there a decreased
in tricarboxylic acid cycle enzyme functions?
K. Chapman, A. Markowitz-Shulman, G. Cunningham,
J. Cabrera-Luque, M. Summar.
671
F Cap myopathy: A distinct form of congenital
myopathy.
S. J. Piteau, G. Smith, S. Ludwin, J. MacKenzie.
672
T Mutations in the phospholipid remodeling
gene
SERAC1
impair mitochondrial function and
intracellular cholesterol trafficking and cause dystonia
and deafness.
E. Morava, S. Wortmann, F. Vaz, T.
Gardeitchik, L. E. L. M. Vissers, J. Schuurs-Hoeijmakers,
R. Rodenburg, A. Grünewald, C. Klein, T. Kozicz, P.
van Hasselt, M. Harakalova, W. Kloosterman, I. Baric´,
K. Naess, Z. Krumina, C. Gilissen, H. Bokhoven, J. A.
Veltman, J. A. M. Smeitink, D. J. Lefeber, R. A. Wevers, A.
P. M. de Brouwer.
673
F Somatic cell diagnostic studies may miss some
patients with mutations in
MMAA
and
MMAB
genes
responsible for isolated methylmalonic aciduria.
L. Dempsey Nunez, M. L. Illson, J. Kent, Q. Huang, A.
Brebner, D. Watkins, B. M. Gilfix, C. Wittwer, D. S. Rosenblatt.
674
T The clinical spectrum of combined malonic
and methylmalonic aciduria, a defect in the
intramitochondrial fatty-acid-biosynthesis pathway.
I. Manoli, J. L. Sloan, J. J. Johnston, L. Peller, J. C. Sapp,
L. G. Biesecker, C. P. Venditti.
675
F Neurochemical profiles in children with
inborn errors of metabolism determined by in vivo
1
H-magnetic resonance spectroscopy.
W. Al-Hertani,
E. Mason, T. Tam, B. Schmitt, S. Blaser, H. Branson, A.
Schulze.
676
T Analyzing functional phenotypes in fibroblasts
from patients with clinically-diagnosed mitochondrial
disease.
B. Graham, T. Donti, A. Bessee, W. Craigen, P.
Bonnen.
677
F Clinical molecular laboratory analysis of the
genes of fatty acid oxidation.
M. T. Hardison, M.
Landsverk, L. Wong.
678
T Fabry disease: Molecular analysis of GLA in
females with no family history.
D. Doheny, I. Nazarenko,
654
T Systematic functional characterization of
cytochrome P450 2E1 promoter variants in the Chinese
Han population.
S. Qin, L. He.
655
T Influence of common polymorphisms in
ABCB1
gene on interaction between methadone and
p-glycoprotein.
Y. Teng, C. Hung, M. Chiou.
Metabolic Disorders
656
T Genetic regulation of circulating glycine
concentration in the Finnish population.
J. Kettunen, T.
Tukiainen, M. Ala-Korpela, J. Eriksson, O. Raitakari, M. R.
Järvelin, T. Lehtimäki, V. Salomaa, M. Perola, A. Palotie,
S. Ripatti.
657
F Functional and physical interaction of the
mitochondrial electron transport chain and fatty acid
oxidation and its disruption in fatty acid oxidation
deficient animals.
J. Vockley, Y. Wang, E. Goetzman, J.
Palmfeldt, N. Gregersen.
658
T Dysregulation of central nervous system
sphingolipid metabolism as a unifying mechanism for
neuro-cognitive manifestations of Gaucher disease
and HIV infection.
A. F. Elias, N. J. Haughey, K. Mackey,
T. Pitman, A. W. Thomas, S. Wakefield, S. P. Yang.
659
F Autism spectrum disorders functioning levels
and metabolic alterations.
N. Arciniegas, N. Linares, M.
Cabrera-Rios, S. Carlo.
660
T Creatine transporter deficiency: Novel mutations
and functional studies.
O. Ardon, X. Yin, N. Longo, A.
Shilon-Hadass, G. Gabis, C. Hoffman, M. Tzadok, G.
Heimer, S. Sadan, B. Ben-Zeev, Y. Anikster.
661
F Mice deficient for succinyl-CoA synthetase
exhibit functionally significant mtDNA depletion and
are a model for mitochondrial disease.
T. Donti, M. Ge,
K. Eldin, B. Graham.
662
T Role of medium chain acyl-CoA dehydrogenase
in the metabolism of sodium phenylbutyrate.
K. Kormanik, H. Kang, D. Cuebas, B. Scharschmidt, J.
Vockley, A.-W. Mohsen.
663
F Common dysfunctional variants of
ABCG2
decrease extra-renal urate excretion and cause
hyperuricemia.
H. Matsuo, T. Takada, A. Nakayama,
T. Shimizu, H. Kasuga, H. Nakashima, T. Nakamura, Y.
Takada, Y. Kawamura, Y. Utsumi, H. Ogata, M. Nakamura,
Y. Sakurai, T. Hosoya, N. Shinomiya, H. Suzuki, K. Ichida.
664
T Exploring the phenotype of MMACHC deficiency
(
cblC
)
in zebrafish with morpholinos and zinc finger
nuclease targeted mutagenesis.
J. L. Sloan, K. Bishop, T.
L. Blake, R. J. Chandler, B. P. Brooks, R. Sood, C. P. Venditti.
665
F Comparative study of gene expression profiling
of skin fibroblasts of Leigh syndrome French Canadian
subjects and controls.
J. Tardif, C. Laprise, LSFC
Consortium.