Page 220 - ASHG 2013 Program Guide

POSTER SESSIONS
  207
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
2310
F MicroRNA-486 overexpression delays the
disease pathology of dystrophin-deficient muscle
M. S. Alexander, J. C. Casar, N. Motohashi, N. M. Vieira,
M. J. Gasperini, J. A. Myers, E. A. Estrella, P. B. Kang,
F. Shapiro, G. Kawahara, E. Gussoni, L. M. Kunkel.
2311
T Epigenetic upregulation of survival of motor
neuron 2 (SMN2) protein by oligonucleotides targeting
long non-coding RNA.
K. M. Hussey, R. Davey,
E. Brand, D. Knowlton, B. Schwartz, R. Subramanian,
J. McSwiggen, A. Krieg, J. Keil, H. Cardona, C. DiDonato,
J. Barsoum.
2312
F Towards the therapy for Angelman syndrome.
L. Meng, A. Award, F. Rigo, A. Beaudet.
Metabolic Disorders
2313
T Decoding the biochemistry of Snyder-Robinson
syndrome: Using yeast to model the polyamine
biosynthetic defect.
J. S. Albert, M. K. Chattopadhyay,
W. Bone, L. A. Wolfe, W. A. Gahl, C. F. Boerkoel.
2314
F Secondary coenzyme Q10 deficiency in patients
with
BRAF
mutations.
E. Trevisson, M. A. Desbats, C.
Cerqua, M. Doimo, A. Casarin, C. Santos-Ocanˇ a, P. Navas
Lloret, L. Salviati.
2315
T Fine-mapping of the
Atp7a
promoter deletion
and biochemical characterization in the
mottled-
dappled
mouse model of Menkes disease.
M. R.
Haddad, K. Patel, P. Sullivan, D. S. Goldstein, J. A.
Centeno, S. G. Kaler.
2316
F Defective autophagy limits IL-1 beta
production by eliminating active inflammasomes in
human Gaucher macrophages.
E. Aflaki, N. Moaven,
B. Stubblefield, G. Lopez, E. Sidransky.
2317
T Resistin increases the expression of
aggrecanases in human chondrocytes.
K. O. Yaykasli,
E. Yaykasli, E. Kaya, M. Ozsahin, M. Uslu.
2318
F Small molecule inhibition of glucosylceramide
synthase affects bone remodeling in mice.
A. J. Leger,
Z. Luo, I.-H. Wu, N. S. Yew, S. Ryan, K. Malley, L. Sweet,
S. Schiavi, T. K. Sampath, S. H. Cheng.
2319
T Fat mass and obesity-associated (FTO) protein
interacts with CamKII and modulates the activity of
CREB signaling pathway.
L. Lin, P. Jin.
2320
F An infantile case of hepatomegaly, lactic
acidosis, hypoglycemia, ketosis, and hyperlipidemia
of unknown etiology.
Y. Watanabe, Y. Seki, T. Yanagi,
T. Mizuochi, T. Takeuchi, J. Iwamoto, M. Yoshino, S.
Watanabe, T. Inokuchi, S. Yano, K. Yoshiura, T. Matsuishi.
2321
T Delineation of renal-independent disease
mechanism underlying hyperphosphatemic familial
tumoral calcinosis caused by
GALNT3
mutations.
S. G. Ziegler, Y. Yang, D. Malhotra, M. T. Collins, N.
Bhattacharyya, R. I. Gafni, W. A. Gahl, H. C. Dietz.
2298
F Genotoxicity following AAV gene therapy for
methylmalonic acidemia in mice.
R. J. Chandler, A.
A. Ashok, G. K. Varshney, M. C. LaFave, W. Wu, V. J.
Hofffmann, A. G. Elkahloun, S. M. Burgess, C. P. Venditti.
2299
T Developing resources to alleviate muscle
atrophy in FSHD by genome engineering.
S. Das, B. P.
Chadwick.
2300
F Gene therapy for mucopolysaccharidosis VII:
Evaluation of intrathecal rAAV vectors in the canine
model.
B. L. Gurda, P. Wang, P. Bell, J. Bagel, T. Sikora,
P. O’Donnell, Y. Zhu, H. Yu, T. Ruane, R. Calcedo, M.
Casal, C. H. Vite, K. P. Ponder, J. M. Wilson, M. E. Haskins.
2301
T Translational fidelity of intrathecal delivery
of scAAV9-
SMN1
for spinal muscular atrophy.
M. A.
Passini, J. Bu, A. M. Richards, C. M. Treleaven, C. R.
O’Riordan, A. Scaria, A. P. Kells, L. Samaranch, W. San
Sebastian, T. Federici, M. S. Fiandaca, N. M. Boulis, K. S.
Bankiewicz, L. S. Shihabuddin, S. H. Cheng.
2302
F Treatment of MFRP (Membrane frizzled-related
protein)-related degeneration in patient-specific stem
cells and a preclinical mouse model.
Y. Li, Y. T. Tsai, C.
W. Hsu, W. H. Wu, S. H. Tsang.
2303
T The combined use of cis-acting genetic
elements to enhance non-viral plasmid stability in
mammalian cells.
B. Abbas, M. A. K. Abdalla, M. El-
Mogy, B. Lam, V. Misic, Y. Haj-Ahmad.
2304
F Expression of human GNE through adeno-
associated virus mediated therapy delays progression
of myopathy in the GNE myopathy mouse model.
M.
C. Malicdan, T. Okada, S. Takeda, F. Funato, M. Huizing, I.
Nonaka, Y. K. Hayashi, Z. Argov, I. Nishino, S. Mitrani-
Rosenbaum, S. Noguchi.
2305
T Antisense therapy for genetic disorders.
T. R.
Grossman.
2306
F Acute hepatic porphyrias: Inhibition of hepatic
ALAS1 with an RNAi therapeutic provides effective
prevention and treatment of induced acute attacks
in acute intermittent porphyria mice.
M. Yasuda,
L. Gan, C. Yu, W. Querbes, A. Liebow, K. Fitzgerald,
R. J. Desnick.
2307
T Silencing mutant Htt by AAV-mediated
expression of RNAi ameliorates disease manifestations
in the YAC128 mouse model of Huntington’s disease.
L. M. Stanek, P. S. Sardi, B. Mastis, A. Richards, S. H.
Cheng, L. S. Shihabuddin.
2308
F Hematopoeitic-stem-cell based therapy for
HIV disease.
J. Bodor, J. Chalupnikova, K. Pavelcova,
J. Jencik, R. Klubal, gp120 Consortium.
2309
T Lipid storage and impaired function in iPSC
and monocyte -derived Gaucher macrophages are
reversed with a non-inhibitory chaperone.
E. Sidransky,
E. Aflaki, N. Tayebi, B. Stubblefield, E. Maniwang, G.
Lopez, E. Goldin, S. Patnaik, J. Marugan.