Page 219 - ASHG 2013 Program Guide

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POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
2285
T Development of a high-throughput screen for
mRNA splicing modulators of
IKBKAP
.
F. Urbina, M.
Nilbratt, E. Morini, M. Salani, S. Slaugenhaupt.
2286
F Paradigm shift for the treatment of cognitive
deficits in Down synd ome: A novel drug treatment
rescues hippocampal deficits in the s65Dn mouse.
J.
R. Korenberg, P. West, K. Wilcox, G. Smith, R. Kesner.
2287
T Sorbent therapy of erythropoietic
protoporphyria.
P. Tishler.
2288
F Fusion with angiopep-2 to create proteins that
cross the blood-brain barrier and are taken up into
cells.
J. E. Lachowicz, M. Demeule, A. Regina, D. Boivin,
A. Larocque, J.-P. Castaigne.
2289
T Novel method for oral administration of ERT
for the treatment of Gaucher disease.
M. Golembo, S.
Velitzki, R. Chertkoff, E. Brill-Almon, Y. Shaaltiel.
2290
F Preliminary findings evaluating
safety and efficacy of ecombinant human
N-acetlygalactosamine-6-sulfatase in
pediatric patients less than 5 years of age with
mucopolysaccharidosis IVA (Morquio A syndrome).
C. Haller, S. A. Jones, P. Harmatz, M. Bialer, R. Parini, K.
Martin, P. Farmer, P. Slasor.
2291
T Survival rates and timing of initiation of treatment
with enzyme replacement therapy among patients
with classic infantile-onset Pompe disease enrolled in
the Pompe Registry.
P. S. Kishnani, S. Jones, A. van der
Ploeg, E. Mengel, B. Byrne, A. Vellodi, N. Leslie, S. Shankar,
P. Tanpaiboon, D. W. Stockton, J. B. Hennermann, Z.
Devecseri, J. Kempf, J. Keutzer, Y.-H. Chien.
2292
F PRX-102: An efficient plant exp essed ERT
for Fabry disease.
A. Paz, T. Kizhner, A. Schulman, M.
Golembo, E. Brill-Almon, Y. Shaaltiel.
2293
T The influence of a polymorphism in the gene
encoding angiotensin converting enzyme on treatment
outcomes in late-onset Pompe patients receiving
alglucosidase alfa.
R. C. Baek, R. E. Palmer, R. J.
Pomponio, A. J. Mcvie-Wylie.
2294
F Polymeric nanocarriers as vehicles for the
treatment of lysosomal storage diseases.
M. Latorre-
Esteves, A. Román.
2295
T Augmenting glucocerebrosidase activity in the
CNS as a therapeutic strategy for Gaucher-related
synucleinopathies.
P. Sardi, J. Clarke, C. Viel, M. Chan,
C. Treleaven, J. Bu, L. Sweet, M. Passini, J. Dodge, L.
Stanek, S. Cheng, L. Shihabuddin.
2296
F Permanent genetic modification of dividing cells
using episomally maintained S/MAR DNA vectors and
the correction of a cancer phenotype in renal tumour
cells.
R. Harbottle, S. P. Wong.
2297
T Brain-directed recombinant AAVrh10-ATP7A
plus subcutaneous copper histidine extends lifespan
in the
mo-br
model of Menkes disease.
E. Y. Choi, M. R.
Haddad, K. Patel, S. G. Kaler.
2273
T Successful pregnancy and lactation in a woman
with mucopolysaccharidosis type I treated with
laronidase.
Y. Xue, M. Castorina, D. Antuzzi, C. Sung, S.
Richards, G. Cox.
2274
F ENCORE: A randomized, controlled, open-
label non-inferiority study comparing eliglustat to
imiglucerase in Gaucher disease type 1 patients
on enzyme replacement therapy who have reached
therapeutic goals.
M. Balwani, T. M. Cox, G. Drelichman,
R. Cravo, T. Burrow, A. M. Martins, E. Lukina, B.
Rosenbloom, L. Ross, J. Angell, A. C. Puga.
2275
T The adverse event profile of eliglustat for the
treatment of Gaucher disease type 1: Results from
a pooled analysis of four trials.
R. Mankoski, M. J.
Peterschmitt, A. C. Puga, G. F. Cox, S. Marulkar, J. Angell,
B. Gaemers, L. Ross.
2276
F ENGAGE: A phase 3, randomized, double-blind,
placebo-controlled, multi-center study to investigate
the efficacy and safety of eliglustat in adults with
Gaucher disease type 1: 9 month results.
S. Packman,
D. Amato, M. Dasouki, G. Pastores, S. Assouline, M.
Balwani, P. K. Mistry, S. Shankar, M. J. Peterschmitt.
2277
T Translating ManNAc into a novel therapeutic
agent for patients with GNE myopathy.
F. V. Celeste, L.
Latham, J. DeDios, C. Ciccone, C. Robinson, J. McKew,
M. Huizing, W. A. Gahl, N. Carrillo-Carrasco.
2278
F Evaluation of computed tomography in vivo to
assess the therapeutic potential of cystine analogs
as inhibitors of cystine stone formation in
Slc3a1
knockout mice.
A. Sahota, J. Parihar, M. Yang, D. Adler,
W. Kim, D. Gordon, J. A. Tischfield.
2279
T Pharmacologic inhibition of cytosolic translation
offers a novel therapeutic approach for mitochondrial
respiratory chain disease.
M. J. Falk, M. Peng, M.
Tsukikawa, J. Baur, Z. Zhang, D. Gasser.
2280
F Drug screening using the dystroglycan null
zebrafish
G. Kawahara, J. Widrick, V. Gupta, J. Myer, M.
Gasperini, A. Beggs, L. Kunkel.
2281
T Genetic and pharmacological reduction of
ER stress rescues glaucoma in a murine model of
glucocorticoid-induced glaucoma.
G. Zode, A. Sharma,
X. Lin, C. Searby, K. Bugge, A. Clark, V. Sheffield.
2282
F Sildenafil citrate esults in upregulation of heme
oxygenase 1 and alleviation of symptoms in the
mdx
5
cv
mouse model of Duchenne muscular dystrophy.
M.
Gasperini, G. Kawahara, J. Widrick, M. Alexander, L.
Kunkel.
2283
T Developing small molecule inhibitors of p97/VCP
disease mutants for neurodegenerative diseases.
T.-F.
Chou, C. C. Weihl, R. J. Deshaies.
2284
F Rho kinase inhibition therapy for cerebral
cavernous malformations.
D. A. Marchuk, D. A.
McDonald, R. Shenkar, C. Shi, C. J. Gallione, C. Austin, A.
G. Mikati, I. A. Awad.