Page 153 - ASHG 2012 Annual Meeting Program Guide

W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
S. Cavalieri, E. Pozzi, R. Cavalli, R. A. Gatti, A. Brusco.
W In utero brain-directed AAV gene therapy results
in rapid, robust, and specific transduction of mouse
choroid plexus epithelia.
M. Haddad, A. Donsante, S. G.
W Gene and stem cell treatment for alpha-1
antitrypsin deficiency.
B. Feinerman.
W Identifying motor neuron transduction
efficiencies that are efficacious in SMA mice and
achievable by intrathecal delivery in a large animal
S. Cheng, M. Passini.
W Differential response to exogenous MeCP2 in
mouse models of Rett syndrome.
J. Young, V. Camarena,
M. Saez, A. Abrams, K. Bayetti, A. Castle, K. Walz.
W Preclinical trial of trauma-induced osteoarthritis
therapy by overexpressing matrix protein and reducing
inflammation by gene-transfer.
M. Z. C. Ruan, K. Guse,
A. Erez, B. C. Dawson, Y. Chen, B. Lee.
W Towards lentiviral gene therapy for the treatment
R. De Coo, M. Stok, R. Yadak, H. Smeets, N.
Van Til, G. Wagemaker.
W Directing miRNA-regulatory PNAs to breast
cancer cells with synthetic targeting peptides.
Y.-Y. Jin,
C.-P. Chen, M. L. Thakur, E. Wickstrom.
W Effective inhibition of human cytomegalovirus gene
expression and lytic replication by DNA-based external
guide sequence.
H. Li, X. Jia, L. Sun, T. Zhou, Z. Deng.
W Oncogenic
allele specific inhibition by
RNA interference for cancer therapy lacking adverse
M. Takahashi, T. Chiyo, T. Okada, H. Hohjoh.
W Remission induction of spinocerebellar ataxia 6
by systems therapy with medicinal herbs.
T. Okabe.
W Disease progression in MPS IIIA (Sanfilippo
syndrome type A) is associated with genotype and age
at diagnosis.
C. B. Whitley, I. Nestrasil, K. Delaney, R.
Cooksley, P. Haslett, C. Richard, E. Shapiro.
W Therapeutic efficacy of D-penicillamine
encapsulated alginate/chitosan nanoparticles in rat model
of copper toxicity with neurobehavioral impairments.
R. Prasad, A. Pal, S. Attri, B. Thappa, R. Vasishta.
W High-efficiency gene correction of a Parkinson’s
disease associated
gene variant in patient-
derived iPS cells.
B. Schuele, J. Laganiere, S. K. Mak,
B. J. Vu, M. Vangipuram, Y. A. Huang, D. E. Paschon, O.
Macaranas, A. Flierl, R. Sundararajan, P. D. Gregory, F. D.
Urnov, J. W. Langston, H. S. Zhang.
W Inhibition of CTR1 by antisense oligonucleotides
in mouse model for Wilson disease reduces copper
accumulation and improves liver pathology.
T. R.
Grossman, P. Lincoln, M. McCaleb.
syndrome: Response, suggested protocol and future
directions in treatment.
M. D. Irving, W. M. Drake, J.
Pittaway, D. Dafou, M. A. Simpson, R. T. Trembath.
W A small chemical, TG003, enhances skipping of
mutated dystrophin exons: The third example revealing
a decrease of exonic splicing enhancer density in
A. Nishida, Y. Takeshima, N. Kataoka, M. Yagi,
H. Awano, T. Lee, K. Iijima, M. Hagiwara, M. Matsuo.
W Bezafibrate as treatment option in patients with
mitochondrial complex I deficiency.
B. M. Haberberger,
P. Freisinger, V. Strecker, M. Steger, H. Heide, B. F. Müller,
T. Beckhaus, K. Heim, U. Ahting, B. Rolinski, J. Mayr,
A. Rötig, W. Sperl, M. Zeviani, I. Wittig, T. Meitinger, H.
W FMF patients homozygous for M694V have
incomplete response to colchicine.
H. Yonath, M. Lidar,
N. Shechter, F. Sikron, S. Sadetzki, P. Langevitz, A. Livneh,
E. Pras.
W CNS administration of recombinant human
tripeptidyl peptidase-1 attenuates neurodegeneration,
improves function, and increases lifespan in a canine
model of classical late infantile neuronal ceroid
B. Vuillemenot, M. Katz, D. Kennedy, J.
Coates, C. Sibigtroth, R. Whiting, F. Wininger, R. Reed,
E. Adams, M. Butt, R. Cahayag, S. Keve, L. Tsuruda, D.
Musson, C. O’Neill.
W Intrathecal enzyme replacement therapy
improves diffusion tensor imaging abnormalities
and volume loss in the corpus callosum in canine
mucopolysaccharidosis I.
P. Dickson, S. Chen, I.
Nestrasil, V. Kovac, J. Jens, S. Q. Le, S.-h. Kan, M. A.
Guzman, J. Provenzale, E. G. Shapiro, C. H. Vite, A.
Mlikotic, N. M. Ellinwood.
W Enzyme replacement therapy using chemically
modified enzyme markedly enhances therapeutic
efficacies for bone lesions in mucopolysaccharidosis
VII murine model.
S. Tomatsu, D. Rowan, J. Grubb, B.
Haupt, A. Montaño.
W A phase 2 multicenter, open label, switch
over trial to evaluate the safety and efficacy of
Abcertin®(imiglucerase) in patients with type 1
Gaucher disease previously treated with imiglucerase.
H. W. Yoo, B. H. Lee, J. S. Lee, J. M. Ko, Y. B. Sohn.
W Results of 12 months use of taliglucerase alfa
for Gaucher disease in an unselected cohort of adult
patients on an Israeli compassionate use program.
Zimran, H. Maayan, G. Altaescu, M. Tiomkin, M. Phillips,
D. Elstein.
W Gaucher disease type 2: Outcomes of enzyme
replacement therapy and impact on quality of life.
C. Prada, R. Hopkin, L. Bailey, A. Lovell, N. Leslie, G.
W Efficiency of various antisense oligonucleotides
for correcting ATM pre-mRNA in a patient with ataxia-
telangiectasia with a deep intronic splicing mutation.