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APBDRF Scientific Advisory Board Meeting December 2013: Research Update
1. 2013 Research Update
APBDRF
H. Orhan AKMAN, PhD
Dr. DiMauroâs Laboratory
Columbia University Medical Center
Department of Neurology
New York
2. Adult Polyglucosan Body Disease
Diagnosis, and Development of tools for Research and Treatment
ďMouse model of APBD
ďPossible Pharmacological
Treatments of APBD
ďDiagnosis of Manifesting
Heterozygote Patients
3. Mouse model of APBD with Y329S
mutation
Generation of mouse model of APBD:
Y329S TAT to TCT
Tyr
Ser
FRT
LoxP
5â ARM 2.1 kb
5â ARM
Exon 7
Exon 7
PGK- Neomycin
3âARM 6.5 kb
3âARM
4. Breeding scheme and expected
genotypes
Y329S TAT to TCT
Tyr
Ser
FRT
LoxP
5â ARM 2.1 kb
5â ARM
1
Exon 7
PGK-Neomycin
3âARM 6.5 kb
3âARM
Exon 7
2
1
5. Expected & other genotypes
Y329S-Neo
5â
Exon 7
PGK-Neomycin
3â
Exon 7
PGK-Neomycin
3â
WT-Neo
5â
Y329S
5â
Exon 7
3â
Exon 7
3â
WT-lox
5â
Exon-7 del or D
5â
3â
16. High throughput screening
ďWe have tested 1700 FDA approved
compounds.
ďAnalysis has yield 15 compounds decreasing
PGB content in tissue culture