Call Girl Lucknow Mallika 7001305949 Independent Escort Service Lucknow
APBDRF Scientific Advisory Board Meeting December 2013: Research Update
1. 2013 Research Update
APBDRF
H. Orhan AKMAN, PhD
Dr. DiMauro’s Laboratory
Columbia University Medical Center
Department of Neurology
New York
2. Adult Polyglucosan Body Disease
Diagnosis, and Development of tools for Research and Treatment
Mouse model of APBD
Possible Pharmacological
Treatments of APBD
Diagnosis 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
5’ ARM 2.1 kb
5’ ARM
Exon 7
Exon 7
PGK- Neomycin
3’ARM 6.5 kb
3’ARM
4. Breeding scheme and expected
genotypes
Y329S TAT to TCT
Tyr
Ser
FRT
LoxP
5’ ARM 2.1 kb
5’ ARM
1
Exon 7
PGK-Neomycin
3’ARM 6.5 kb
3’ARM
Exon 7
2
1
5. Expected & other genotypes
Y329S-Neo
5’
Exon 7
PGK-Neomycin
3’
Exon 7
PGK-Neomycin
3’
WT-Neo
5’
Y329S
5’
Exon 7
3’
Exon 7
3’
WT-lox
5’
Exon-7 del or D
5’
3’