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Tay-Sachs disease is an autosomal recessive genetic disorder resulting from mutation of the HEXA gene encoding the alpha-subunit of the lysosomal enzyme, beta-N-acetylhexosaminidase A (ref. 1). A relatively high frequency of carriers (1/27) of a lethal, infantile form of the disease is found in the Ashkenazi Jewish population, but it is not yet evident… (More)
The lysosomal enzyme beta-hexosaminidase A contains alpha- and beta-subunits that are encoded by the HEXA and HEXB genes, respectively. The human HEXB gene has been isolated and characterized. It is 45 kb long and is split into 14 exons. Of the 13 introns, 12 interrupt the coding sequences at homologous positions in the HEXA and HEXB genes. The 5' flanking… (More)
Propionic acidemia is an inborn error of metabolism resulting from a deficiency of propionyl-CoA carboxylase activity. The alpha- and beta-subunits of the enzyme are encoded by the PCCA and PCCB genes, respectively. Using direct sequencing and restriction digests of amplified reverse transcripts and genomic DNA, we have identified two mutations of the PCCB… (More)
[To freethinking] iv ACKNOWLEDGEMENTS I would like to thank my advisor, Dr. Santamarina, for the opportunity to work and study in his group. His patience, dedication and insightful comments were the keystone for the success of this thesis. Also, I would like to thank to my thesis suggestions and exceptional courses taught at Georgia Tech. I want to express… (More)
This study was designed to examine the effect of intrastriatal administration of MPTP on (+)-amphetamine-induced circling behaviour in mice. The results demonstrate that (+)-amphetamine elicits circling behaviour in MPTP-lesioned animals. MPTP produced a 70% depletion of striatal dopamine concentration.