Targeting of hexokinase 1 to liver and hepatoma mitochondria.
Gelb, B D, Adams, V, Jones, S N, Griffin, L D, MacGregor, G R, McCabe, E R
The proportion of hexokinase (HK; EC 2.7.1.1) isozyme 1 (HK1) that is bound to the outer mitochondrial membrane is tissue specific and developmentally regulated. HK activity is known to be markedly...
McCabe, E R, Towbin, J, Chamberlain, J, Baumbach, L, Witkowski, J, Van Ommen, G J, ...
Genomic DNA from a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia was investigated using cDNA probes for the Duchenne muscular dystrophy (DMD) locus....
Whyte, M P, Mahuren, J D, Fedde, K N, Cole, F S, McCabe, E R, Coburn, S P
"Perinatal" hypophosphatasia is the most severe form of this inborn error of metabolism, which is characterized by deficient activity of the tissue-nonspecific (liver/bone/kidney) isoenzyme of...
Lupski, J R, Zhang, Y H, Rieger, M, Minter, M, Hsu, B, Ooi, B G, ...
Transposon Tn5 mutagenesis of the Escherichia coli chromosome was used to isolate 21 independent insertion mutations conferring an altered colony color phenotype on MacConkey-glycerol plates. The...
DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
Zhang, Y H, Guo, W, Wagner, R L, Huang, B L, McCabe, L, Vilain, E, ...
The DAX1 protein is an orphan nuclear hormone receptor based on sequence similarity in the putative ligand-binding domain (LBD). DAX1 mutations result in X-linked adrenal hypoplasia congenita (AHC)....
McCabe, E R, Towbin, J A, Trask, B J
Bivariate flow karyotyping was used to estimate the deletion sizes for a series of patients with Xp21 contiguous gene syndromes. The deletion estimates were used to develop an approximate scale for...
Pillers, D A, Towbin, J A, Chamberlain, J S, Wu, D, Ranier, J, Powell, B R, ...
Aland Island Eye Disease (AIED) is an X-linked form of ocular hypopigmentation--also known as Forsius-Eriksson, or type 2, ocular albinism--in which affected males demonstrate subnormal visual...
Carrier screening for phenylketonuria: comparison of two discriminant analysis procedures.
Freehauf, C L, Lezotte, D, Goodman, S I, McCabe, E R
Absence of a convenient, direct enzyme assay for detecting phenylketonuria (PKU) heterozygotes has resulted in continued effort to develop an accurate and reliable procedure to discriminate the...
Targeting of hexokinase 1 to liver and hepatoma mitochondria.
Gelb, B D, Adams, V, Jones, S N, Griffin, L D, MacGregor, G R, McCabe, E R
The proportion of hexokinase (HK; EC 2.7.1.1) isozyme 1 (HK1) that is bound to the outer mitochondrial membrane is tissue specific and developmentally regulated. HK activity is known to be markedly...
McCabe, E R, Towbin, J, Chamberlain, J, Baumbach, L, Witkowski, J, Van Ommen, G J, ...
Genomic DNA from a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia was investigated using cDNA probes for the Duchenne muscular dystrophy (DMD) locus....
Whyte, M P, Mahuren, J D, Fedde, K N, Cole, F S, McCabe, E R, Coburn, S P
"Perinatal" hypophosphatasia is the most severe form of this inborn error of metabolism, which is characterized by deficient activity of the tissue-nonspecific (liver/bone/kidney) isoenzyme of...
Lupski, J R, Zhang, Y H, Rieger, M, Minter, M, Hsu, B, Ooi, B G, ...
Transposon Tn5 mutagenesis of the Escherichia coli chromosome was used to isolate 21 independent insertion mutations conferring an altered colony color phenotype on MacConkey-glycerol plates. The...
DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
Zhang, Y H, Guo, W, Wagner, R L, Huang, B L, McCabe, L, Vilain, E, ...
The DAX1 protein is an orphan nuclear hormone receptor based on sequence similarity in the putative ligand-binding domain (LBD). DAX1 mutations result in X-linked adrenal hypoplasia congenita (AHC)....
McCabe, E R, Towbin, J A, Trask, B J
Bivariate flow karyotyping was used to estimate the deletion sizes for a series of patients with Xp21 contiguous gene syndromes. The deletion estimates were used to develop an approximate scale for...
Pillers, D A, Towbin, J A, Chamberlain, J S, Wu, D, Ranier, J, Powell, B R, ...
Aland Island Eye Disease (AIED) is an X-linked form of ocular hypopigmentation--also known as Forsius-Eriksson, or type 2, ocular albinism--in which affected males demonstrate subnormal visual...
Carrier screening for phenylketonuria: comparison of two discriminant analysis procedures.
Freehauf, C L, Lezotte, D, Goodman, S I, McCabe, E R
Absence of a convenient, direct enzyme assay for detecting phenylketonuria (PKU) heterozygotes has resulted in continued effort to develop an accurate and reliable procedure to discriminate the...
Genetic screening for the next decade: application of present and new technologies.
Molecular genetic technology is diffusing from the research laboratory to the clinical laboratory, where it has already begun to influence prenatal diagnosis and counseling. In the very near future,...