Výsledky vyhledávání - "Beverly R. Akerman"

Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria

Autor: Beverly R. Akerman, Charles R. Scriver, A. O. Jones, Michael A. Parniak, Paula J. Waters

Publikováno v: Journal of Inherited Metabolic Disease. 22:208-212

Phenylketonuria (PKU; McKusick 261600) and related forms of hyperphenylalaninaemia (HPA) are caused by defective activity of the hepatic enzyme phenylalanine hydroxylase (PAH; EC 1.14.16.1). Over 380 alleles of the PAH gene are known, of which over 6

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d04ab9560b510ffc3dba9fe11fd69be4
https://doi.org/10.1023/a:1005533825980

Zobrazit plný text záznamu

Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases

Autor: Jamey D. Marth, Jing-Qi Huang, Daniel Phaneuf, Alan C. Peterson, Anita Borowski, Guylaine Benoit, Beverly R. Akerman, Gerd Ritter, Carlos R. Morales, Daniel Leclerc, Roy A. Gravel, Nobuaki Wakamatsu, Suleiman A. Igdoura, Nobuo Hanai, Jacquetta M. Trasler, Sheila R. Fortunato

Publikováno v: Human Molecular Genetics. 5:1-14

We have generated mouse models of human Tay-Sachs and Sandhoff diseases by targeted disruption of the Hexa (alpha subunit) or Hexb (beta subunit) genes, respectively, encoding lysosomal beta-hexosaminidase A (structure, alpha) and B (structure, beta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::490d48908ff3c1edb11493e12a23a512
https://doi.org/10.1093/hmg/5.1.1

Zobrazit plný text záznamu

Molecular basis of hexosamininidase a deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch

Autor: Thaddeus E. Kelly, George H. Thomas, Beverly R. Akerman, Carol E. Dowling, Susan J. Hayflick, Emilie H. Mules, Roy A. Gravel

Publikováno v: Human Mutation. 1:298-302

Following the birth of two infants with Tay-Sachs disease (TSD), a non-Jewish, Pennsylvania Dutch kindred was screened for TSD carriers using the biochemical assay. A high frequency of individuals who appeared to be TSD heterozygotes was detected (Ke

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f11d283ed7741157be0c4029138907b
https://doi.org/10.1002/humu.1380010406

Zobrazit plný text záznamu

Reflections on the birth of conjoined twins

Autor: Beverly R. Akerman

I was interested in Ken Walker's article[1][1] as I had just read a discussion of the happiness of conjoined twins in a new book by Harvard psychologist Daniel Gilbert.[2][2] Gilbert comments on twins Lori and Reba Schappel, who are joined at the for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a432c97847147be33f25ee33103ffbc
https://europepmc.org/articles/PMC2043064/

Zobrazit plný text záznamu

Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype

Autor: Charles R. Scriver, Beverly R. Akerman, Paula J. Waters, Michael A. Parniak

Publikováno v: Molecular genetics and metabolism. 69(2)

Missense mutations account for 48% of all reported human disease-causing alleles. Since few are predicted to ablate directly an enzyme's catalytic site or other functionally important amino acid residues, how do most missense mutations cause loss of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94c3bdcb57d748b78c6526c128e24e99
https://pubmed.ncbi.nlm.nih.gov/10720436

Zobrazit plný text záznamu

Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli

Autor: Nobuaki Wakamatsu, Roy A. Gravel, Daniel Leclerc, Beverly R. Akerman, Alfonso Leon-del-Rio

Holocarboxylase synthetase (HCS) catalyzes the biotinylation of the four biotin-dependent carboxylases in human cells. Patients with HCS deficiency lack activity of all four carboxylases, indicating that a single HCS is targeted to the mitochondria a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bbe3089676851c7ecee35bd7251ca3e
https://europepmc.org/articles/PMC41997/

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání