K Petrukhin

Summary

Affiliation: Merck Research Laboratories
Country: USA

Publications

  1. ncbi Identification of the gene responsible for Best macular dystrophy
    K Petrukhin
    Department of Human Genetics, Merck Research Laboratories, West Point, Pennsylvania 19486, USA
    Nat Genet 19:241-7. 1998
  2. ncbi Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions
    K Petrukhin
    Department of Genetics and Development, College of Physicians and Surgeons, Columbia University, New York, NY
    Hum Mol Genet 3:1647-56. 1994
  3. ncbi Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene
    P S Bernstein
    Department of Ophthalmology and Visual Sciences, Moran Eye Center, Columbia University, 630 West 168th Street, New York, NY 10032, USA
    Invest Ophthalmol Vis Sci 42:3331-6. 2001
  4. ncbi A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy
    K Zhang
    Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Nat Genet 27:89-93. 2001
  5. ncbi Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium
    A D Marmorstein
    Department of Ophthalmic Research, Cole Eye Institute, and Department of Cell Biology, Lerner Research Institute, The Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland OH 44195, USA
    Proc Natl Acad Sci U S A 97:12758-63. 2000
  6. ncbi Retina-specific nuclear receptor: A potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Müller glial cells
    F Chen
    Department of Human Genetics, Merck Research Laboratories, West Point, PA 19486, USA
    Proc Natl Acad Sci U S A 96:15149-54. 1999
  7. ncbi Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies
    R Allikmets
    Intramural Research Support Program, SAIC Frederick, National Cancer Institute Frederick Cancer Research and Development Center, MD 21702 1201, USA
    Hum Genet 104:449-53. 1999
  8. ncbi The mutation spectrum of the bestrophin protein--functional implications
    B Bakall
    Department of Genetics and Pathology, University Hospital, Uppsala, Sweden
    Hum Genet 104:383-9. 1999
  9. ncbi Identification of a novel transcription regulator from Proteus mirabilis, PMTR, revealed a possible role of YJAI protein in balancing zinc in Escherichia coli
    M Noll
    Department of Biochemistry and Molecular Biology, Oregon Health Sciences University, Portland, Oregon 97201, USA
    J Biol Chem 273:21393-401. 1998
  10. ncbi Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses
    A B Shah
    Department of Genetics and Development, Columbia University, New York, NY 10032, USA
    Am J Hum Genet 61:317-28. 1997

Collaborators

Detail Information

Publications13

  1. ncbi Identification of the gene responsible for Best macular dystrophy
    K Petrukhin
    Department of Human Genetics, Merck Research Laboratories, West Point, Pennsylvania 19486, USA
    Nat Genet 19:241-7. 1998
    ..The 3' UTR of the candidate gene contains a region of antisense complementarity to the 3' UTR of the ferritin heavy-chain gene (FTH1), indicating the possibility of antisense interaction between VMD2 and FTH1 transcripts...
  2. ncbi Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions
    K Petrukhin
    Department of Genetics and Development, College of Physicians and Surgeons, Columbia University, New York, NY
    Hum Mol Genet 3:1647-56. 1994
    ..It appears that the mechanism of alternative splicing serves to regulate the amount of functional WD protein produced in brain, kidney, placenta, and possibly in liver...
  3. ncbi Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene
    P S Bernstein
    Department of Ophthalmology and Visual Sciences, Moran Eye Center, Columbia University, 630 West 168th Street, New York, NY 10032, USA
    Invest Ophthalmol Vis Sci 42:3331-6. 2001
    ..In the current study, the potential involvement was investigated of an ELOVL4 gene variation in adSTGD-like and other macular dystrophy phenotypes segregating in a large unrelated pedigree from Utah (K4175)...
  4. ncbi A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy
    K Zhang
    Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Nat Genet 27:89-93. 2001
    ..Our results are therefore the first to implicate the biosynthesis of fatty acids in the pathogenesis of inherited macular degeneration...
  5. ncbi Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium
    A D Marmorstein
    Department of Ophthalmic Research, Cole Eye Institute, and Department of Cell Biology, Lerner Research Institute, The Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland OH 44195, USA
    Proc Natl Acad Sci U S A 97:12758-63. 2000
    ..The basolateral plasma membrane localization of bestrophin suggests the possibility that bestrophin plays a role in generating the altered electrooculogram of individuals with Best disease...
  6. ncbi Retina-specific nuclear receptor: A potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Müller glial cells
    F Chen
    Department of Human Genetics, Merck Research Laboratories, West Point, PA 19486, USA
    Proc Natl Acad Sci U S A 96:15149-54. 1999
    ....
  7. ncbi Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies
    R Allikmets
    Intramural Research Support Program, SAIC Frederick, National Cancer Institute Frederick Cancer Research and Development Center, MD 21702 1201, USA
    Hum Genet 104:449-53. 1999
    ....
  8. ncbi The mutation spectrum of the bestrophin protein--functional implications
    B Bakall
    Department of Genetics and Pathology, University Hospital, Uppsala, Sweden
    Hum Genet 104:383-9. 1999
    ..Computer simulations of the structural elements in the bestrophin protein show that this protein is probably membrane bound, with four putative transmembrane regions...
  9. ncbi Identification of a novel transcription regulator from Proteus mirabilis, PMTR, revealed a possible role of YJAI protein in balancing zinc in Escherichia coli
    M Noll
    Department of Biochemistry and Molecular Biology, Oregon Health Sciences University, Portland, Oregon 97201, USA
    J Biol Chem 273:21393-401. 1998
    ..We propose that YJAI is an important component of the zinc-balancing mechanism in E. coli, the up-regulation of which with PMTR results in an increased tolerance to zinc...
  10. ncbi Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses
    A B Shah
    Department of Genetics and Development, Columbia University, New York, NY 10032, USA
    Am J Hum Genet 61:317-28. 1997
    ..Finally, lymphoblast cell lines from individuals homozygous for His1069Glu and 4 other mutations all demonstrated significantly decreased copper-stimulated ATPase activity...
  11. ncbi Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments
    X L Yang
    Department of Biochemistry, Akita University School of Medicine, 1 1 1 Hondo, Akita, Akita 010, Japan
    Biochem J 326:897-902. 1997
    ..These results suggest that the alternative WD proteins act as key regulators of copper metabolism, perhaps by performing distinct roles in the intracellular transport and export of copper...
  12. ncbi Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22
    T Klockars
    Department of Human Molecular Genetics, National Public Health Institute, Helsinki, 00300, Finland
    Genomics 35:71-8. 1996
    ..Here we report a complete physical map of about 350 kb covering the critical chromosomal region of CLN5, which will facilitate the final isolation of the CLN5 gene...
  13. ncbi Evaluation of the ELOVL4 gene in patients with age-related macular degeneration
    R Ayyagari
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, USA
    Ophthalmic Genet 22:233-9. 2001
    ..However, for the detection of modest effects of multiple alleles in a complex disease, the analysis of larger cohorts of patients may be required...