Laboratory Genetics in Minnesota

2005 Publications of the Biochemical Genetics Laboratory

In 2005, members of the BGL co-authored 30 peer-reviewed publications. These references illustrate the variety, clinical breadth, and continued growth of the areas we have been investigating.

Original Articles

Bergen HR 3rd, Muddiman DC, O'Brien JF, Hoyer JD. Normalization of relative peptide ratios derived from in-gel digests: applications to protein variant analysis at the peptide level. Rapid Commun Mass Spectrom. 2005;19(19):2871-7.

Brilakis ES, McConnell JP, Lennon RJ, Elesber AA, Meyer JG, Berger PB. Association of lipoprotein-associated phospholipase A2 levels with coronary artery disease risk factors, angiographic coronary artery disease, and major adverse events at follow-up.

Eur Heart J. 2005 Jan;26(2):137-44.

Bruno A, McConnell JP, Cohen SN, Tietjen GE, Richardson D, Gorelick PB, Bang NU. Plasma thrombosis markers following cerebral infarction in African Americans. Thromb Res. 2005;115(1-2):73-7.

Clarke-Moloney M, O'Brien JF, Grace PA, Burke PE. Health-related quality of life during four-layer compression bandaging for venous ulcer disease: a randomised controlled trial. Ir J Med Sci. 2005 Apr-Jun;174(2):21-5.

Conlon TJ, Walter G, Owen R, Cossette T, Erger K, Gutierrez G, Goetzman E, Matern D, Vockley J, Flotte TR. Systemic Correction of a Fatty Acid Oxidation Defect by Intramuscular Injection of a Recombinant Adeno-Associated Virus Vector. Hum Gene Ther. 2005 Dec 14.

Cooperman SS, Meyron-Holtz EG, Olivierre-Wilson H, Ghosh MC, McConnell JP, Rouault TA. Microcytic anemia, erythropoietic protoporphyria, and neurodegeneration in mice with targeted deletion of iron-regulatory protein 2. Blood. 2005 Aug; 106(3):1084-91.

Ensenauer R, Tuchman M, El-Youssef M, Kotagal S, Ishitani MB, Matern D, Babovic-Vuksanovic D. Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life.; Mol Genet Metab. 2005 Apr;84(4):363-6.

Ensenauer R, Winters JL, Parton PA, Kronn DF, Kim JW, Matern D, Rinaldo P, Hahn SH. Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification. Genet Med. 2005 May-Jun;7(5):339-43.

Exil VJ, Summar M, Boles MA, Atkinson J, Johns JA, Matern D, Strauss AW, Canter CE. Metabolic basis of pediatric heart disease. Prog Pediatr Cardiol 2005; 20: 143-159

Ibdah JA, Perlegas P, Zhao Y, Angdisen J, Borgerink H, Shadoan MK, Wagner JD, Matern D, Rinaldo P, Cline JM. Mice heterozygous for a defect in mitochondrial trifunctional protein develop hepatic steatosis and insulin resistance. Gastroenterology. 2005 May;128(5):1381-90.

Kim JW, Hu JC, Lee JI, Moon SK, Kim YJ, Jang KT, Lee SH, Kim CC, Hahn SH, Simmer JP. Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet. 2005 Feb;116(3):186-91.

Kramer KA, Oglesbee D, Hartman SJ, Huey J, Anderson B, Magera MJ, Matern D, Rinaldo P, Robinson BH, Cameron JM, Hahn SH. Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts. Clin Chem. 2005 Nov;51(11):2110-6.

Kullo IJ, de Andrade M, Boerwinkle E, McConnell JP, Kardia SL, Turner ST. Pleiotropic genetic effects contribute to the correlation between HDL cholesterol, triglycerides, and LDL particle size in hypertensive sibships. Am J Hypertens. 2005 Jan;18(1):99-103.

Liu C, Wang S, Deb A, Nath KA, Katusic ZS, McConnell JP, Caplice NM. Proapoptotic, antimigratory, antiproliferative, and antiangiogenic effects of commercial C-reactive protein on various human endothelial cell types in vitro: implications of contaminating presence of sodium azide in commercial preparation. Circ Res. 2005 Jul 22;97(2):135-43. Epub 2005 Jun 23.

Morel CF, Watkins D, Scott P, Rinaldo P, Rosenblatt DS. Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport. Mol Genet Metab. 2005 Sep-Oct;86(1-2):160-71.

Nyberg SL, Hardin J, Amiot B, Argikar UA, Remmel RP, Rinaldo P. Rapid, large-scale formation of porcine hepatocyte spheroids in a novel spheroid reservoir bioartificial liver. Liver Transpl. 2005 Aug;11(8):901-10.

Perri RE, Hahn SH, Ferber MJ, Kamath PS. Wilson Disease--keeping the bar for diagnosis raised. Hepatology. 2005 Oct;42(4):974.

Rajamannan NM, Subramaniam M, Stock SR, Stone NJ, Springett M, Ignatiev KI, McConnell JP, Singh RJ, Bonow RO, Spelsberg TC. Atorvastatin inhibits calcification and enhances nitric oxide synthase production in the hypercholesterolaemic aortic valve. Heart. 2005 Jun;91(6):806-10.

Schowalter DB, Matern D, Vockley J. In vitro correction of medium chain acyl CoA dehydrogenase deficiency with a recombinant adenoviral vector. Mol Genet Metab. 2005 Jun;85(2):88-95.

Schuler AM, Gower BA, Matern D, Rinaldo P, Vockley J, Wood PA. Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation. Mol Genet Metab. 2005 May;85(1):7-11.

Shekhawat PS, Matern D, Strauss AW. Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management. Pediatr Res. 2005 May;57(5 Pt 2):78R-86R.

Shneider BL, Rinaldo P, Emre S, Bucuvalas J, Squires R, Narkewicz M, Gondolesi G, Magid M, Morotti R, Hynan LS. Abnormal concentrations of esterified carnitine in bile: a feature of pediatric acute liver failure with poor prognosis. Hepatology. 2005 Apr;41(4):717-21.

Sturiale L, Barone R, Fiumara A, Perez M, Zaffanello M, Sorge G, Pavone L, Tortorelli S, O'Brien JF, Jaeken J, Garozzo D. Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. Glycobiology. 2005 Dec;15(12):1268-76.

Svatikova A, Wolk R, Lerman LO, Juncos LA, Greene EL, McConnell JP, Somers VK. Oxidative stress in obstructive sleep apnoea. Eur Heart J. 2005 Nov;26(22):2435-9. Epub 2005 Aug 16.

Tiranti V, Briem E, Lamantea E, Mineri R, Papaleo E, Degioia L, Forlani F, Rinaldo P, Dickson P, Abu-Libdeh B, Cindro-Heberle L, Owaidha M, Jack RM, Christensen E, Burlina A, Zeviani M. ETHE1 mutations are specific to Ethylmalonic Encephalopathy.

J Med Genet. 2005 Sep 23.

Tolwani RJ, Hamm DA, Tian L, Sharer JD, Vockley J, Rinaldo P, Matern D, Schoeb TR, Wood PA. Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Gene-Targeted Mice. PLoS Genet. 2005 Aug 19;1(2):e23

Tortorelli S, Hahn SH, Cowan TM, Brewster TG, Rinaldo P, Matern D. The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I. Mol Genet Metab. 2005 Feb;84(2):137-43.

Tsimikas S, Brilakis ES, Miller ER, McConnell JP, Lennon RJ, Kornman KS, Witztum JL, Berger PB. Oxidized phospholipids, Lp(a) lipoprotein, and coronary artery disease. N Engl J Med. 2005 Jul 7;353(1):46-57.

Yoon HR, Lee KR, Kang S, Lee DH, Yoo HW, Min WK, Cho DH, Shin SM, Kim J, Song J, Yoon HJ, Seo S, Hahn SH. Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report. Clin Chim Acta. 2005 Apr;354(1-2):167-80.

Reviews and Chapters

Rinaldo P, Hahn SH, Matern D. Inborn errors of amino acid, organic acid, and fatty acid metabolism. In: Burtis CA, Ashwood ER, Tietz NW, eds. Tietz Textbook of Clinical Chemistry and Molecular Diagnostics, 4th ed., W.B. Saunders 2005: 2207-4.

Electronic Publications

Matern D, Rinaldo P (updated February 2005) Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle. 1997-2004. Available at http://www.genetests.org