Molecular Genetics and Metabolism

1

Elevated neonatal 3-OH isovalerylcarnitine due to breast milk sources in maternal 3-MCC deficiency

Jeff Eichhorst, Jane Alcorn, Joyce LePage, Michele Etter, Nick A. Antonishyn, Braden Fitterer, Duane A. Birch, Kristin L. Agopsowicz, L. Ruthnum, Cheryl R. Greenberg, Denis C. Lehotay

Journal:

Year:

2010

Language:

english

File:

PDF, 152 KB

english, 2010

2

Disrupted recycling of the low density lipoprotein receptor by PCSK9 is not mediated by residues of the cytoplasmic domain

Thea Bismo Strøm, Øystein L. Holla, Kristian Tveten, Jamie Cameron, Knut Erik Berge, Trond P. Leren

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 705 KB

english, 2010

3

Pyruvate carboxylase deficiency: Mechanisms, mimics and anaplerosis

Isaac Marin-Valencia, Charles R. Roe, Juan M. Pascual

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 315 KB

english, 2010

4

Medium-chain triglycerides impair lipid metabolism and induce hepatic steatosis in very long-chain acyl-CoA dehydrogenase (VLCAD)-deficient mice

Sara Tucci, Sonja Primassin, Frank Ter Veld, Ute Spiekerkoetter

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 660 KB

english, 2010

5

Effect of antiepileptic drugs and reactive oxygen species on folate receptor 1 (FOLR1)-dependent 5-methyltetrahydrofolate transport

Thomas Opladen, Nenad Blau, Vincent Th. Ramaekers

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 568 KB

english, 2010

6

Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening

Roman Yusupov, David N. Finegold, Edwin W. Naylor, Inderneel Sahai, Susan Waisbren, Harvey L. Levy

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 370 KB

english, 2010

7

Deletion at chromosomal band Xp22.12–Xp22.13 involving PDHA1 in a patient with congenital lactic acidosis

Benjamin H. Singer, Ramaswamy K. Iyer, Douglas S. Kerr, Ayesha Ahmad

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 503 KB

english, 2010

8

Mitogen-activated protein kinase phosphatase-1 deficiency decreases atherosclerosis in apolipoprotein E null mice by reducing monocyte chemoattractant protein-1 levels

Satoshi Imaizumi, Victor Grijalva, Saul Priceman, Lily Wu, Feng Su, Robin Farias-Eisner, Susan Hama, Mohamad Navab, Alan M. Fogelman, Srinivasa T. Reddy

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 745 KB

english, 2010

9

Influence of thymidylate synthase gene polymorphisms on total plasma homocysteine concentrations

Vikki Ho, Thomas E. Massey, Will D. King

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 241 KB

english, 2010

10

Molecular genetics of long QT syndrome

Nilesh J. Bokil, John M. Baisden, Dorothy J. Radford, Kim M. Summers

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 449 KB

english, 2010

11

Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC–MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis

Sabrina Forni, Xiaowei Fu, Susan E. Palmer, Lawrence Sweetman

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 296 KB

english, 2010

12

Novel transcriptional regulatory element in the phenylalanine hydroxylase gene intron 8

Maja Stojiljkovic, Branka Zukic, Natasa Tosic, Teodora Karan-Djurasevic, Vesna Spasovski, Gordana Nikcevic, Sonja Pavlovic

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 252 KB

english, 2010

13

Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2

Lisa M. Vincent, Fred Gilbert, Jennifer I. DiPace, Carla Ciccone, Thomas C. Markello, Andrew Jeong, Heidi Dorward, Wendy Westbroek, William A. Gahl, James B. Bussel, Marjan Huizing

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 500 KB

english, 2010

14

Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease

Yin-Hsiu Chien, Ni-Chung Lee, Fu-Jen Tsai, May-Chin Chao, Wuh-Liang Hwu

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 211 KB

english, 2010

15

Cover 2 / Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 33 KB

english, 2010

16

An ethnic-specific polymorphism in the catalytic subunit of glutamate-cysteine ligase impairs the production of glutathione intermediates in vitro

Truc M. Le, Alecia S. Willis, Frederick E. Barr, Gary R. Cunningham, Jeffrey A. Canter, Sarah E. Owens, Rachel K. Apple, George Ayodo, David Reich, Marshall L. Summar

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 489 KB

english, 2010

Volume 101; Issue 1

Elevated neonatal 3-OH isovalerylcarnitine due to breast milk sources in maternal 3-MCC deficiency

Disrupted recycling of the low density lipoprotein receptor by PCSK9 is not mediated by residues of the cytoplasmic domain

Pyruvate carboxylase deficiency: Mechanisms, mimics and anaplerosis

Medium-chain triglycerides impair lipid metabolism and induce hepatic steatosis in very long-chain acyl-CoA dehydrogenase (VLCAD)-deficient mice

Effect of antiepileptic drugs and reactive oxygen species on folate receptor 1 (FOLR1)-dependent 5-methyltetrahydrofolate transport

Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening

Deletion at chromosomal band Xp22.12–Xp22.13 involving PDHA1 in a patient with congenital lactic acidosis

Mitogen-activated protein kinase phosphatase-1 deficiency decreases atherosclerosis in apolipoprotein E null mice by reducing monocyte chemoattractant protein-1 levels

Influence of thymidylate synthase gene polymorphisms on total plasma homocysteine concentrations

Molecular genetics of long QT syndrome

Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC–MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis

Novel transcriptional regulatory element in the phenylalanine hydroxylase gene intron 8

Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2

Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease

Cover 2 / Ed. Board

Table of Contents

An ethnic-specific polymorphism in the catalytic subunit of glutamate-cysteine ligase impairs the production of glutathione intermediates in vitro