Molecular Genetics and Metabolism

1

Energizing miRNA research: A review of the role of miRNAs in lipid metabolism, with a prediction that miR-103/107 regulates human metabolic pathways

Bernard R. Wilfred, Wang-Xia Wang, Peter T. Nelson

Journal:

Year:

2007

Language:

english

File:

PDF, 743 KB

english, 2007

2

Arrhythmia induced by spatiotemporal overexpression of calreticulin in the heart

Kiyoko Hattori, Kimitoshi Nakamura, Yuichiro Hisatomi, Shirou Matsumoto, Misao Suzuki, Richard P. Harvey, Hiroki Kurihara, Shinzaburo Hattori, Tetsuro Yamamoto, Marek Michalak, Fumio Endo

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 2.76 MB

english, 2007

3

Murine model (Galnstm(C76S)slu) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins

Shunji Tomatsu, Carole Vogler, Adriana M. Montaño, Monica Gutierrez, Hirotaka Oikawa, Vu Chi Dung, Tadao Orii, Akihiko Noguchi, William S. Sly

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 647 KB

english, 2007

4

Bone marrow transplantation for feline mucopolysaccharidosis I

N. Matthew Ellinwood, Marie-Anne Colle, Margaret A. Weil, Margret L. Casal, Charles H. Vite, Staci Wiemelt, Christopher W. Hasson, Thomas M. O’Malley, Xingxuan He, Ulana Prociuk, Lucie Verot, John R.

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 2.27 MB

english, 2007

5

L-FABP T94A is associated with fasting triglycerides and LDL-cholesterol in women

Eva Fisher, Cornelia Weikert, Maja Klapper, Inka Lindner, Matthias Möhlig, Joachim Spranger, Heiner Boeing, Jürgen Schrezenmeir, Frank Döring

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 159 KB

english, 2007

6

Successful treatment of a guanidinoacetate methyltransferase deficient patient: Findings with relevance to treatment strategy and pathophysiology

Krijn T. Verbruggen, Paul E. Sijens, Andreas Schulze, Roelineke J. Lunsing, Cornelis Jakobs, Gajja S. Salomons, Francjan J. van Spronsen

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 113 KB

english, 2007

7

Brain phenylalanine measurement in patients with phenylketonuria: A serious diagnostic method or just reading tea leaves?

Miroslaw Bik-Multanowski, Jacek J. Pietrzyk

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 132 KB

english, 2007

8

Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles

Steven F. Dobrowolski, Clinton Ellingson, Thomas Coyne, Jesse Grey, Ranae Martin, Edwin W. Naylor, Richard Koch, Harvey L. Levy

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 1.41 MB

english, 2007

9

Increase in congenital hypothyroidism in New York State and in the United States

Katharine B. Harris, Kenneth A. Pass

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 465 KB

english, 2007

10

A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease

Kerry Anne McEachern, John Fung, Svetlana Komarnitsky, Craig S. Siegel, Wei-Lien Chuang, Elizabeth Hutto, James A. Shayman, Gregory A. Grabowski, Johannes M.F.G. Aerts, Seng H. Cheng, Diane P. Copelan

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 1.54 MB

english, 2007

11

The origin of halitosis in cystinotic patients due to cysteamine treatment

Martine Besouw, Henk Blom, Albert Tangerman, Adriana de Graaf-Hess, Elena Levtchenko

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 214 KB

english, 2007

12

Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency

Hyung-Doo Park, You-Lim Bang, Kyoung Un Park, Jin Q Kim, Byung-Hoon Jeong, Yong-Sun Kim, Young-Han Song, Junghan Song

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 459 KB

english, 2007

13

Corrigendum to “When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients” [Mol. Genet. Metab. 88 (2006) 359–363]

Ruth Bargal, Marsha Zeigler, Bassam Abu-Libdeh, Vivi Zuri, Hanna Mandel, Ziva Ben Neriah, Fiona Stewart, Nursel Elcioglu, Tareq Hindi, Martine Le Merrer, Gideon Bach, Annick Raas-Rothschild

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 77 KB

english, 2007

14

Cover 2 / Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 671 KB

english, 2007

15

Volume 91; Issue 3

Energizing miRNA research: A review of the role of miRNAs in lipid metabolism, with a prediction that miR-103/107 regulates human metabolic pathways

Arrhythmia induced by spatiotemporal overexpression of calreticulin in the heart

Murine model (Galnstm(C76S)slu) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins

Bone marrow transplantation for feline mucopolysaccharidosis I

L-FABP T94A is associated with fasting triglycerides and LDL-cholesterol in women

Successful treatment of a guanidinoacetate methyltransferase deficient patient: Findings with relevance to treatment strategy and pathophysiology

Brain phenylalanine measurement in patients with phenylketonuria: A serious diagnostic method or just reading tea leaves?

Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles

Increase in congenital hypothyroidism in New York State and in the United States

A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease

The origin of halitosis in cystinotic patients due to cysteamine treatment

Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency

Corrigendum to “When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients” [Mol. Genet. Metab. 88 (2006) 359–363]

Cover 2 / Ed. Board

Table of Contents