Molecular Genetics and Metabolism

1

Tumor necrosis factor-alpha deficiency retards early fatty-streak lesion by influencing the expression of inflammatory factors in apoE-null mice

Ning Xiao, Miao Yin, Liang Zhang, Xuebin Qu, Hui Du, Xiaoming Sun, Liufeng Mao, Guocheng Ren, Cong Zhang, Yue Geng, Liguo An, Jie Pan

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 459 KB

english, 2009

2

Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry

Clare E. Beesley, Elisabeth P. Young, Niamh Finnegan, Marie Jackson, Kevin Mills, Ashok Vellodi, Maureen Cleary, Bryan G. Winchester

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 383 KB

english, 2009

3

Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects

Hélène Pagniez-Mammeri, Anne Lombes, Michèle Brivet, Hélène Ogier-de Baulny, Pierre Landrieu, Alain Legrand, Abdelhamid Slama

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 206 KB

english, 2009

4

A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease

Prasanth Potluri, Antonio Davila, Eduardo Ruiz-Pesini, Dan Mishmar, Sean O’Hearn, Saege Hancock, Mariella Simon, Immo E. Scheffler, Douglas C. Wallace, Vincent Procaccio

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 505 KB

english, 2009

5

Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts

Aya Higashidani, Lars Bode, Atsushi Nishikawa, Hudson H. Freeze

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 642 KB

english, 2009

6

N- and C-terminal domains in human holocarboxylase synthetase participate in substrate recognition

Yousef I. Hassan, Hideaki Moriyama, Lars J. Olsen, Xin Bi, Janos Zempleni

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 397 KB

english, 2009

7

GS2 as a retinol transacylase and as a catalytic dyad independent regulator of retinylester accretion

Jay G. Gao, Alice Shih, Robert Gruber, Matthius Schmuth, Marcia Simon

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 487 KB

english, 2009

8

Diltiazem, a L-type Ca2+ channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells

Brigitte Rigat, Don Mahuran

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 1.75 MB

english, 2009

9

High frequency of large genomic deletions in the PCCA gene causing propionic acidemia

Lourdes R. Desviat, Rocío Sanchez-Alcudia, Belén Pérez, Celia Pérez-Cerdá, Rosa Navarrete, Raymon Vijzelaar, Magdalena Ugarte

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 537 KB

english, 2009

10

Epigenetic modification of the gene for the vitamin B12 chaperone MMACHC can result in increased tumorigenicity and methionine dependence

Amanda D. Loewy, Kirsten M. Niles, Natascia Anastasio, David Watkins, Josée Lavoie, Jordan P. Lerner-Ellis, Tomi Pastinen, Jacquetta M. Trasler, David S. Rosenblatt

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 652 KB

english, 2009

11

Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches

Shoichi Takikita, Rachel Myerowitz, Kristien Zaal, Nina Raben, Paul H. Plotz

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 991 KB

english, 2009

12

Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses

Øystein L. Holla, Sigve Nakken, Morten Mattingsdal, Trine Ranheim, Knut Erik Berge, Joep C. Defesche, Trond P. Leren

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 596 KB

english, 2009

13

A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1

P.S. Kishnani, M. DiRocco, P. Kaplan, A. Mehta, G.M. Pastores, S.E. Smith, A.C. Puga, R.M. Lemay, N.J. Weinreb

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 241 KB

english, 2009

14

Lessons learned from the gene therapy trial for ornithine transcarbamylase deficiency

James M. Wilson

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 169 KB

english, 2009

15

Molecular interaction of imino sugars with human α-galactosidase: Insight into the mechanism of complex formation and pharmacological chaperone action in Fabry disease

Kanako Sugawara, Youichi Tajima, Ikuo Kawashima, Takahiro Tsukimura, Seiji Saito, Kazuki Ohno, Kunihiko Iwamoto, Toshihide Kobayashi, Kohji Itoh, Hitoshi Sakuraba

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 525 KB

english, 2009

16

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations

Cheryl R. Greenberg, Louise A. Dilling, G. Robert Thompson, Lorne E. Seargeant, James C. Haworth, Susan Phillips, Alicia Chan, Hilary D. Vallance, Paula J. Waters, Graham Sinclair, Yolanda Lillquist,

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 212 KB

english, 2009

17

Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis

Marieke Hoeksma, Dirk-Jan Reijngoud, Jan Pruim, Harold W. de Valk, Anne M.J. Paans, Francjan J. van Spronsen

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 324 KB

english, 2009

18

Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry

Saadet Mercimek-Mahmutoglu, Adolf Muehl, Gajja S. Salomons, Birgit Neophytou, Dorothea Moeslinger, Eduard Struys, Olaf A. Bodamer, Cornelis Jakobs, Sylvia Stockler-Ipsiroglu

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 195 KB

english, 2009

19

Optimizing the use of sapropterin (BH4) in the management of phenylketonuria

Nenad Blau, Amaya Bélanger-Quintana, Mübeccel Demirkol, François Feillet, Marcello Giovannini, Anita MacDonald, Friedrich K. Trefz, Francjan J. van Spronsen

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 343 KB

english, 2009

20

Cover 2 / Ed. Board

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 35 KB

english, 2009

21

Volume 96; Issue 4

Tumor necrosis factor-alpha deficiency retards early fatty-streak lesion by influencing the expression of inflammatory factors in apoE-null mice

Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry

Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects

A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease

Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts

N- and C-terminal domains in human holocarboxylase synthetase participate in substrate recognition

GS2 as a retinol transacylase and as a catalytic dyad independent regulator of retinylester accretion

Diltiazem, a L-type Ca2+ channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells

High frequency of large genomic deletions in the PCCA gene causing propionic acidemia

Epigenetic modification of the gene for the vitamin B12 chaperone MMACHC can result in increased tumorigenicity and methionine dependence

Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches

Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses

A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1

Lessons learned from the gene therapy trial for ornithine transcarbamylase deficiency

Molecular interaction of imino sugars with human α-galactosidase: Insight into the mechanism of complex formation and pharmacological chaperone action in Fabry disease

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations

Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis

Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry

Optimizing the use of sapropterin (BH4) in the management of phenylketonuria

Cover 2 / Ed. Board

Table of Contents