abstract：:Caenorhabditis elegans affords a model of primary mitochondrial dysfunction that provides insight into cellular adaptations which accompany mutations in nuclear genes that encode mitochondrial proteins. To this end, we characterized genome-wide expression profiles of C. elegans strains with mutations in nuclear-encode...

journal_title：Molecular genetics and metabolism

authors： Falk MJ,Zhang Z,Rosenjack JR,Nissim I,Daikhin E,Nissim I,Sedensky MM,Yudkoff M,Morgan PG

更新日期：2008-04-01 00:00:00

abstract：:We describe the treatment, the clinical, and biochemical findings and the outcome of 26 patients with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency and 10 patients with dihydropteridine reductase (DHPR) deficiency. These are the two most common forms of the autosomal-recessively inherited tetrahydrobiopterin ...

journal_title：Molecular genetics and metabolism

authors： Jäggi L,Zurflüh MR,Schuler A,Ponzone A,Porta F,Fiori L,Giovannini M,Santer R,Hoffmann GF,Ibel H,Wendel U,Ballhausen D,Baumgartner MR,Blau N

更新日期：2008-03-01 00:00:00

abstract：:Recent studies indicate altered cholesterol homeostasis in Huntington's disease (HD) after it was found that cultured human and mice cells expressing mutant huntingtin show reduced mRNA of cholesterol biosynthetic enzymes. Plasma total cholesterol (TC) levels have been connected to degenerative disorders, but data for...

journal_title：Molecular genetics and metabolism

authors： Markianos M,Panas M,Kalfakis N,Vassilopoulos D

更新日期：2008-03-01 00:00:00

abstract：:Mucolipidosis type II (ML II) is a fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features. ML II results from mutations in alpha and beta subunits, encoded by the GlcNAc-1-phosphotransferase gene (GNPTAB). Most of the 40 different GNPTAB mutations reported so fa...

journal_title：Molecular genetics and metabolism

authors： Tappino B,Regis S,Corsolini F,Filocamo M

更新日期：2008-02-01 00:00:00

abstract：:We report 10 children (7 male, 3 female), 3 homozygous for c.319C>T mutation and 7 heterozygous for c.319C>T on one allele and c.625G>A variant on the other in the short-chain acyl-CoA dehydrogenase (SCAD) gene (ACADS). All were of Ashkenazi Jewish origin in which group we found a c.319C>T heterozygote frequency of 1:...

journal_title：Molecular genetics and metabolism

authors： Tein I,Elpeleg O,Ben-Zeev B,Korman SH,Lossos A,Lev D,Lerman-Sagie T,Leshinsky-Silver E,Vockley J,Berry GT,Lamhonwah AM,Matern D,Roe CR,Gregersen N

更新日期：2008-02-01 00:00:00

abstract：:BH(4) administration results in the reduction of blood phenylalanine level in patients with tetrahydrobiopterin (BH(4))-responsive phenylalanine hydroxylase (PAH) deficiency. The mechanism underlying BH(4) response remains unknown. Here, we studied the effects of BH(4) and phenylalanine on in vivo PAH activity of norm...

journal_title：Molecular genetics and metabolism

authors： Okano Y,Takatori K,Kudo S,Sakaguchi T,Asada M,Kajiwara M,Yamano T

更新日期：2007-12-01 00:00:00

abstract：:3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency is a rare autosomal recessive genetic disorder that affects ketogenesis and l-leucine catabolism, which generally appears during the first year of life. Patients with HL deficiency have a reduced capacity to synthesize ketone bodies. The disease is caused by lethal ...

journal_title：Molecular genetics and metabolism

authors： Pié J,López-Viñas E,Puisac B,Menao S,Pié A,Casale C,Ramos FJ,Hegardt FG,Gómez-Puertas P,Casals N

更新日期：2007-11-01 00:00:00

abstract：:Mucopolysaccharidosis type IIIA (MPS IIIA) is a specific lysosomal storage disorder caused by an enzyme deficiency in sulphamidase, which is required for the degradation of heparan sulphate glycosaminoglycan (gag). This deficiency results in widespread gag storage and leads to severe CNS degeneration and mild somatic ...

journal_title：Molecular genetics and metabolism

authors： Roberts AL,Rees MH,Klebe S,Fletcher JM,Byers S

更新日期：2007-09-01 00:00:00

abstract：:Quantitative fluorescent multiplex PCR (QFM-PCR) was established in order to make possible the rapid and efficient mutational analysis of the pancreatic secretory trypsin inhibitor (SPINK1) gene. Using QFM-PCR, a novel heterozygous deletion encompassing the entire SPINK1 gene was identified in one of nine newly recrui...

journal_title：Molecular genetics and metabolism

authors： Masson E,Le Maréchal C,Levy P,Chuzhanova N,Ruszniewski P,Cooper DN,Chen JM,Férec C

更新日期：2007-09-01 00:00:00

abstract：:Gaucher disease type 1 (GD1) is an autosomal recessive lysosomal storage disorder, characterised by accumulation of glycosphingolipids in visceral organs. Although considered non-neuronopathic neurological involvement has been reported in single cases. The aim of our study was to investigate central and peripheral ner...

journal_title：Molecular genetics and metabolism

authors： Mercimek-Mahmutoglu S,Gruber S,Rolfs A,Stadlbauer A,Woeber C,Kurnik P,Voigtlaender T,Moser E,Stoeckler-Ipsiroglu S

更新日期：2007-08-01 00:00:00

abstract：:Degenerative joint disease (DJD) is one aspect of mucopolysaccharidosis VI (MPS VI) pathology that has proven resistant to systemic enzyme replacement therapy (ERT). In this study the effect of repeated intra-articular injections (IA INJ) of recombinant human acetylgalactosamine-4-sulfatase (rh4S) on DJD was examined....

journal_title：Molecular genetics and metabolism

authors： Auclair D,Hopwood JJ,Lemontt JF,Chen L,Byers S

更新日期：2007-08-01 00:00:00

abstract：:An approach to treating Gaucher disease is substrate inhibition therapy which seeks to abate the aberrant lysosomal accumulation of glucosylceramide. We have identified a novel inhibitor of glucosylceramide synthase (Genz-112638) and assessed its activity in a murine model of Gaucher disease (D409V/null). Biochemical ...

journal_title：Molecular genetics and metabolism

authors： McEachern KA,Fung J,Komarnitsky S,Siegel CS,Chuang WL,Hutto E,Shayman JA,Grabowski GA,Aerts JM,Cheng SH,Copeland DP,Marshall J

更新日期：2007-07-01 00:00:00

abstract：:The tissue specificity of mitochondrial diseases is poorly understood. Recently, tissue-specific quantitative differences of the components of the mitochondrial translation system have been found to correlate with disease presentation in fatal hepatopathy caused by mutations in mitochondrial translation factor EFG1. M...

journal_title：Molecular genetics and metabolism

authors： Bykhovskaya Y,Mengesha E,Fischel-Ghodsian N

更新日期：2007-06-01 00:00:00

abstract：:Abetalipoproteinemia (ABL) is a rare autosomal recessive metabolic disorder, characterized by the absence of plasma apolipoprotein B-containing lipoproteins and very low levels of plasma triglycerides and cholesterol. ABL is caused by mutations of the MTP gene. We investigated the genetic basis for ABL in a cohort of ...

journal_title：Molecular genetics and metabolism

authors： Benayoun L,Granot E,Rizel L,Allon-Shalev S,Behar DM,Ben-Yosef T

更新日期：2007-04-01 00:00:00

abstract：:The relatively new study of ribosomal proteins has allowed for greater understanding of protein synthesis; however the connection between ribosomal proteins' roles and that of disease pathophysiology has not yet been established. RPS19 is a ribosomal protein linked to Diamond-Blackfan anemia whose functions have begun...

journal_title：Molecular genetics and metabolism

authors： Morimoto K,Lin S,Sakamoto K

更新日期：2007-04-01 00:00:00

abstract：:The enzymatic defect in Pompe disease is insufficient lysosomal acid alpha-glucosidase (GAA) activity which leads to lysosomal glycogen accumulation. We recently introduced a simple and reliable method to measure GAA activity in dried blood spots using Acarbose, a highly selective alpha-glucosidase inhibitor, to elimi...

journal_title：Molecular genetics and metabolism

authors： Kallwass H,Carr C,Gerrein J,Titlow M,Pomponio R,Bali D,Dai J,Kishnani P,Skrinar A,Corzo D,Keutzer J

更新日期：2007-04-01 00:00:00

abstract：:X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene that encodes a peroxisomal membrane located ABC half-transporter named ALDP. Mutations in ALDP result in elevated levels of very long-chain fatty acids (VLCFA) and reduced VLCFA beta-oxidation in peroxisomes. The peroxisomal membrane harbor...

journal_title：Molecular genetics and metabolism

authors： Kemp S,Wanders RJ

更新日期：2007-03-01 00:00:00

abstract：OBJECTIVE:To evaluate the safety and explore the efficacy of idursulfase (recombinant human iduronate-2-sulfatase) treatment for mucopolysaccharidosis II (MPS II). STUDY DESIGN:Twelve patients were enrolled into a randomized, double-blind, placebo-controlled trial for 24 weeks followed by an open-label extension study...

journal_title：Molecular genetics and metabolism

authors： Muenzer J,Gucsavas-Calikoglu M,McCandless SE,Schuetz TJ,Kimura A

更新日期：2007-03-01 00:00:00

abstract：:Isovaleric acidemia (IVA), a rare recessive autosomal disorder, is caused by isovaleryl-CoA dehydrogenase (IVD) deficiency. IVA may present with symptoms during the acute stage of severe metabolic acidosis, ketosis, vomiting, and altered mental status. With the help of newborn screening (NBS) by tandem mass spectromet...

journal_title：Molecular genetics and metabolism

authors： Lin WD,Wang CH,Lee CC,Lai CC,Tsai Y,Tsai FJ

更新日期：2007-02-01 00:00:00

abstract：:We describe a novel mitochondrial ND2 mutation (T4681C) in a patient presenting with Leigh Syndrome. Biochemical analyses revealed a low isolated complex I activity in patient's fibroblasts, blood and skeletal muscle. Mutant transmitochondrial cybrid clones retained the specific complex I defect, demonstrating the mit...

journal_title：Molecular genetics and metabolism

authors： Ugalde C,Hinttala R,Timal S,Smeets R,Rodenburg RJ,Uusimaa J,van Heuvel LP,Nijtmans LG,Majamaa K,Smeitink JA

更新日期：2007-01-01 00:00:00

abstract：:Arginase deficiency is an urea cycle disorder that generally presents with mental retardation and spasticity, yet uncommonly with episodes of hyperammonemia. A female adolescent with arginase deficiency developed hyperammonemic episodes temporally related to her menstrual cycle, which ceased upon adequate treatment wi...

journal_title：Molecular genetics and metabolism

authors： Boles RG,Stone ML

更新日期：2006-12-01 00:00:00

abstract：:Carnitine-acylcarnitine translocase (CACT) deficiency is a rare disorder of fatty acid oxidation associated with high mortality. Two female newborns of different ethnic origin (the first Anglo-Celtic and the second Palestinian Arab) both died after sudden collapse on day 2 of life. Both had elevated bloodspot long-cha...

journal_title：Molecular genetics and metabolism

authors： Korman SH,Pitt JJ,Boneh A,Dweikat I,Zater M,Meiner V,Gutman A,Brivet M

更新日期：2006-12-01 00:00:00

abstract：:This report compares statistical models based on molecular and inferred haplotypes of the human paraoxonase-1 gene (PON1). In a study of 402 women comprising three race/ethnicities, 137 women had ambiguous inferred haplotypes. The inferred haplotypes (the one with highest posterior probability) for 20 of these women d...

journal_title：Molecular genetics and metabolism

authors： Wallenstein S,Chen J,Wetmur JG

更新日期：2006-11-01 00:00:00

abstract：:Hereditary renal hypouricemia (HRH) is an inborn error of renal membrane transport specific for uric acid, resulting in increased renal urate clearance associated with hypouricemia. Apparently in most HRH patients, the disorder is caused by loss of function mutations in the gene SLC22A12 coding for human urate transpo...

journal_title：Molecular genetics and metabolism

authors： Sperling O

更新日期：2006-09-01 00:00:00

abstract：:Fish-odor syndrome or trimethylaminuria, is a rare inborn error of metabolism inherited in an autosomal recessive fashion, involving the dysfunction of hepatic enzyme flavin-containing monooxygenase 3 (FMO3) that converts fishy-smelling trimethylamine (TMA) into odorless trimethylamine-N-oxide (TMAO). This confers, to...

journal_title：Molecular genetics and metabolism

authors： Teresa E,Lonardo F,Fiumara A,Lombardi C,Russo P,Zuppi C,Scarano G,Musumeci S,Gianfrancesco F

更新日期：2006-06-01 00:00:00

abstract：:The human forkhead box O1A (FOXO1A) gene on chromosome 13q14.1 is a key transcription factor in insulin signaling in liver and adipose tissue and plays a central role in the regulation of key pancreatic beta-cell genes including IPF1. We hypothesized that sequence variants of FOXO1A contribute to the observed defects ...

journal_title：Molecular genetics and metabolism

authors： Karim MA,Craig RL,Wang X,Hale TC,Elbein SC

更新日期：2006-06-01 00:00:00

abstract：:We have established a new method for the enzymatic diagnosis of glycogen storage disease type II (Pompe disease or acid maltase deficiency) using mixed leukocytes. The method employs glycogen and 4-methylumbelliferyl-alpha-D-glucopyranoside (4MU-alphaGlc) as substrates for measuring the lysosomal acid alpha-glucosidas...

journal_title：Molecular genetics and metabolism

authors： Okumiya T,Keulemans JL,Kroos MA,Van der Beek NM,Boer MA,Takeuchi H,Van Diggelen OP,Reuser AJ

更新日期：2006-05-01 00:00:00

abstract：:Cystic Fibrosis (CF) is an autosomal recessive disorder affecting 1/2000-4000 newborns in Caucasian populations. This lethal disease mainly affects respiratory and digestive organs as well as fertility in man. So far, the CF prevalence and mutational spectrum have showed specificity among populations and regions, maki...

journal_title：Molecular genetics and metabolism

authors： Ramírez AM,Ramos MD,Jiménez J,Ghio A,de Botelli MM,Rezzónico CA,Marqués I,Pereyro S,Casals T,de Kremer RD

更新日期：2006-04-01 00:00:00

abstract：:Classic phenylketonuria (PKU) is characterized by severe mental retardation in untreated individuals and mild neurocognitive abnormalities in some early treated adults. The exact biochemical mechanisms underlying this neurotoxicity remain undetermined. Several theories implicate abnormal cerebral energy utilization an...

journal_title：Molecular genetics and metabolism

authors： Wasserstein MP,Snyderman SE,Sansaricq C,Buchsbaum MS

更新日期：2006-03-01 00:00:00

abstract：:Phenylketonuria (PKU) is an autosomal recessive genetic disorder in which mutations in the phenylalanine-4-hydroxylase (PAH) gene result in an inactive enzyme (PAH, EC 1.14.16.1). The effect is an inability to metabolize phenylalanine (Phe), translating into elevated levels of Phe in the bloodstream (hyperphenylalanin...

journal_title：Molecular genetics and metabolism

authors： Sarkissian CN,Gámez A

更新日期：2005-12-01 00:00:00

abstract：:Pyruvate dehydrogenase complex (PDC) deficiency is one of the major recognized causes of congenital lactic acidosis. The most common form is due to PDHA 1 gene (Xp22.12) defects. Here, we report the case of a Polynesian girl presenting with delayed neurological development, cortical atrophy, and posterior corpus callo...

journal_title：Molecular genetics and metabolism

authors： Brivet M,Moutard ML,Zater M,Venet L,Chenel C,Mine M,Legrand A

更新日期：2005-12-01 00:00:00

abstract：:In humans, deficiency of galactose-1-phosphate uridyltransferase (GALT) can lead a metabolic disorder Classic Galactosemia. Although the biochemical abnormalities associated with this disease have been described in detail, few attempts have been made to characterize the pathogenic mechanisms of this disorder at the mo...

journal_title：Molecular genetics and metabolism

authors： Slepak T,Tang M,Addo F,Lai K

更新日期：2005-11-01 00:00:00

abstract：:The disorders of purine and pyrimidine metabolism are unusual in their variety of clinical presentations and in the mechanisms by which these presentations result from the fundamental mutations. In the most common of the hyperuricemic metabolic disorders, deficiency of hypoxanthine phosphoribosyl transferase, the fund...

journal_title：Molecular genetics and metabolism

authors： Nyhan WL

更新日期：2005-09-01 00:00:00

abstract：:D-2-hydroxyglutaric aciduria (D-2-HGA) is a very rare autosomal recessive metabolic disorder that has recently been associated with mutations in the D-2-hydroxyglutarate dehydrogenase gene. The biochemical phenotype of D-2-HGA is defined by the accumulation of abnormal amounts of D-2-hydroxyglutarate in cerebrospinal ...

journal_title：Molecular genetics and metabolism

authors： Misra VK,Struys EA,O'brien W,Salomons GS,Glover T,Jakobs C,Innis JW

更新日期：2005-09-01 00:00:00

abstract：:A tetraglucose oligomer, Glcalpha1-6Glcalpha1-4Glcalpha1-4Glc, designated Glc4, has been shown to be a putative biomarker for the diagnosis of Pompe disease. The purpose of this study was to assess whether Glc4 could be used to monitor the therapeutic response to recombinant human acid alpha glucosidase (rhGAA) enzyme...

journal_title：Molecular genetics and metabolism

authors： An Y,Young SP,Kishnani PS,Millington DS,Amalfitano A,Corz D,Chen YT

更新日期：2005-08-01 00:00:00

abstract：:Phytanic acid is a 3-methyl branched-chain fatty acid which originates from dietary sources. Since the 3-methyl group blocks regular beta-oxidation, it is broken down by peroxisomal alpha-oxidation. Adult Refsum disease patients accumulate phytanic acid as a result of an impairment in peroxisomal alpha-oxidation, caus...

journal_title：Molecular genetics and metabolism

authors： Komen JC,Duran M,Wanders RJ

更新日期：2005-07-01 00:00:00

abstract：:Three functional polymorphisms described in the promoter of receptor for advanced glycation end products (RAGE) gene were shown to have a marked effect on transcriptional activity. The few studies which analyzed the relationship between these three polymorphisms and the diabetic complications have shown conflicting re...

journal_title：Molecular genetics and metabolism

authors： dos Santos KG,Canani LH,Gross JL,Tschiedel B,Pires Souto KE,Roisenberg I

更新日期：2005-06-01 00:00:00

abstract：:1,2,3-Benzenetricarboxylate (BTA) and n-butylmalonate (BM), specific inhibitors of the mitochondrial tricarboxylate and dicarboxylate carrier, respectively, have been used to study the contribution of citrate export from mitochondria to the accumulation of fat in 3T3-L1 cells. Continuous treatment of the cells with BT...

journal_title：Molecular genetics and metabolism

authors： Kajimoto K,Terada H,Baba Y,Shinohara Y

更新日期：2005-05-01 00:00:00

abstract：:A six-day-old girl was referred for severe hepatic failure, dehydratation, axial hypotonia, and both lactic acidosis and ketoacidosis. Biotin-unresponsive pyruvate carboxylase deficiency type B was diagnosed. Triheptanoin, an odd-carbon triglyceride, was administrated as a source for acetyl-CoA and anaplerotic propion...

journal_title：Molecular genetics and metabolism

authors： Mochel F,DeLonlay P,Touati G,Brunengraber H,Kinman RP,Rabier D,Roe CR,Saudubray JM

更新日期：2005-04-01 00:00:00

abstract：:Cerebral folate deficiency is characterized by low cerebrospinal fluid (CSF) concentrations of 5-methyltetrahydrofolate and a broad spectrum of clinical signs and symptoms. A patient with progressive spasticity, gait disturbance, speech difficulties, initially diagnosed as a recessive spastic paraplegia recovered on f...

journal_title：Molecular genetics and metabolism

authors： Hansen FJ,Blau N

更新日期：2005-04-01 00:00:00