Allelic variations in superoxide dismutase-1 (SOD1) gene and renal and cardiovascular morbidity and mortality in type 2 diabetic subjects.

abstract：:Genetic testing for the C282Y mutation of the HFE gene has been a major advance in the diagnosis of hereditary hemochromatosis. In most studies, more than 90% of typical hemochromatosis patients are homozygous for the C282Y mutation. Large-scale population screening studies in predominantly Caucasian populations have ...

journal_title：Molecular genetics and metabolism

authors： Adams PC

更新日期：2000-09-01 00:00:00

abstract：:A stop codon defect in methylmalonyl-CoA mutase (resulting in a truncated unstable protein) accounts for up to 14% of mutations identified as causes of Methylmalonic aciduria. There are currently limited treatment regimes for patients with this inherited condition. We aimed to investigate the use of stop codon read-th...

journal_title：Molecular genetics and metabolism

authors： Buck NE,Wood L,Hu R,Peters HL

更新日期：2009-08-01 00:00:00

abstract：:Mucopolysaccharidoses (MPSs) and mucolipidoses (ML) are groups of lysosomal storage disorders in which lysosomal hydrolases are deficient leading to accumulation of undegraded glycosaminoglycans (GAGs), throughout the body, subsequently resulting in progressive damage to multiple tissues and organs. Assays using tande...

journal_title：Molecular genetics and metabolism

authors： Kubaski F,Suzuki Y,Orii K,Giugliani R,Church HJ,Mason RW,Dũng VC,Ngoc CT,Yamaguchi S,Kobayashi H,Girisha KM,Fukao T,Orii T,Tomatsu S

更新日期：2017-03-01 00:00:00

abstract：:We report a transient drop in plasma Hcy and Cys following a single oral dose of PteGlu. The thiol change was concomitant with both the peak plasma 5CH3H4PteGlu1 level (by HPLC) and the maximum plasma Lactobacillus casei activity which reflects absorption of unmodified PteGlu. The significant reciprocal association of...

journal_title：Molecular genetics and metabolism

authors： Lucock MD,Daskalakis I,Schorah CJ,Lumb CH,Oliver M,Devitt H,Wild J,Dowell AC,Levene MI

更新日期：1999-05-01 00:00:00

abstract：OBJECTIVE:To evaluate glycerol phenylbutyrate (GPB) in the treatment of pediatric patients with urea cycle disorders (UCDs). STUDY DESIGN:UCD patients (n=26) ages 2months through 17years were treated with GPB and sodium phenylbutyrate (NaPBA) in two short-term, open-label crossover studies, which compared 24-hour ammo...

journal_title：Molecular genetics and metabolism

authors： Berry SA,Lichter-Konecki U,Diaz GA,McCandless SE,Rhead W,Smith W,Lemons C,Nagamani SC,Coakley DF,Mokhtarani M,Scharschmidt BF,Lee B

更新日期：2014-05-01 00:00:00

abstract：:The disorder trimethylaminuria (TMAu) often manifests itself in a body odor for individuals affected. TMAu is due to decreased metabolism of dietary-derived trimethylamine (TMA). In a healthy individual, 95% or more of TMA is converted by the flavin-containing monooxygenase 3 (FMO3, EC 1.14.13.8) to non-odorous trimet...

journal_title：Molecular genetics and metabolism

authors： Motika MS,Zhang J,Zheng X,Riedler K,Cashman JR

更新日期：2009-06-01 00:00:00

abstract：:Cardiac malformations (CVMs) are a leading cause of infant morbidity and mortality. CVMs are particularly prevalent when the developing fetus is exposed to high levels of phenylalanine in-utero in mothers with Phenylketonuria. Yet, elucidating the underlying molecular mechanism leading to CVMs has proven difficult. In...

journal_title：Molecular genetics and metabolism

authors： Watson JN,Seagraves NJ

更新日期：2019-01-01 00:00:00

abstract：:Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase gene (PAH), while mutations in genes encoding the two enzymes (dihydropteridine reductase, DHPR, and pterin-4-alpha-carbinolamine dehydratase, PCD) required for recycling of its cofactor, tetrahydrobiopterin (BH(4)), cause other rarer diseas...

journal_title：Molecular genetics and metabolism

authors： Waters PJ,Scriver CR,Parniak MA

更新日期：2001-07-01 00:00:00

abstract：:Previous studies from this laboratory have shown that maternal-derived cholesterol can be effluxed from trophoblasts to fetal HDL and plasma. We had the opportunity to study for the first time the ability of HDL and plasma from a fetus with the Smith-Lemli-Opitz syndrome (SLOS) to efflux cholesterol from trophoblasts....

journal_title：Molecular genetics and metabolism

authors： Jenkins KT,Merkens LS,Tubb MR,Myatt L,Davidson WS,Steiner RD,Woollett LA

更新日期：2008-06-01 00:00:00

abstract：:Anderson-Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency of the hydrolytic enzyme alpha galactosidase A, with consequent accumulation of globotrioasoyl ceramide in cells and tissues of the body, resulting in a multi-system pathology including end organ failure. In the classical ph...

journal_title：Molecular genetics and metabolism

authors： Pisani A,Visciano B,Roux GD,Sabbatini M,Porto C,Parenti G,Imbriaco M

更新日期：2012-11-01 00:00:00

abstract：:Cobalamin (Cbl, B(12)) is an essential micronutrient required to fulfill the enzymatic reactions of cytosolic methylcobalamin-dependent methionine synthase and mitochondrial adenosylcobalamin-dependent methylmalonyl-CoA mutase. Mutations in the MMACHC gene (cblC complementation group) disrupt processing of the upper-a...

journal_title：Molecular genetics and metabolism

authors： Hannibal L,DiBello PM,Yu M,Miller A,Wang S,Willard B,Rosenblatt DS,Jacobsen DW

更新日期：2011-07-01 00:00:00

abstract：:Glycogen storage disease type I (GSD I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting hypoglycemia, lactic acidosis, hyperuricemia and hyperlipidemia. Sixteen out of 26 (61.5%) GSD I patients in our study had suboptimal levels (<30 ng/ml) of 25-hydroxyvitamin-D (25(OH)D) des...

journal_title：Molecular genetics and metabolism

authors： Banugaria SG,Austin SL,Boney A,Weber TJ,Kishnani PS

更新日期：2010-04-01 00:00:00

abstract：BACKGROUND AND OBJECTIVES:Policies for genetic testing in children (GTIC) focus on medical or psychosocial benefit to the child, discouraging or prohibiting carrier testing, and advising caution regarding pre-symptomatic diagnosis if no treatment exists. This study sought to understand parents' perspectives on these is...

journal_title：Molecular genetics and metabolism

authors： Adams HR,Rose K,Augustine EF,Kwon JM,deBlieck EA,Marshall FJ,Vierhile A,Mink JW,Nance MA

更新日期：2014-02-01 00:00:00

abstract：:Solubilized A1 adenosine receptor (A1AR) was used to investigate the effect of several cations on agonist-binding characteristics and GTP hydrolysis. It was shown by Western blot with G beta-M14 that this preparation contains both G proteins and receptor. The role of the receptor molecule is to facilitate the activati...

journal_title：Molecular genetics and metabolism

authors： Minelli A,Allegrucci C,Rosati R,Mezzasoma I

更新日期：1998-03-01 00:00:00

abstract：:Saposin A is a post-translation product of the prosaposin (PSAP) gene that serves as an activator protein of the galactocerebrosidase (GALC) enzyme, and is necessary for the degradation of certain glycosphingolipids. Deficiency of saposin A leads to a clinical picture identical to that of early-infantile Krabbe diseas...

journal_title：Molecular genetics and metabolism

authors： Calderwood L,Wenger DA,Matern D,Dahmoush H,Watiker V,Lee C

更新日期：2020-02-01 00:00:00

abstract：:A high homocysteine phenotype, often accompanied by low folate, is associated with several pathologies including cardiovascular disease and birth defects. This phenotype appears to be influenced by both genetic and environmental factors, which may act in a sex-dependent manner. The present analyses were undertaken to ...

journal_title：Molecular genetics and metabolism

authors： Stanisławska-Sachadyn A,Woodside JV,Brown KS,Young IS,Murray L,McNulty H,Strain JJ,Boreham CA,Scott JM,Whitehead AS,Mitchell LE

更新日期：2008-04-01 00:00:00

abstract：:We report here the case of a young male who started to show verbal fluency disturbance, clumsiness and gait anomalies at the age of 3.5years and presented bilateral striatal necrosis. Clinically, the diagnosis was compatible with Leigh syndrome but the underlying molecular defect remained elusive even after exome anal...

journal_title：Molecular genetics and metabolism

authors： Bianciardi L,Imperatore V,Fernandez-Vizarra E,Lopomo A,Falabella M,Furini S,Galluzzi P,Grosso S,Zeviani M,Renieri A,Mari F,Frullanti E

更新日期：2016-11-01 00:00:00

abstract：:Inherited defects in glutaryl-CoA dehydrogenase cause the neurometabolic disease, glutaric acidemia type I. Five of over 80 mutations that have been identified are located in a carboxyl-terminal domain. The five mutations were generated by site directed mutagenesis and expressed in Escherichia coli. The mutant dehydro...

journal_title：Molecular genetics and metabolism

authors： Westover JB,Goodman SI,Frerman FE

更新日期：2003-08-01 00:00:00

abstract：BACKGROUND:Pyruvoyl Tetrahydropterin Synthase (PTPS) Deficiency is the most common form of BH4 deficiency resulting in hyperphenylalaninemia. It can have variable clinical severity and there is limited information on the clinical presentation, natural history and effectiveness of newborn screening for this condition. ...

journal_title：Molecular genetics and metabolism

authors： Manzoni F,Salvatici E,Burlina A,Andrews A,Pasquali M,Longo N

更新日期：2020-12-01 00:00:00

abstract：:Niemann-Pick type C1 (NPC1) is a rare neurodegenerative disease. In NPC1 mouse cerebella, the antibacterial enzyme, lysozyme (Lyz2), is significantly increased in multiple cell types. Due to its possible role in toxic fibril deposition, we confirmed Lyz2 overexpression in culture in different control and NPC1 cell typ...

journal_title：Molecular genetics and metabolism

authors： Cougnoux A,Yerger JC,Fellmeth M,Serra-Vinardell J,Wassif CA,Cawley NX,Porter FD

更新日期：2020-11-01 00:00:00

abstract：:Pompe disease is a rare, autosomal recessive disorder characterized by deficiency of lysosomal acid alpha-glucosidase and accumulation of lysosomal glycogen in many tissues. The variable clinical manifestations, broad phenotypic spectrum, and overlap of signs and symptoms with other neuromuscular diseases make diagnos...

journal_title：Molecular genetics and metabolism

authors： Kishnani PS,Amartino HM,Lindberg C,Miller TM,Wilson A,Keutzer J

更新日期：2014-09-01 00:00:00

abstract：:Congenital generalized lipodystrophy (CGL), characterized by generalized absence of adipose tissue, has heterogeneous causes. Recently, a novel type of CGL complicated by muscular dystrophy was categorized as CGL4 caused by PTRF-CAVIN deficiency. However, it is unknown whether CGL4 exhibits clinical abnormalities duri...

journal_title：Molecular genetics and metabolism

authors： Dwianingsih EK,Takeshima Y,Itoh K,Yamauchi Y,Awano H,Malueka RG,Nishida A,Ota M,Yagi M,Matsuo M

更新日期：2010-10-01 00:00:00

abstract：:We investigated the molecular basis of hereditary fructose intolerance (HFI) in 160 patients from 92 families by means of a PCR-based mutation screening strategy, consisting of restriction enzyme digestion and direct sequencing. Sixteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients...

journal_title：Molecular genetics and metabolism

authors： Davit-Spraul A,Costa C,Zater M,Habes D,Berthelot J,Broué P,Feillet F,Bernard O,Labrune P,Baussan C

更新日期：2008-08-01 00:00:00

abstract：:Mevalonate kinase deficiency is a rare autosomal recessively inherited organic aciduria with a complex multi-systemic phenotype. We describe two deceased patients with clinically severe mevalonate kinase (MK) deficiency confirmed by MK mutation analysis. The phenotype in our patients ranged from neonatal hydrops in th...

journal_title：Molecular genetics and metabolism

authors： Prasad C,Salvadori MI,Rupar CA

更新日期：2012-12-01 00:00:00

abstract：:Betaine-homocysteine methyltransferase (BHMT) catalyzes the remethylation of homocysteine. BHMT2 encodes a protein 73% identical in amino acid sequence to BHMT, but the function of BHMT2 remains unclear. We set out to identify and functionally characterize common genetic variation in BHMT and BHMT2. Specifically, we s...

journal_title：Molecular genetics and metabolism

authors： Li F,Feng Q,Lee C,Wang S,Pelleymounter LL,Moon I,Eckloff BW,Wieben ED,Schaid DJ,Yee V,Weinshilboum RM

更新日期：2008-07-01 00:00:00

abstract：:The Wnt pathway has been shown to play an important role in maintenance of stem cells and cell fate decisions in embryonic and adult stem cell populations. Activation of the Wnt pathway in mesenchymal stem cells and 3 T3-L1 cells inhibits adipogenesis and can lead to osteoblastogenesis. To evaluate the role of the Wnt...

journal_title：Molecular genetics and metabolism

authors： Van Camp JK,Beckers S,Zegers D,Verrijken A,Van Gaal LF,Van Hul W

更新日期：2012-03-01 00:00:00

abstract：:Mutated deoxyguanosine kinase (dGK), which catalyses the first step of the mitochondrial deoxypurine salvage pathway, accounts for a hepatocerebral variant of mitochondrial DNA (mtDNA) depletion syndromes. In order to elucidate the pathogenic mechanism of dGK deficiency, mitochondrial and cytoplasmic deoxyribonucleosi...

journal_title：Molecular genetics and metabolism

authors： Saada A

更新日期：2008-11-01 00:00:00

abstract：:Propionyl-CoA carboxylase (PCC) is the enzyme which catalyzes the carboxylation of propionyl-CoA to methylmalonyl-CoA and is encoded by the genes PCCA and PCCB to form a hetero-dodecamer. Dysfunction of PCC leads to the inherited metabolic disorder propionic acidemia, which can result in an affected individual present...

journal_title：Molecular genetics and metabolism

authors： Wongkittichote P,Ah Mew N,Chapman KA

更新日期：2017-12-01 00:00:00

abstract：:Ornithine transcarbamylase deficiency is a very heterogeneous urea cycle disorder resulting in hyperammonemia with various presentations from the neonatal period through adulthood. We performed a retrospective study in nine patients (four male/five female, age at diagnosis ranging from 6 days to 14 years) to evaluate ...

journal_title：Molecular genetics and metabolism

authors： Burlina AB,Ogier H,Korall H,Trefz FK

更新日期：2001-04-01 00:00:00

abstract：:Bloom syndrome is more common in individuals of Ashkenazi Jewish descent than in any other population, and one particular mutation in the Bloom syndrome gene, blmAsh, is homozygous in nearly all Ashkenazi Jewish persons with Bloom syndrome. We have determined the frequency of blmAsh in 1491 Ashkenazi Jewish persons wi...

journal_title：Molecular genetics and metabolism

authors： Li L,Eng C,Desnick RJ,German J,Ellis NA

更新日期：1998-08-01 00:00:00