abstract：:The disorders of serine biosynthesis are a group of inborn errors of metabolism characterised by congenital microcephaly, seizures and severe psychomotor retardation. Although these disorders are rare the prompt recognition of serine deficiency is important as these disorders are treatable. The diagnosis is based on d...

journal_title：Molecular genetics and metabolism

authors： Moat S,Carling R,Nix A,Henderson M,Briddon A,Prunty H,Talbot R,Powell A,Wright K,Fuchs S,de Koning T

更新日期：2010-10-01 00:00:00

abstract：:Creatine and creatine phosphate provide storage and transmission of phosphate-bound energy in muscle and brain. Of the three inborn errors of creatine metabolism causing brain creatine depletion, l-arginine:glycine amidinotransferase (AGAT) deficiency has been described in only two families. We describe clinical and b...

journal_title：Molecular genetics and metabolism

authors： Edvardson S,Korman SH,Livne A,Shaag A,Saada A,Nalbandian R,Allouche-Arnon H,Gomori JM,Katz-Brull R

更新日期：2010-10-01 00:00:00

abstract：:MPS IIIA is a lysosomal storage disorder caused by mutations in the sulphamidase gene, resulting in the accumulation of heparan sulphate glycosaminoglycans (HS GAGs). Symptoms predominantly manifest in the CNS and there is no current therapy that effectively addresses neuropathology in MPS IIIA patients. Recent studie...

journal_title：Molecular genetics and metabolism

authors： Roberts AL,Fletcher JM,Moore L,Byers S

更新日期：2010-10-01 00:00:00

abstract：BACKGROUND:Flow-injection MS/MS methods for elevated acylcarnitines are routinely performed in most newborn screening and biochemical genetics laboratories; however this technique cannot distinguish between isobaric compounds; therefore, chromatographic separation is required to quantitate isomers for differential diag...

journal_title：Molecular genetics and metabolism

authors： Forni S,Fu X,Palmer SE,Sweetman L

更新日期：2010-09-01 00:00:00

abstract：RATIONALE:We previously reported that mitogen-activated protein kinase phosphatase-1 (MKP-1) expression is necessary for oxidized phospholipids to induce monocyte chemoattractant protein-1 (MCP-1) secretion by human aortic endothelial cells. We also reported that inhibition of tyrosine phosphatases including MKP-1 amel...

journal_title：Molecular genetics and metabolism

authors： Imaizumi S,Grijalva V,Priceman S,Wu L,Su F,Farias-Eisner R,Hama S,Navab M,Fogelman AM,Reddy ST

更新日期：2010-09-01 00:00:00

abstract：:Maple syrup urine disease is an autosomal recessive disorder of branched-chain amino acids metabolism with a worldwide frequency of 1/185,000 live newborns. In Portugal, the incidence of the disease has not been assessed. Based on the review of the cases diagnosed by tandem mass spectrometry an incidence of 1/86,800 l...

journal_title：Molecular genetics and metabolism

authors： Quental S,Vilarinho L,Martins E,Teles EL,Rodrigues E,Diogo L,Garcia P,Eusébio F,Gaspar A,Sequeira S,Amorim A,Prata MJ

更新日期：2010-08-01 00:00:00

abstract：:Medium-chain acyl-coA dehydrogenase (MCAD) deficiency is a commonly detected fatty acid oxidation disorder and its diagnosis relies on both biochemical and molecular analyses. Over a 5-year period, sequencing all 12 exons of the MCAD gene (ACADM) in our laboratory revealed a total of 54 variants in 549 subjects analyz...

journal_title：Molecular genetics and metabolism

authors： Smith EH,Thomas C,McHugh D,Gavrilov D,Raymond K,Rinaldo P,Tortorelli S,Matern D,Highsmith WE,Oglesbee D

更新日期：2010-07-01 00:00:00

abstract：:Sequence capture enrichment (SCE) strategies and massively parallel next generation sequencing (NGS) are expected to increase the rate of gene discovery for genetically heterogeneous hereditary diseases, but at present, there are very few examples of successful application of these technologic advances in translationa...

journal_title：Molecular genetics and metabolism

authors： Raca G,Jackson C,Warman B,Bair T,Schimmenti LA

更新日期：2010-06-01 00:00:00

abstract：:Glut-1 facilitates the diffusion of glucose across the blood-brain barrier and is responsible for glucose entry into the brain. Impaired glucose transport across the blood-brain barrier results in Glut-1 deficiency syndrome (Glut-1 DS, OMIM 606777), characterized in its most severe form by infantile seizures, developm...

journal_title：Molecular genetics and metabolism

authors： Levy B,Wang D,Ullner PM,Engelstad K,Yang H,Nahum O,Chung WK,De Vivo DC

更新日期：2010-06-01 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：:A key unresolved question in the pathogenesis of phenotype development in nephropathic cystinosis is whether intralysosomal cystine, the hallmark of this lethal inborn error of metabolism, alters cytoplasmic redox potential. Variable findings on this issue have been reported. This study of fetal and non-fetal skin and...

journal_title：Molecular genetics and metabolism

authors： Vitvitsky V,Witcher M,Banerjee R,Thoene J

更新日期：2010-04-01 00:00:00

abstract：:Individuals with early-treated phenylketonuria (ETPKU) most often present with impairment in executive function (EF) and average intelligence compared to the general population. The topic of this review, which is less often discussed, is non-EF impairments that may be associated with ETPKU. Studies that have included ...

journal_title：Molecular genetics and metabolism

authors： Janzen D,Nguyen M

更新日期：2010-01-01 00:00:00

abstract：:N-acetylglutamate (NAG) is a unique enzyme cofactor, essential for liver ureagenesis in mammals while it is the first committed substrate for de novo arginine biosynthesis in microorganisms and plants. The enzyme that produces NAG from glutamate and CoA, NAG synthase (NAGS), is allosterically inhibited by arginine in ...

journal_title：Molecular genetics and metabolism

authors： Caldovic L,Ah Mew N,Shi D,Morizono H,Yudkoff M,Tuchman M

更新日期：2010-01-01 00:00:00

abstract：:Thymidine kinase 2 (TK2), encoded by the TK2 gene on chromosome 16q22, is one of the deoxyribonucleoside kinases responsible for the maintenance of mitochondrial deoxyribonucleotide pools. Defects in TK2 mainly cause a myopathic form of the mitochondrial DNA depletion syndrome (MDDS). Currently, only point mutations a...

journal_title：Molecular genetics and metabolism

authors： Zhang S,Li FY,Bass HN,Pursley A,Schmitt ES,Brown BL,Brundage EK,Mardach R,Wong LJ

更新日期：2010-01-01 00:00:00

abstract：:Patients with neonatal urea cycle defects (UCDs) typically have high mortality and poor neurological outcome unless they receive liver transplantation. Neurologic outcome may be better with liver transplantation before age one year. We report on a follow up on an initial prospective study performed to assess developme...

journal_title：Molecular genetics and metabolism

authors： Campeau PM,Pivalizza PJ,Miller G,McBride K,Karpen S,Goss J,Lee BH

更新日期：2010-01-01 00:00:00

abstract：BACKGROUND:The mucopolysaccharidoses (MPSs) are a family of lysosomal storage disorders caused by impaired glycosaminoglycan degradation. Characteristic brain imaging abnormalities are seen in MPS patients. This study aims to determine the effects of hematopoietic stem cell transplantation (HSCT) and/or intravenous enz...

journal_title：Molecular genetics and metabolism

authors： Wang RY,Cambray-Forker EJ,Ohanian K,Karlin DS,Covault KK,Schwartz PH,Abdenur JE

更新日期：2009-12-01 00:00:00

abstract：:Congenital disorders of glycosylation (CDG) are an expanding group of inherited disorders caused by defects in the N- or O-Glycosylation of proteins and lipids. Several CDG subtypes have been described so far, including CDG type Ih which is caused by a deficiency of the dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl...

journal_title：Molecular genetics and metabolism

authors： Stölting T,Omran H,Erlekotte A,Denecke J,Reunert J,Marquardt T

更新日期：2009-11-01 00:00:00

abstract：:Elevated plasma concentration of total homocysteine (tHcy) has been linked with many diseases. tHcy is associated with a variety of factors, including polymorphisms in genes involved in homocysteine metabolism. It is not clear whether US-mandated fortification of grain products with folic acid has affected the associa...

journal_title：Molecular genetics and metabolism

authors： Tsai MY,Loria CM,Cao J,Kim Y,Siscovick DS,Schreiner PJ,Hanson NQ

更新日期：2009-09-01 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：:Leigh syndrome is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, optic atrophy, ataxia, dystonia, failure to thrive, seizures and respiratory failure. In this study, we performed a systematic sequence analysis of mitochondrial genes...

journal_title：Molecular genetics and metabolism

authors： Mkaouar-Rebai E,Chamkha I,Kammoun F,Kammoun T,Aloulou H,Hachicha M,Triki C,Fakhfakh F

更新日期：2009-07-01 00:00:00

abstract：OBJECTIVE:To better delineate the natural history of patients with methylmalonic aciduria (MMA). STUDY DESIGN:Thirty patients with vitamin-B12-unresponsive MMA (25 aged 1.5 to 22.0 years (y) at the end of the study and 5 who died during a metabolic crisis) were managed following standardized guidelines and studied ret...

journal_title：Molecular genetics and metabolism

authors： Cosson MA,Benoist JF,Touati G,Déchaux M,Royer N,Grandin L,Jais JP,Boddaert N,Barbier V,Desguerre I,Campeau PM,Rabier D,Valayannopoulos V,Niaudet P,de Lonlay P

更新日期：2009-07-01 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：:Screening for mutations in the low density lipoprotein receptor (LDLR) gene has identified more than 1000 mutations as the cause of familial hypercholesterolemia (FH). In addition, numerous intronic mutations with uncertain effects on pre-mRNA splicing have also been identified. In this study, we have selected 18 intr...

journal_title：Molecular genetics and metabolism

authors： Holla ØL,Nakken S,Mattingsdal M,Ranheim T,Berge KE,Defesche JC,Leren TP

更新日期：2009-04-01 00:00:00

abstract：:We studied 11 Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and found a common mutation, c.449-452delCTGA, which accounted for 45% of the mutations. Seven of 10 independent patients carried at least one copy of this mutation. Phenotypes of homozygous patients with the c.449-452delCTGA m...

journal_title：Molecular genetics and metabolism

authors： Purevsuren J,Kobayashi H,Hasegawa Y,Mushimoto Y,Li H,Fukuda S,Shigematsu Y,Fukao T,Yamaguchi S

更新日期：2009-02-01 00:00:00

abstract：:Over 7000 rare diseases, each <200,000 US residents, affect nearly 30 million people in the United States. Furthermore, for the 10% of people with a rare disease and for their families, these disorders no longer seem rare. Molecular genetics have characterized the cause of many rare diseases and provide unprecedented ...

journal_title：Molecular genetics and metabolism

authors： Griggs RC,Batshaw M,Dunkle M,Gopal-Srivastava R,Kaye E,Krischer J,Nguyen T,Paulus K,Merkel PA,Rare Diseases Clinical Research Network.

更新日期：2009-01-01 00:00:00

abstract：:The glucose-6-phosphate transporter (G6PT) deficient in glycogen storage disease type Ib is a phosphate (P(i))-linked antiporter capable of G6P: P(i) and P(i):P(i) exchanges. We previously characterized G6PT mutations by measuring G6P uptake activities in microsomes co-expressing G6PT and glucose-6-phosphatase-alpha. ...

journal_title：Molecular genetics and metabolism

authors： Chen SY,Pan CJ,Lee S,Peng W,Chou JY

更新日期：2008-12-01 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：:Fat cell lipolysis, the cleavage of triglycerides and release of fatty acids and glycerol, evolved to enable survival during prolonged food deprivation but is paradoxically increased in obesity, in which a surfeit of all energy metabolites is found. Essential, previously-unsuspected components have been discovered in ...

journal_title：Molecular genetics and metabolism

authors： Wang S,Soni KG,Semache M,Casavant S,Fortier M,Pan L,Mitchell GA

更新日期：2008-11-01 00:00:00

abstract：:The mitochondrial 13513G>A (D393N) mutation in the ND5 subunit of the respiratory chain complex I was initially described in association with MELAS syndrome. Recent observations have linked this mutation to Leigh disease. We screened for the 13513G>A mutation in a cohort of 265 patients with Leigh and Leigh-like disea...

journal_title：Molecular genetics and metabolism

authors： Brautbar A,Wang J,Abdenur JE,Chang RC,Thomas JA,Grebe TA,Lim C,Weng SW,Graham BH,Wong LJ

更新日期：2008-08-01 00:00:00

abstract：:The association of fetal hydrops with Congenital Disorders of Glycosylation (CDG) has been reported previously. Pericardial fluid accumulation and ascites were also observed in a few young patients with CDG type Ia. Here we describe the clinical and biochemical features in three children developing life-threatening ex...

journal_title：Molecular genetics and metabolism

authors： Truin G,Guillard M,Lefeber DJ,Sykut-Cegielska J,Adamowicz M,Hoppenreijs E,Sengers RC,Wevers RA,Morava E

更新日期：2008-08-01 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：:Fabry disease is an under-recognized X-linked lysosomal disorder, due to alpha-galactosidase A deficiency. Most of the mutations in the GLA gene are detectable using genomic sequencing analysis. However, deletions of one or more exons or deletion encompassing the entire gene are undetectable, especially in heterozygou...

journal_title：Molecular genetics and metabolism

authors： Schirinzi A,Centra M,Prattichizzo C,Gigante M,De Fabritiis M,Giancaspro V,Petrarulo F,Santacroce R,Margaglione M,Gesualdo L,Ranieri E

更新日期：2008-07-01 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：:Acute intermittent porphyria (AIP) is an autosomal dominant disorder of heme biosynthesis caused by molecular defects in the hydroxymethylbilane synthase (HMBS) gene. In this study, we report two novel missense sequence variations in the HMBS gene, T59I (C176T) and V215M (G643A), in two patients with clinical symptoms...

journal_title：Molecular genetics and metabolism

authors： Schneider-Yin X,Ulbrichova D,Mamet R,Martasek P,Marohnic CC,Goren A,Minder EI,Schoenfeld N

更新日期：2008-07-01 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：: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 determined the ability of self-complementary adeno-associated virus (scAAV) vectors to deliver and express the pyruvate dehydrogenase E1alpha subunit gene (PDHA1) in primary cultures of skin fibroblasts from 3 patients with defined mutations in PHDA1 and 3 healthy subjects. Cells were transduced with scAAV vectors ...

journal_title：Molecular genetics and metabolism

authors： Han Z,Berendzen K,Zhong L,Surolia I,Chouthai N,Zhao W,Maina N,Srivastava A,Stacpoole PW

更新日期：2008-04-01 00:00:00

abstract：:Glycogen storage disease type I (GSD I) is a metabolic disorder resulting from defects in the glucose-6-phosphatase system. Approximately 75% of adolescent and adult patients develop hepatocellular adenomas, which can lead to considerable morbidity and mortality. The pathogenesis of adenomas is unclear and the risk of...

journal_title：Molecular genetics and metabolism

authors： Di Rocco M,Calevo MG,Taro' M,Melis D,Allegri AE,Parenti G

更新日期：2008-04-01 00:00:00

abstract：:3-MCC deficiency is among the most common inborn errors of metabolism identified on expanded newborn screening (1:36,000 births). However, evidence-based guidelines for diagnosis and management of this disorder are lacking. Using the traditional Delphi method, a panel of 15 experts in inborn errors of metabolism was c...

journal_title：Molecular genetics and metabolism

authors： Arnold GL,Koeberl DD,Matern D,Barshop B,Braverman N,Burton B,Cederbaum S,Fiegenbaum A,Garganta C,Gibson J,Goodman SI,Harding C,Kahler S,Kronn D,Longo N

更新日期：2008-04-01 00:00:00

abstract：:To elucidate the basis of mucopolysaccharidosis type VI (MPS VI) from the point of view of enzyme structure, we built structural models of mutant N-acetylgalactosamine-4-sulfatase (4S) resulting from 34 missense mutations (17 severe and 17 attenuated), and analyzed the influence of each amino acid replacement on the s...

journal_title：Molecular genetics and metabolism

authors： Saito S,Ohno K,Sugawara K,Sakuraba H

更新日期：2008-04-01 00:00:00