Propionyl-CoA carboxylase - A review.

abstract：:In mammals, the conversion of alpha-aminoadipate to alpha-ketoadipate by alpha-aminoadipate aminotransferase (AADAT) is an intermediate step in lysine degradation. A gene encoding for alpha-aminoadipate aminotransferase and kynurenine aminotransferase activities had been previously identified in the rat (KAT/AadAT). W...

journal_title：Molecular genetics and metabolism

authors： Goh DL,Patel A,Thomas GH,Salomons GS,Schor DS,Jakobs C,Geraghty MT

更新日期：2002-07-01 00:00:00

abstract：INTRODUCTION:Telomeres may be considered markers of biological aging, shorter telomere length is associated with some age-related diseases; in several studies short telomere length has also been associated to obesity in adults and adolescents. However the relationship between telomere complex functions and obesity is s...

journal_title：Molecular genetics and metabolism

authors： Carulli L,Anzivino C,Baldelli E,Zenobii MF,Rocchi MB,Bertolotti M

更新日期：2016-06-01 00:00:00

abstract：:In utero cocaine exposure can affect CNS development. Previous studies showed that cocaine inhibits neuronal differentiation in a dose-dependent fashion, in nerve growth factor (NGF)-stimulated PC12 cells, without affecting cell viability. NGF activates intracellular signaling proteins, specific immediate-early genes ...

journal_title：Molecular genetics and metabolism

authors： Zachor DA,Moore JF,Jin J,Theibert AB,Percy AK

更新日期：1998-05-01 00:00:00

abstract：:We report the clinical course and biochemical findings of a 10-year-old, mentally retarded girl with late-onset holocarboxylase synthetase (HCS, gene symbol HLCS) deficiency and only partial response to biotin. On treatment, even with an unusually high dose of 200mg/day, activities of the biotin-dependent mitochondria...

journal_title：Molecular genetics and metabolism

authors： Santer R,Muhle H,Suormala T,Baumgartner ER,Duran M,Yang X,Aoki Y,Suzuki Y,Stephani U

更新日期：2003-07-01 00:00:00

abstract：BACKGROUND:There is current expansion of newborn screening (NBS) programs to include lysosomal storage disorders because of the availability of treatments that produce an optimal clinical outcome when started early in life. OBJECTIVE:To evaluate the performance of a multiplex-tandem mass spectrometry (MS/MS) enzymatic...

journal_title：Molecular genetics and metabolism

authors： Elliott S,Buroker N,Cournoyer JJ,Potier AM,Trometer JD,Elbin C,Schermer MJ,Kantola J,Boyce A,Turecek F,Gelb MH,Scott CR

更新日期：2016-08-01 00:00:00

abstract：:Brody disease is an inherited myopathy associated with a defective function of sarcoplasmic/endoplasmic reticulum Ca(2+)-ATPase 1 (SERCA1) protein. Mutations in the ATP2A1 gene have been reported only in some patients. Therefore it has been proposed to distinguish patients with ATP2A1 mutations, Brody disease (BD), fr...

journal_title：Molecular genetics and metabolism

authors： Guglielmi V,Vattemi G,Gualandi F,Voermans NC,Marini M,Scotton C,Pegoraro E,Oosterhof A,Kósa M,Zádor E,Valente EM,De Grandis D,Neri M,Codemo V,Novelli A,van Kuppevelt TH,Dallapiccola B,van Engelen BG,Ferlini A,Tomell

更新日期：2013-09-01 00:00:00

abstract：:Mutations in DGUOK result in mitochondrial DNA (mtDNA) depletion and may present as neonatal liver failure. Neonatal hemochromatosis (NH(1)) is a liver disorder of uncertain and varied etiology characterized by hepatic and non-reticuloendothelial siderosis. To date, deoxyguanosine kinase (dGK(2)) deficiency has not be...

journal_title：Molecular genetics and metabolism

authors： Hanchard NA,Shchelochkov OA,Roy A,Wiszniewska J,Wang J,Popek EJ,Karpen S,Wong LJ,Scaglia F

更新日期：2011-07-01 00:00:00

abstract：BACKGROUND:While enzyme replacement therapy (ERT) has been shown to improve endurance and joint mobility for patients with mucopolysaccharidoses (MPS) I, II, IVA and VI, the impact of ERT on cardiac abnormalities remains uncertain. METHODS:Medical records and echocardiograms of 28 Taiwanese MPS patients (9 with MPS I,...

journal_title：Molecular genetics and metabolism

authors： Lin HY,Chuang CK,Chen MR,Lin SM,Hung CL,Chang CY,Chiu PC,Tsai WH,Niu DM,Tsai FJ,Lin SJ,Hwu WL,Lin JL,Lin SP

更新日期：2016-04-01 00:00:00

abstract：:Succinic semialdehyde dehydrogenase (SSADH) deficiency (SSADHD; OMIM 271980) is a rare disorder featuring accumulation of neuroactive 4-aminobutyric acid (GABA; γ-aminobutyric acid, derived from glutamic acid) and 4-hydroxybutyric acid (γ-hydroxybutyric acid; GHB, a short-chain fatty acid analogue of GABA). Elevated G...

journal_title：Molecular genetics and metabolism

authors： Brown M,Turgeon C,Rinaldo P,Roullet JB,Gibson KM

更新日期：2019-12-01 00:00:00

abstract：:Whole exome sequencing (WES) is well established in research and is now being introduced into clinically indicated diagnostics (so-called clinical exomes). We evaluated the diagnostic yield and clinical implications of WES in 72 patients from 60 families with undiagnosed neurodevelopmental disorders (NDD), neurometabo...

journal_title：Molecular genetics and metabolism

authors： Evers C,Staufner C,Granzow M,Paramasivam N,Hinderhofer K,Kaufmann L,Fischer C,Thiel C,Opladen T,Kotzaeridou U,Wiemann S,Schlesner M,Eils R,Kölker S,Bartram CR,Hoffmann GF,Moog U

更新日期：2017-08-01 00:00:00

abstract：BACKGROUND:There appears little consensus concerning protein requirements in phenylketonuria (PKU). METHODS:A questionnaire completed by 63 European and Turkish IMD centres from 18 countries collected data on prescribed total protein intake (natural/intact protein and phenylalanine-free protein substitute [PS]) by age...

journal_title：Molecular genetics and metabolism

authors： Aguiar A,Ahring K,Almeida MF,Assoun M,Belanger Quintana A,Bigot S,Bihet G,Blom Malmberg K,Burlina A,Bushueva T,Caris A,Chan H,Clark A,Clark S,Cochrane B,Corthouts K,Dalmau J,Dassy M,De Meyer A,Didycz B,Diels M,D

更新日期：2015-05-01 00:00:00

abstract：:In the present work we evaluated a variety of indicators of oxidative stress in distinct brain regions (striatum, cerebral cortex and hippocampus), the liver, and heart of 30-day-old glutaryl-CoA dehydrogenase deficient (Gcdh(-/-)) mice. The parameters evaluated included thiobarbituric acid-reactive substances (TBA-RS...

journal_title：Molecular genetics and metabolism

authors： Seminotti B,da Rosa MS,Fernandes CG,Amaral AU,Braga LM,Leipnitz G,de Souza DO,Woontner M,Koeller DM,Goodman S,Wajner M

更新日期：2012-05-01 00:00:00

abstract：:To elucidate the interference mechanisms of valproate (VPA) with mitochondrial fatty acid beta-oxidation (FAO), the profile of acylcarnitine formation was studied in vitro. Human fibroblasts were incubated with 0.2 mmol/L [U-(13)C]palmitate, 0.4 mmol/L l-carnitine, +/- VPA (2 mmol/L) (96 h at 37 degrees C). Acylcarnit...

journal_title：Molecular genetics and metabolism

authors： Silva MF,Jakobs C,Duran M,de Almeida IT,Wanders RJ

更新日期：2001-08-01 00:00:00

abstract：:The thyroid-stimulating hormone (TSH, or thyrotropin) receptor (TSHR) mediates the activating action of TSH to the thyroid gland, resulting in the growth and proliferation of thyrocytes and thyroid hormone production. In Graves' disease, thyroid-stimulating autoantibodies can mimic TSH action and stimulate thyroid cel...

journal_title：Molecular genetics and metabolism

authors： Chistiakov DA

更新日期：2003-12-01 00:00:00

abstract：BACKGROUND:In children with phenylketonuria (PKU), it is possible that high carbohydrate protein substitutes may adversely affect blood phenylalanine control. We evaluated if a low carbohydrate, 'ready-to-drink' protein substitute would impact on short term blood phenylalanine control, weight and appetite in children w...

journal_title：Molecular genetics and metabolism

authors： Gokmen-Ozel H,Ferguson C,Evans S,Daly A,MacDonald A

更新日期：2011-01-01 00:00:00

abstract：BACKGROUND:Treatment of Fabry disease (FD) with recombinant alpha-galactosidase A (r-αGAL A) is complicated by the formation of anti-drug antibodies in the majority of male patients with the classical disease phenotype. Detailed information regarding antibody subtypes, onset and persistence of antibody development and ...

journal_title：Molecular genetics and metabolism

authors： van der Veen SJ,van Kuilenburg ABP,Hollak CEM,Kaijen PHP,Voorberg J,Langeveld M

更新日期：2019-02-01 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：:Tetrahydrobiopterin (BH4) responsiveness in patients with mutations in the phenylalanine hydroxylase (PAH) gene is a recently recognized subtype of hyperphenylalaninemia characterized by a positive BH4 loading test. According to recent estimates, this phenotype may be quite common, suggesting that a large group of ind...

journal_title：Molecular genetics and metabolism

authors： Desviat LR,Pérez B,Bèlanger-Quintana A,Castro M,Aguado C,Sánchez A,García MJ,Martínez-Pardo M,Ugarte M

更新日期：2004-09-01 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：:Enzyme replacement therapy (ERT) with intravenous recombinant human alpha-l-iduronidase (IV rhIDU) is a treatment for patients with mucopolysaccharidosis I (MPS I). Spinal cord compression develops in MPS I patients due in part to dural and leptomeningeal thickening from accumulated glycosaminoglycans (GAG). We tested...

journal_title：Molecular genetics and metabolism

authors： Dickson PI,Hanson S,McEntee MF,Vite CH,Vogler CA,Mlikotic A,Chen AH,Ponder KP,Haskins ME,Tippin BL,Le SQ,Passage MB,Guerra C,Dierenfeld A,Jens J,Snella E,Kan SH,Ellinwood NM

更新日期：2010-10-01 00:00:00

abstract：:Recently, BH(4)-responsive phenylalanine hydroxylase (PAH) deficiency was reported in patients with specific mutations in the PAH gene, and it was suggested that BH(4) responsiveness may be determined by the respective genotypes. We now report on three patients with PAH deficiency and the same genotype but different r...

journal_title：Molecular genetics and metabolism

authors： Lindner M,Haas D,Mayatepek E,Zschocke J,Burgard P

更新日期：2001-05-01 00:00:00

abstract：:The same basic principles are used to deliver dietary treatment in PKU that was developed sixty years ago. Dietary treatment is undoubtedly very successful, but it has gradually evolved and been guided commonly by individual experience and expert opinion only. There is little international consensus about dietary prac...

journal_title：Molecular genetics and metabolism

authors： MacDonald A,Rocha JC,van Rijn M,Feillet F

更新日期：2011-01-01 00:00:00

abstract：:The insulin-like growth factor I receptor (IGF-I-R) has an important role in breast cancer etiology. The receptor is overexpressed by most breast cancers, where it functions as a potent antiapoptotic agent. BRCA1 is a tumor suppressor gene that is mutated in a large fraction of familial breast and ovarian cancers. Cot...

journal_title：Molecular genetics and metabolism

authors： Maor SB,Abramovitch S,Erdos MR,Brody LC,Werner H

更新日期：2000-02-01 00:00:00

abstract：:Novel variants associated with chronic pancreatitis are being increasingly reported. However, most studies have so far only analyzed point mutations and small insertions or deletions. Here we report the characterization of two distinct deletions of the CTRC locus. Variants in four chronic pancreatitis genes, PRSS1, SP...

journal_title：Molecular genetics and metabolism

authors： Masson E,Hammel P,Garceau C,Bénech C,Quéméner-Redon S,Chen JM,Férec C

更新日期：2013-07-01 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：: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：: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：:Among the phenotypes associated with Gaucher disease, the deficiency of glucocerebrosidase, are rare patients with early onset, treatment-refractory parkinsonism. Sequencing of glucocerebrosidase in 17 such patients revealed 12 different genotypes. Fourteen patients had the common "non-neuronopathic" N370S mutation, i...

journal_title：Molecular genetics and metabolism

authors： Tayebi N,Walker J,Stubblefield B,Orvisky E,LaMarca ME,Wong K,Rosenbaum H,Schiffmann R,Bembi B,Sidransky E

更新日期：2003-06-01 00:00:00

abstract：:Since 1999 an increasing number of patients with phenylalanine hydroxylase (PAH) deficiency are reported to be able to decrease their plasma phenylalanine (Phe) concentrations after a 6R-tetrahydrobiopterin (BH(4)) challenge. The majority of these patients have mild PKU or MHP (mild hyperphenylalaninemia) and harbour ...

journal_title：Molecular genetics and metabolism

authors： Spaapen LJ,Rubio-Gozalbo ME

更新日期：2003-02-01 00:00:00

abstract：:Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by variable degrees of oculocutaneous albinism, easy bruisability, and bleeding as a result of deficient platelet dense bodies, and recurrent infections, with neutropenia, impaired chemotaxis and bactericidal activity, and abnormal NK ...

journal_title：Molecular genetics and metabolism

authors： Introne W,Boissy RE,Gahl WA

更新日期：1999-10-01 00:00:00