当前位置： SCI文献检索 > MOLECULAR GENETICS AND METABOLISM期刊下所有文献 > Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.

Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.

Abstract：

:We describe three novel deletions in the human AGT gene in three patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme, alanine glyoxylate aminotransferase (AGT; EC 2.6.1.44). A deletion of 4 nucleotides in the exon 6/intron 6 splice junction (679-IVS6+2delAAgt) is expected to cause missplicing. It would also code for a K227E missense alteration in any mRNA successfully spliced. A 2-bp deletion in exon 11 (1125-1126del CG, cDNA) results in a frameshift. A deletion of at least 5-6 kb, EX1 EX5del, spanned exons 1-5 and contiguous upstream sequence. All three deletions are heterozygous with previously documented missense mutations; the intron 6 deletion with F152I, the exon 11 deletion with G82E, and EX1 EX5del with the common mistargeting mutation, G170R.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Coulter-Mackie MB,Rumsby G,Applegarth DA,Toone JR

doi

10.1006/mgme.2001.3222

subject

Has Abstract

pub_date

2001-11-01 00:00:00

pages

314-21

issue

3

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(01)93222-6

journal_volume

74

pub_type

杂志文章

相关文献

MOLECULAR GENETICS AND METABOLISM文献大全
  • Molecular genetics of HMG-CoA lyase deficiency.

    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

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2007.06.020

    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

  • A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome).

    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

    pub_type： 杂志文章,随机对照试验

    doi：10.1016/j.ymgme.2006.09.001

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

    更新日期：2007-03-01 00:00:00

  • Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.

    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

    pub_type： 杂志文章

    doi：10.1006/mgme.2001.3168

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

    更新日期：2001-05-01 00:00:00

  • Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.

    abstract：OBJECTIVE:To evaluate the efficacy and safety of dietary lysine restriction as an adjunct to pyridoxine therapy on biochemical parameters, seizure control, and developmental/cognitive outcomes in children with pyridoxine-dependent epilepsy (PDE) caused by antiquitin (ATQ) deficiency. METHODS:In this observational stud...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,多中心研究

    doi：10.1016/j.ymgme.2012.09.006

    authors： van Karnebeek CD,Hartmann H,Jaggumantri S,Bok LA,Cheng B,Connolly M,Coughlin CR 2nd,Das AM,Gospe SM Jr,Jakobs C,van der Lee JH,Mercimek-Mahmutoglu S,Meyer U,Struys E,Sinclair G,Van Hove J,Collet JP,Plecko BR,Stockler

    更新日期：2012-11-01 00:00:00

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

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2008.12.014

    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

  • Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.10.019

    authors： Prasad C,Salvadori MI,Rupar CA

    更新日期：2012-12-01 00:00:00

  • Folate-homocysteine interrelations: potential new markers of folate status.

    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

    pub_type： 杂志文章

    doi：10.1006/mgme.1999.2813

    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

  • Hereditary renal hypouricemia.

    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

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2006.03.015

    authors： Sperling O

    更新日期：2006-09-01 00:00:00

  • Histochemical localization of palmitoyl protein thioesterase-1 activity.

    abstract：:Infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease) is an invariably fatal neurodegenerative pediatric disorder caused by an inherited mutation in the PPT1 gene. Patients with INCL lack the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1, EC 3.1.2.22), resulting in intracellular accumulat...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2015.11.004

    authors： Dearborn JT,Ramachandran S,Shyng C,Lu JY,Thornton J,Hofmann SL,Sands MS

    更新日期：2016-02-01 00:00:00

  • Cerebral glucose metabolism in adults with early treated classic phenylketonuria.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2005.06.010

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

    更新日期：2006-03-01 00:00:00

  • Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

    abstract：:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal disorder characterized by progressive gastrointestinal dysmotility, peripheral neuropathy, leukoencephalopathy, skeletal myopathy, ophthalmoparesis, and ptosis. MNGIE stems from deficient thymidine phosphorylase activity (TP) leading to toxic ele...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2020.03.001

    authors： Kripps K,Nakayuenyongsuk W,Shayota BJ,Berquist W,Gomez-Ospina N,Esquivel CO,Concepcion W,Sampson JB,Cristin DJ,Jackson WE,Gilliland S,Pomfret EA,Kueht ML,Pettit RW,Sherif YA,Emrick LT,Elsea SH,Himes R,Hirano M,Van H

    更新日期：2020-05-01 00:00:00

  • Long-term outcome in methylmalonic aciduria: a series of 30 French patients.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2009.03.006

    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

  • Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2005.06.005

    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

  • Disorders of purine and pyrimidine metabolism.

    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

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2005.07.027

    authors： Nyhan WL

    更新日期：2005-09-01 00:00:00

  • Human betaine-homocysteine methyltransferase (BHMT) and BHMT2: common gene sequence variation and functional characterization.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2008.03.013

    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

  • Mechanism of ruminant placental lactogen action: molecular and in vivo studies.

    abstract：:Ruminant placental lactogens (PLs) are structurally related to prolactins (PRLs) and growth hormones (GHs) and are secreted by placentae. Ruminant PLs are unusual in their capacity to bind and activate PRL and GH receptors (Rs) from other species. The present minireview summarizes several works showing that unlike in ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1006/mgme.2002.3303

    authors： Gertler A,Djiane J

    更新日期：2002-03-01 00:00:00

  • Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

    abstract：:Combined alpha-delta platelet storage pool deficiency is characterized by the absence or reduction in the number of both alpha granules and dense bodies. This disorder can have variable severity as well as a variable inheritance pattern. We describe two patients from unrelated families with combined alpha-delta storag...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2016.12.006

    authors： Ferreira CR,Chen D,Abraham SM,Adams DR,Simon KL,Malicdan MC,Markello TC,Gunay-Aygun M,Gahl WA

    更新日期：2017-03-01 00:00:00

  • Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2007.09.021

    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

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

    abstract：BACKGROUND:Oxidative stress is involved in the pathophysiology of renal and cardiovascular complications of diabetes. Superoxide dismutase (SOD) enzymes play a major role in detoxification of reactive oxygen species and protection against oxidative stress. Associations of SOD1 gene variants with diabetic nephropathy we...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.04.023

    authors： Neves AL,Mohammedi K,Emery N,Roussel R,Fumeron F,Marre M,Velho G

    更新日期：2012-07-01 00:00:00

  • Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells.

    abstract：:Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder resulting from the deficient activity of the heme biosynthetic enzyme uroporphyrinogen III synthase (UROS). Severely affected patients are transfusion dependent and have mutilating cutaneous manifestations. Successful bone marrow transplantat...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1998.2739

    authors： Kauppinen R,Glass IA,Aizencang G,Astrin KH,Atweh GF,Desnick RJ

    更新日期：1998-09-01 00:00:00

  • A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2010.06.016

    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

  • Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death.

    abstract：:Left ventricular noncompaction (LVNC) is a cardiomyopathy morphologically characterized by 2-layered myocardium, numerous prominent trabeculations, and deep intertrabecular recesses communicating with the left ventricular cavity. The purpose of this study was to investigate patients with LVNC for possible disease caus...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2010.09.009

    authors： Chang B,Nishizawa T,Furutani M,Fujiki A,Tani M,Kawaguchi M,Ibuki K,Hirono K,Taneichi H,Uese K,Onuma Y,Bowles NE,Ichida F,Inoue H,Matsuoka R,Miyawaki T,Noncompaction study collaborators.

    更新日期：2011-02-01 00:00:00

  • Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes.

    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

    pub_type： 临床试验,杂志文章

    doi：10.1016/j.ymgme.2014.02.007

    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

  • A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2006.02.014

    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

  • Genetic and epigenetic regulation schemes: need for an alternative paradigm.

    abstract：:Self-organization of living cells results from the tangle of positive and negative feedback developed to ensure their homeostasis and/or their differentiation. There are three major means cellular regulation operates: the genetic, the epigenetic, and the metabolic ones. The regulation type in each of them has been ove...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1006/mgme.2000.3048

    authors： Roux-Rouquie M

    更新日期：2000-09-01 00:00:00

  • Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients.

    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

    pub_type： 杂志文章

    doi：10.1006/mgme.2001.3156

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

    更新日期：2001-04-01 00:00:00

  • Psychosine, a marker of Krabbe phenotype and treatment effect.

    abstract：:Newborn screening (NBS) for Krabbe disease, a rare neurodegenerative disorder caused by deficient galactocerebrosidase (GALC) enzyme activity, has recently been implemented in a number of US states. However, the spectrum of phenotypic manifestations associated with deficient GALC activity complicates the management of...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2017.05.015

    authors： Escolar ML,Kiely BT,Shawgo E,Hong X,Gelb MH,Orsini JJ,Matern D,Poe MD

    更新日期：2017-07-01 00:00:00

  • Expression of Mmachc and Mmadhc during mouse organogenesis.

    abstract：:To examine whether Mmachc and Mmadhc, two genes involved in vitamin B(12) (cobalamin) metabolism, show tissue-specific expression during mouse embryogenesis, we determined their sites of expression at 11.5days post conception by in situ hybridization. There was ubiquitous expression of Mmadhc, but tissue and cell type...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.04.004

    authors： Pupavac M,Garcia MA,Rosenblatt DS,Jerome-Majewska LA

    更新日期：2011-08-01 00:00:00

  • Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.

    abstract：:Congenital disorders of glycosylation (CDG) are caused by enzymatic defects of the formation or processing of lipid-linked oligosaccharides and glycoproteins. Since the majority of proteins is glycosylated, a defect in a singular CDG enzyme leads to a multisytemic disease with secondary malfunction of thousands of pro...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.01.001

    authors： Würde AE,Reunert J,Rust S,Hertzberg C,Haverkämper S,Nürnberg G,Nürnberg P,Lehle L,Rossi R,Marquardt T

    更新日期：2012-04-01 00:00:00

  • Slc19a2: cloning and characterization of the murine thiamin transporter cDNA and genomic sequence, the orthologue of the human TRMA gene.

    abstract：:Recently, our group and others cloned the TRMA disease gene, SLC19A2, which encodes a thiamin transporter. Here, we report the cloning and characterization of the full-length cDNA and genomic sequences of mouse Slc19a2. The Slc19a2 cDNA contained a 1494-bp open-reading frame, and had 5'- and 3'-untranslated regions of...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2001.3184

    authors： Oishi K,Hirai T,Gelb BD,Diaz GA

    更新日期：2001-06-01 00:00:00