当前位置： SCI文献检索 > MOLECULAR GENETICS AND METABOLISM期刊下所有文献 > Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT).

Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT).

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). We identified the human gene (AADAT) encoding for AADAT. It has a 2329 bp cDNA, a 1278 bp open-reading frame, and is predicted to encode 425 amino acids with a mitochondrial cleavage signal and a pyridoxal-phosphate binding site. AADAT is 73% and 72% identical to the mouse and rat orthologs, respectively. The genomic structure spans 30 kb and consists of 13 exons. FISH studies localized the gene to 4q32.2. Two transcripts (approximately 2.9 and approximately 4.7 kb) were identified, with expression highest in liver. Bacterial expression studies confirm that the gene encodes for AADAT activity. The availability of the DNA sequence and enzyme assay will allow further evaluation of individuals suspected to have defects in this enzyme.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

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

doi

10.1016/s1096-7192(02)00037-9

subject

Has Abstract

pub_date

2002-07-01 00:00:00

pages

172-80

issue

3

eissn

1096-7192

issn

1096-7206

pii

S1096719202000379

journal_volume

76

pub_type

杂志文章

相关文献

MOLECULAR GENETICS AND METABOLISM文献大全
  • Minimally invasive (13)C-breath test to examine phenylalanine metabolism in children with phenylketonuria.

    abstract：BACKGROUND:Phenylketonuria (PKU) is an autosomal recessive disorder caused by deficiency of hepatic phenylalanine hydroxylase (PAH) leading to increased levels of phenylalanine in the plasma. Phenylalanine levels and phenylalanine hydroxylase (PAH) activity monitoring are currently limited to conventional blood dot tes...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2015.04.005

    authors： Turki A,Murthy G,Ueda K,Cheng B,Giezen A,Stockler-Ipsiroglu S,Elango R

    更新日期：2015-06-01 00:00:00

  • Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2006.12.010

    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

  • Toll-like receptor mediated lysozyme expression in Niemann-pick disease, type C1.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2020.10.009

    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

  • Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability.

    abstract：:Glycogen storage disease type Ia (GSD-Ia) is caused by deleterious mutations in the glucose-6-phosphatase gene (G6PC). A molecular study of this gene was carried out in 11 Argentinean patients from 8 unrelated families. Four missense (p.Gln54Pro, p.Arg83Cys, p.Thr16Arg, and p.Tyr209Cys) and one deletion (c.79delC) mut...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2004.06.010

    authors： Angaroni CJ,de Kremer RD,Argaraña CE,Paschini-Capra AE,Giner-Ayala AN,Pezza RJ,Pan CJ,Chou JY

    更新日期：2004-11-01 00:00:00

  • The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia.

    abstract：:Glycogen storage disease type-Ia (GSD-Ia) patients deficient in glucose-6-phosphatase-α (G6Pase-α or G6PC) manifest impaired glucose homeostasis characterized by fasting hypoglycemia, growth retardation, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia. Two efficacious recombinant adeno-a...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2013.06.014

    authors： Lee YM,Pan CJ,Koeberl DD,Mansfield BC,Chou JY

    更新日期：2013-11-01 00:00:00

  • Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: implications for the diagnosis and follow-up of serine biosynthesis disorders.

    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

    pub_type： 杂志文章,多中心研究

    doi：10.1016/j.ymgme.2010.07.006

    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

  • 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 combined liver/kidney transplantation from a donor with Pompe disease.

    abstract：:Pompe disease results from inherited deficiency of the enzyme acid alpha-glucosidase resulting in lysosomal accumulation of glycogen primarily in skeletal muscle. Reported is the first case in which a donor with late onset Pompe disease (LOPD) was successfully used for deceased donor liver and kidney transplantation. ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2015.05.007

    authors： Halldorson J,Kazi Z,Mekeel K,Kuo A,Hassanein T,Loomba R,Austin S,Valasek MA,Kishnani P,Hemming AW

    更新日期：2015-08-01 00:00:00

  • Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2008.05.005

    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

  • Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing.

    abstract：:The identification of disease causing mutation in patients with neurodegenerative disorders originating from small, non-consanguineous families is challenging. Three siblings were found to have ventriculomegaly at early gestation; postnatally, there was no acquisition of developmental milestones, and the muscles of th...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.09.020

    authors： Berger I,Ben-Neriah Z,Dor-Wolman T,Shaag A,Saada A,Zenvirt S,Raas-Rothschild A,Nadjari M,Kaestner KH,Elpeleg O

    更新日期：2011-12-01 00:00:00

  • Next-generation sequencing of the monogenic obesity genes LEP, LEPR, MC4R, PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity and normal weight controls.

    abstract：BACKGROUND:Rare sequence variants in at least five genes are known to cause monogenic obesity. In this study we aimed to investigate the prevalence of, and characterize, rare coding and splice site variants in LEP, LEPR, MC4R, PCSK1 and POMC in patients with morbid obesity and normal weight controls. METHOD:Targeted n...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2017.03.007

    authors： Nordang GBN,Busk ØL,Tveten K,Hanevik HI,Fell AKM,Hjelmesæth J,Holla ØL,Hertel JK

    更新日期：2017-05-01 00:00:00

  • Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2006.08.003

    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

  • 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

  • Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.

    abstract：:Porphyria cutanea tarda (PCT) is caused by decreased activity of uroporphyrinogen decarboxylase (UROD) in the liver. The disease usually occurs in adulthood and is characterized by cutaneous photosensitivity, hyperpigmentation, skin fragility and hypertrichosis, due to the accumulation of porphyrins produced by oxidat...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.02.002

    authors： Méndez M,Rossetti MV,Gómez-Abecia S,Morán-Jiménez MJ,Parera V,Batlle A,Enríquez de Salamanca R

    更新日期：2012-04-01 00:00:00

  • Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2009.07.015

    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

  • Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature.

    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

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2012.08.003

    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

  • The effects of sapropterin on urinary monoamine metabolites in phenylketonuria.

    abstract：BACKGROUND:Sapropterin dihydrochloride (BH4, tetrahydrobiopterin) can lower plasma phenylalanine (Phe) concentrations for a subset of patients with phenylketonuria (PKU), an inborn error of metabolism. Studies suggest that monoamine neurotransmitter concentrations are low in PKU patients. Sapropterin functions as a cof...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2013.04.017

    authors： Douglas TD,Jinnah HA,Bernhard D,Singh RH

    更新日期：2013-07-01 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

  • Human liver-specific very-long-chain acyl-coenzyme A synthetase: cDNA cloning and characterization of a second enzymatically active protein.

    abstract：:Activation of fatty acids, catalyzed by acyl-coenzyme A (acyl-CoA) synthetases, is required for their subsequent metabolism. Peroxisomes and microsomes contain very-long-chain acyl-CoA synthetases (VLCSs) capable of activating fatty acids with a chain length of 22 or more carbons. Decreased peroxisomal VLCS activity i...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1999.2883

    authors： Steinberg SJ,Wang SJ,McGuinness MC,Watkins PA

    更新日期：1999-09-01 00:00:00

  • Progress in neuropathology of the neuronal ceroid lipofuscinoses.

    abstract：:Since the last, 6th, International Congress on Neuronal Ceroid-Lipofuscinoses, neuropathological advances in neuronal ceroid lipofuscinoses (NCL) have been made in several areas: (1) In adult NCL (ANCL) lipopigments have now been repeatedly confirmed to contain subunit c of mitochondrial ATP synthase and even sphingol...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1006/mgme.1999.2808

    authors： Goebel HH,Schochet SS,Jaynes M,Brück W,Kohlschütter A,Hentati F

    更新日期：1999-04-01 00:00:00

  • Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses.

    abstract：BACKGROUND:In phenylketonuria presymptomatic treatment following newborn screening prevents severe mental and physical impairment. The reasons for subtle impairments of cerebral functions despite early treatment remain unclear. We assessed a broad spectrum of visual functions in early-treated patients with phenylketonu...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.10.021

    authors： Gramer G,Förl B,Springer C,Weimer P,Haege G,Mackensen F,Müller E,Völcker HE,Hoffmann GF,Lindner M,Krastel H,Burgard P

    更新日期：2013-01-01 00:00:00

  • Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model.

    abstract：:Mucopolysaccharidosis (MPS) type VII is a lysosomal storage disease caused by deficiency of the lysosomal enzyme β-glucuronidase (GUS), leading to accumulation of glycosaminoglycans (GAGs). Enzyme replacement therapy (ERT) effectively clears GAG storage in the viscera. Recent studies showed that a chemically modified ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.07.002

    authors： Rowan DJ,Tomatsu S,Grubb JH,Haupt B,Montaño AM,Oikawa H,Sosa AC,Chen A,Sly WS

    更新日期：2012-09-01 00:00:00

  • The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2008.04.004

    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

  • Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population.

    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

    pub_type： 杂志文章

    doi：10.1006/mgme.1998.2733

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

    更新日期：1998-08-01 00:00:00

  • Activity of daily living for Morquio A syndrome.

    abstract：:The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index. The ADL questionnaire comprises three do...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2016.04.005

    authors： Yasuda E,Suzuki Y,Shimada T,Sawamoto K,Mackenzie WG,Theroux MC,Pizarro C,Xie L,Miller F,Rahman T,Kecskemethy HH,Nagao K,Morlet T,Shaffer TH,Chinen Y,Yabe H,Tanaka A,Shintaku H,Orii KE,Orii KO,Mason RW,Montaño AM

    更新日期：2016-06-01 00:00:00

  • Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias.

    abstract：:Recently, new genes and molecular mechanisms have been identified in patients with porphyrias and sideroblastic anemias (SA). They all modulate either directly or indirectly the δ-aminolevulinic acid synthase (ALAS) activity. ALAS, is encoded by two genes: the erythroid-specific (ALAS2), and the ubiquitously expressed...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2019.01.015

    authors： Peoc'h K,Nicolas G,Schmitt C,Mirmiran A,Daher R,Lefebvre T,Gouya L,Karim Z,Puy H

    更新日期：2019-11-01 00:00:00

  • The redox status of cystinotic fibroblasts.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2009.12.010

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

    更新日期：2010-04-01 00:00:00

  • Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

    abstract：:Hypophosphatasia (HPP) is a rare inherited skeletal dysplasia due to loss of function mutations in the ALPL gene. The disease is subject to an extremely high clinical heterogeneity ranging from a perinatal lethal form to odontohypophosphatasia affecting only teeth. Up to now genetic diagnosis of HPP is performed by se...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2015.09.010

    authors： Taillandier A,Domingues C,De Cazanove C,Porquet-Bordes V,Monnot S,Kiffer-Moreira T,Rothenbuhler A,Guggenbuhl P,Cormier C,Baujat G,Debiais F,Capri Y,Cohen-Solal M,Parent P,Chiesa J,Dieux A,Petit F,Roume J,Isnard M,Co

    更新日期：2015-11-01 00:00:00

  • Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA).

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2007.02.006

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

    更新日期：2007-06-01 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