当前位置： SCI文献检索 > MOLECULAR GENETICS AND METABOLISM期刊下所有文献 > Molecular genetics of HMG-CoA lyase deficiency.

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 mutations in the HL gene (HMGCL). To date, up to 30 variant alleles (28 mutations and 2 SNPs) in 93 patients have been reported, with a recognizable population-specific mutational spectrum. This disorder is frequent in Saudi Arabia and the Iberian Peninsula (Portugal and Spain), where two mutations (122G>A and 109G>A) have been identified in 87% and 94% of the cases, respectively. In most countries a few patients have a high level of allelic heterogeneity. The mutations are distributed along the gene sequences, although some clustering was observed in exon 2, conforming a possible hot spot. Recently, the crystal structures of the human and two bacterial HL have been published. These experimentally obtained structures confirmed the overall architecture, previously predicted by our group and others using bioinformatic approaches, which shows the (betaalpha)8-barrel structure of the enzyme. In addition, the crystals confirmed the presence of an additional COOH domain containing important structures and residues for enzyme functionality and oligomerization processes. Here, we review all HMGCL mis-sense mutations identified to date, and their implication in enzyme structure and function is discussed. We found that genotype-phenotype correlations are difficult to establish because the evolution of the disease seems more related to the causes of hypoglycaemia (fasting or acute illness) than to a particular genotype.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Pié J,López-Viñas E,Puisac B,Menao S,Pié A,Casale C,Ramos FJ,Hegardt FG,Gómez-Puertas P,Casals N

doi

10.1016/j.ymgme.2007.06.020

subject

Has Abstract

pub_date

2007-11-01 00:00:00

pages

198-209

issue

3

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(07)00237-5

journal_volume

92

pub_type

杂志文章,评审

相关文献

MOLECULAR GENETICS AND METABOLISM文献大全
  • Nutrition in phenylketonuria.

    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

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2011.08.023

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

    更新日期：2011-01-01 00:00:00

  • Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2008.05.003

    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

  • 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

  • Thoroughly modern medicine.

    abstract：:Personalized medicine is receiving increasing attention in the medical literature and lay press as one way to optimize therapy and reduce complications of treatment for almost any disorder. However, understanding the systemic complexities necessary to implement the ambitious goals of personalized medicine is unlikely ...

    journal_title：Molecular genetics and metabolism

    pub_type：

    doi：10.1016/j.ymgme.2011.07.011

    authors： Arnold GL,Vockley J

    更新日期：2011-09-01 00:00:00

  • l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2010.06.021

    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

  • CYP gene polymorphisms and early menarche.

    abstract：:Early age at menarche is a risk factor for breast cancer. A previous study reported a significant positive association between the CYP3A4*1B variant allele and early puberty. We investigated whether polymorphisms of the CYP3A4, CYP17, CYP1B1, and CYP1A2 genes predict the age at onset of menarche. Five hundred eighty-t...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2001.3260

    authors： Lai J,Vesprini D,Chu W,Jernström H,Narod SA

    更新日期：2001-12-01 00:00:00

  • BRCA1 suppresses insulin-like growth factor-I receptor promoter activity: potential interaction between BRCA1 and Sp1.

    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

    pub_type： 杂志文章

    doi：10.1006/mgme.1999.2958

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

    更新日期：2000-02-01 00:00:00

  • Immune response to enzyme replacement therapy: single epitope control of antigen distribution from circulation.

    abstract：:Immune response to replacement therapy has been reported for a range of therapeutic strategies being developed for the treatment of patients with genetic disease. The potential problem of immune response to enzyme replacement therapy has been investigated in alpha-L-iduronidase immunized rats, representing a model of ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/s1096-7192(02)00148-8

    authors： Glaros EN,Turner CT,Parkinson EJ,Hopwood JJ,Brooks DA

    更新日期：2002-09-01 00:00:00

  • Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.

    abstract：:2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency, also known as beta-ketothiolase deficiency, is an inborn error of ketone body utilization and isoleucine catabolism. It is caused by mutations in the ACAT1 gene and may present with metabolic ketoacidosis. In order to obtain a more comprehensive view on this di...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2017.06.012

    authors： Grünert SC,Schmitt RN,Schlatter SM,Gemperle-Britschgi C,Balcı MC,Berg V,Çoker M,Das AM,Demirkol M,Derks TGJ,Gökçay G,Uçar SK,Konstantopoulou V,Christoph Korenke G,Lotz-Havla AS,Schlune A,Staufner C,Tran C,Visser G,S

    更新日期：2017-09-01 00:00:00

  • Molecular screening of the human glutamine-fructose-6-phosphate amidotransferase 1 (GFPT1) gene and association studies with diabetes and diabetic nephropathy.

    abstract：:Increased glucose metabolism through the hexosamine pathway may result in insulin resistance, impaired insulin secretion, and diabetic nephropathy. We hypothesized that variants of GFPT1 encoding glutamine-fructose-6-phosphate amidotransferase, the rate limiting enzyme in this pathway, could increase GFPT1 gene expres...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2004.05.004

    authors： Elbein SC,Zheng H,Jia Y,Chu W,Cooper JJ,Hale T,Zhang Z

    更新日期：2004-08-01 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

  • Phenylalanine ammonia lyase, enzyme substitution therapy for phenylketonuria, where are we now?

    abstract：:Phenylketonuria (PKU) is an autosomal recessive genetic disorder in which mutations in the phenylalanine-4-hydroxylase (PAH) gene result in an inactive enzyme (PAH, EC 1.14.16.1). The effect is an inability to metabolize phenylalanine (Phe), translating into elevated levels of Phe in the bloodstream (hyperphenylalanin...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2005.06.016

    authors： Sarkissian CN,Gámez A

    更新日期：2005-12-01 00:00:00

  • Regulation of erythropoietin gene expression depends on two different oxygen-sensing mechanisms.

    abstract：:Erythropoietin (Epo), a glycoprotein hormone produced principally in the fetal kidney and in the adult liver in response to hypoxia, is the prime regulator of growth and differentiation in erythroid progenitor cells. The regulation of Epo gene expression is not fully understood, but two mechanisms have been proposed. ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1999.2851

    authors： Daghman NA,McHale CM,Savage GM,Price S,Winter PC,Maxwell AP,Lappin TR

    更新日期：1999-06-01 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

  • Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: insight into mucopolysaccharidosis type VI.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2007.11.017

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

    更新日期：2008-04-01 00:00:00

  • Identification and characterization of the human and mouse SLC19A3 gene: a novel member of the reduced folate family of micronutrient transporter genes.

    abstract：:We report here the isolation, characterization, and chromosomal localization of the genes encoding the human and corresponding murine orthologue of solute carrier family 19A member 3 (SLC19A3). Human SLC19A3 encodes a 496-amino-acid residue protein with a predicted molecular weight of 56 kDa that shares sequence simil...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2000.3112

    authors： Eudy JD,Spiegelstein O,Barber RC,Wlodarczyk BJ,Talbot J,Finnell RH

    更新日期：2000-12-01 00:00:00

  • Late diagnosis of maternal PKU in a family segregating an arylsulfatase [corrected] E mutation causing symmetrical chondrodysplasia punctata.

    abstract：:Mutations in the arylsulfatase E gene, located on the X chromosome, have been shown to cause chondrodysplasia punctata (CDP). A substitution of arginine with serine at amino acid 12 (R12S) was identified in a patient with typical features of mild symmetrical CDP including mild mental retardation. The proband was insti...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1999.2935

    authors： Dahl HH,Osborn AH,Hutchison WM,Thorburn DR,Sheffield LJ

    更新日期：1999-12-01 00:00:00

  • Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2008.03.001

    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

  • Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome.

    abstract：:We have isolated a few cDNAs from different human tissues, transcribed from the first intron of HIRA, a gene deleted in the DiGeorge syndrome. These cDNAs are produced by an intronic gene (22k48) which is transcribed by the HIRA opposite strand and is itself arranged in exons and subjected to alternative splicing. The...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1999.2868

    authors： Pizzuti A,Novelli G,Ratti A,Amati F,Bordoni R,Mandich P,Bellone E,Conti E,Bengala M,Mari A,Silani V,Dallapiccola B

    更新日期：1999-07-01 00:00:00

  • 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

  • Experience, knowledge, and opinions about childhood genetic testing in Batten disease.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2013.10.017

    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

  • Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.

    abstract：PURPOSE:Hemophilia B, an X-linked disease, manifests with recurrent soft tissue bleeding episodes. Hermansky-Pudlak syndrome, a rare autosomal recessive disorder, is characterized by oculocutaneous albinism and an increased tendency to bleed due to a platelet storage pool defect. We report a novel mutation in HPS6 in a...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2016.08.009

    authors： O'Brien KJ,Lozier J,Cullinane AR,Osorio B,Nghiem K,Speransky V,Zein WM,Mullikin JC,Neff AT,Simon KL,Malicdan MC,Gahl WA,Young LR,Gochuico BR

    更新日期：2016-11-01 00:00:00

  • Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.

    abstract：:Mucopolysaccharidosis type II (MPS II: also called as Hunter syndrome) is an X-linked recessive lysosomal storage disorder characterized by the accumulation of extracellular glycosaminoglycans due to the deficiency of the enzyme iduronate-2-sulfatase (IDS). Previous observations suggested that MPS II can be classified...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2016.05.003

    authors： Kosuga M,Mashima R,Hirakiyama A,Fuji N,Kumagai T,Seo JH,Nikaido M,Saito S,Ohno K,Sakuraba H,Okuyama T

    更新日期：2016-07-01 00:00:00

  • Use of TaqI digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

    abstract：:Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. For reliable and accurate mutation detection in the CYP21 gene it is important to separate the CYP21 gene from the highly homologous CYP21P pseudogene. For this, several di...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2000.3023

    authors： Lee HH,de Wijs IJ,Sistermans EA

    更新日期：2000-08-01 00:00:00

  • The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons.

    abstract：:The bicistronic MOCS1 gene encodes two enzymatic activities that are necessary for the biosynthesis of the molybdenum cofactor (MoCo). Mutations in either of the two consecutive open reading frames are responsible for the majority of MoCo deficiency cases and result in a complementation group A phenotype. Two cDNA seq...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/s1096-7192(02)00100-2

    authors： Gross-Hardt S,Reiss J

    更新日期：2002-08-01 00:00:00

  • Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.

    abstract：:Niemann-Pick disease (NPD) is a neurovisceral lysosomal storage disorder caused by acid sphingomyelinase (ASM) deficiency, which can be categorized as either Niemann-Pick disease type A [NPD-A], with progressive neurological disease and death in early childhood, or as Niemann-Pick disease type B [NPD-B], with a more v...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.06.015

    authors： Hollak CE,de Sonnaville ES,Cassiman D,Linthorst GE,Groener JE,Morava E,Wevers RA,Mannens M,Aerts JM,Meersseman W,Akkerman E,Niezen-Koning KE,Mulder MF,Visser G,Wijburg FA,Lefeber D,Poorthuis BJ

    更新日期：2012-11-01 00:00:00

  • Cerebral folate deficiency: life-changing supplementation with folinic acid.

    abstract：:Cerebral folate deficiency is characterized by low cerebrospinal fluid (CSF) concentrations of 5-methyltetrahydrofolate and a broad spectrum of clinical signs and symptoms. A patient with progressive spasticity, gait disturbance, speech difficulties, initially diagnosed as a recessive spastic paraplegia recovered on f...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2004.12.001

    authors： Hansen FJ,Blau N

    更新日期：2005-04-01 00:00:00

  • Improvement in behaviour after substrate deprivation therapy with rhodamine B in a mouse model of MPS IIIA.

    abstract：:Mucopolysaccharidosis type IIIA (MPS IIIA) is a specific lysosomal storage disorder caused by an enzyme deficiency in sulphamidase, which is required for the degradation of heparan sulphate glycosaminoglycan (gag). This deficiency results in widespread gag storage and leads to severe CNS degeneration and mild somatic ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2007.06.016

    authors： Roberts AL,Rees MH,Klebe S,Fletcher JM,Byers S

    更新日期：2007-09-01 00:00:00

  • Bacterial species identification after DNA amplification with a universal primer pair.

    abstract：:The diagnosis of bacterial infections can be difficult and time consuming. Rapid and reliable molecular triage of potentially infected patients, particularly the young and the elderly, would prevent unnecessary hospitalizations, reduce associated medical costs, and improve the quality of care. Polymerase chain reactio...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1998.2795

    authors： McCabe KM,Zhang YH,Huang BL,Wagar EA,McCabe ER

    更新日期：1999-03-01 00:00:00

  • Essential role of citrate export from mitochondria at early differentiation stage of 3T3-L1 cells for their effective differentiation into fat cells, as revealed by studies using specific inhibitors of mitochondrial di- and tricarboxylate carriers.

    abstract：:1,2,3-Benzenetricarboxylate (BTA) and n-butylmalonate (BM), specific inhibitors of the mitochondrial tricarboxylate and dicarboxylate carrier, respectively, have been used to study the contribution of citrate export from mitochondria to the accumulation of fat in 3T3-L1 cells. Continuous treatment of the cells with BT...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2005.01.006

    authors： Kajimoto K,Terada H,Baba Y,Shinohara Y

    更新日期：2005-05-01 00:00:00