当前位置： SCI文献检索 > MOLECULAR GENETICS AND METABOLISM期刊下所有文献 > Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: insight into mucopolysaccharidosis type VI.

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 structure by calculating the number of atoms affected. Then, we calculated the average of solvent-accessible surface area value of the residues for which a substitution was identified in the severe MPS VI group and compared it with that in the attenuated MPS VI group. In the severe MPS VI group, the number of atoms influenced by a mutation was generally larger than that in the attenuated MPS VI group in both the main chain and the side chain, and residues associated with the mutations found in the severe MPS VI group tended to be less solvent-accessible than those in the attenuated MPS VI group. Furthermore, we analyzed the structural changes in 4S caused by six amino acid substitutions, for which the expressed proteins have been characterized, by means of color imaging. The results revealed that R95Q, G144R, H393P, and C521Y cause large structural changes, and that they are associated with the severe phenotype. On the other hand, G137V and Y210C are thought to cause small structural changes in a limited region resulting in the attenuated phenotype. Structural study is useful for elucidating the basis of MPS VI and predicting the influence of amino acid substitutions on clinical outcome, although there are a couple of exceptional cases.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Saito S,Ohno K,Sugawara K,Sakuraba H

doi

10.1016/j.ymgme.2007.11.017

subject

Has Abstract

pub_date

2008-04-01 00:00:00

pages

419-25

issue

4

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(07)00612-9

journal_volume

93

pub_type

杂志文章

相关文献

MOLECULAR GENETICS AND METABOLISM文献大全
  • Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant.

    abstract：:Gaucher disease is a prevalent lysosomal storage disease in which affected individuals inherit mutations in the gene (GBA1) encoding lysosomal acid β-glucosidase (glucocerebrosidase, GCase, EC 3.2.1.45). One of the most prevalent disease-causing mutations in humans is a N370S missense mutation in the GCase protein. As...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.04.018

    authors： Babajani G,Tropak MB,Mahuran DJ,Kermode AR

    更新日期：2012-07-01 00:00:00

  • A combined therapeutic approach for pyruvate dehydrogenase deficiency using self-complementary adeno-associated virus serotype-specific vectors and dichloroacetate.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2007.10.131

    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

  • Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2018.11.008

    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

  • Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.

    abstract：:Pompe disease is a rare, autosomal recessive disorder characterized by deficiency of lysosomal acid alpha-glucosidase and accumulation of lysosomal glycogen in many tissues. The variable clinical manifestations, broad phenotypic spectrum, and overlap of signs and symptoms with other neuromuscular diseases make diagnos...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2014.07.014

    authors： Kishnani PS,Amartino HM,Lindberg C,Miller TM,Wilson A,Keutzer J

    更新日期：2014-09-01 00:00:00

  • Lysosomal integral membrane protein-2: a new player in lysosome-related pathology.

    abstract：:Lysosomes require the presence of many specialized proteins to facilitate their roles in cellular maintenance. One such protein that has proven to be an important player in the lysosomal field is lysosomal integral membrane protein-2 (LIMP-2), encoded by the gene SCARB2. LIMP-2 is required for the normal biogenesis an...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2013.12.005

    authors： Gonzalez A,Valeiras M,Sidransky E,Tayebi N

    更新日期：2014-02-01 00:00:00

  • Dysregulated DNA methylation of GLA gene was associated with dysfunction of autophagy.

    abstract：:Lysosomes are an essential organ for cellular metabolism and play an important role in autophagy. We examined the association between methylation and autophagy in a severely affected female patient with Fabry disease, which is caused by mutation of the GLA gene on the X chromosome, and her two sisters, who had few sym...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2019.03.003

    authors： Yanagisawa H,Hossain MA,Miyajima T,Nagao K,Miyashita T,Eto Y

    更新日期：2019-04-01 00:00:00

  • Mitogen-activated protein kinase phosphatase-1 deficiency decreases atherosclerosis in apolipoprotein E null mice by reducing monocyte chemoattractant protein-1 levels.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2010.05.009

    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

  • Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency.

    abstract：:The only known Japanese child with biotinidase deficiency was identified by newborn screening in Japan. He has 10.8% of mean normal serum biotinyl-hydrolase activity and trace biotinyl-transferase activity. The mutation results in 16% of normal cross-reacting material in serum with antibody to purified normal biotinid...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1998.2706

    authors： Pomponio RJ,Yamaguchi A,Arashima S,Hymes J,Wolf B

    更新日期：1998-06-01 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

  • Neurological and brain MRS findings in patients with Gaucher disease type 1.

    abstract：:Gaucher disease type 1 (GD1) is an autosomal recessive lysosomal storage disorder, characterised by accumulation of glycosphingolipids in visceral organs. Although considered non-neuronopathic neurological involvement has been reported in single cases. The aim of our study was to investigate central and peripheral ner...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2007.03.009

    authors： Mercimek-Mahmutoglu S,Gruber S,Rolfs A,Stadlbauer A,Woeber C,Kurnik P,Voigtlaender T,Moser E,Stoeckler-Ipsiroglu S

    更新日期：2007-08-01 00:00:00

  • Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy.

    abstract：:A six-day-old girl was referred for severe hepatic failure, dehydratation, axial hypotonia, and both lactic acidosis and ketoacidosis. Biotin-unresponsive pyruvate carboxylase deficiency type B was diagnosed. Triheptanoin, an odd-carbon triglyceride, was administrated as a source for acetyl-CoA and anaplerotic propion...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2004.09.007

    authors： Mochel F,DeLonlay P,Touati G,Brunengraber H,Kinman RP,Rabier D,Roe CR,Saudubray JM

    更新日期：2005-04-01 00:00:00

  • Exome sequencing identifies a new candidate mutation for susceptibility to diabetes in a family with highly aggregated type 2 diabetes.

    abstract：:The aim of this study was to investigate the genetic background of familial clustering of diabetes using genome-wide linkage analysis combined with exome sequencing. We recruited a Japanese family with a 3-generation history of diabetes. The family comprised 16 members, 13 having been diagnosed with diabetes. Nine mem...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2013.02.010

    authors： Tanaka D,Nagashima K,Sasaki M,Funakoshi S,Kondo Y,Yasuda K,Koizumi A,Inagaki N

    更新日期：2013-05-01 00:00:00

  • C-fos mediates cocaine inhibition of NGF-induced PC12 cell differentiation.

    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

    pub_type： 杂志文章

    doi：10.1006/mgme.1998.2699

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

    更新日期：1998-05-01 00:00:00

  • Correlating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1 (GD1) patients.

    abstract：:Gaucher disease (GD) is an autosomal-recessive lysosomal storage disease caused by a deficiency of the enzyme, glucocerebrocidase, resulting in accumulation of lipid-laden storage cells in multiple organs such as bone marrow, liver, spleen, and lungs. Type 1 Gaucher disease is the most common form of this condition in...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2017.10.013

    authors： Serai SD,Naidu AP,Andrew Burrow T,Prada CE,Xanthakos S,Towbin AJ

    更新日期：2018-03-01 00:00:00

  • Structure of the PCCA gene and distribution of mutations causing propionic acidemia.

    abstract：:Propionyl-CoA carboxylase (PCC, EC 6.4.1.3) is a mitochondrial, biotin-dependent enzyme that functions in the catabolism of branched-chain amino acids, fatty acids with odd-numbered chain lengths, and other metabolites. It catalyzes the ATP-dependent carboxylation of propionyl-CoA to d-methylmalonyl-CoA. PCC is compos...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2001.3210

    authors： Campeau E,Desviat LR,Leclerc D,Wu X,Pérez B,Ugarte M,Gravel RA

    更新日期：2001-09-01 00:00:00

  • Carotid intima-media thickness is increased in patients with mucopolysaccharidoses.

    abstract：BACKGROUND:The feasibility of carotid artery intima-media thickness (C-IMT), an established cardiovascular disease marker, as a cardiac risk marker in mucopolysaccharidosis (MPS) patients was explored. OBJECTIVES:To determine if C-IMT is abnormal in MPS versus unaffected controls, and if C-IMT correlates with coronary...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.09.004

    authors： Wang RY,Covault KK,Halcrow EM,Gardner AJ,Cao X,Newcomb RL,Dauben RD,Chang AC

    更新日期：2011-12-01 00:00:00

  • A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.

    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

    pub_type： 共识发展会议,杂志文章,实务指引

    doi：10.1016/j.ymgme.2007.11.002

    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

  • The metabolism of glucocerebrosides - From 1965 to the present.

    abstract：:Gaucher disease is caused by the defective catabolism of the simple glycosphingolipid, glucosylceramide (GlcCer), due to mutations in the GBA1 gene which encodes for acid β-glucosidase (GCase), the lysosomal enzyme that degrades GlcCer. Today, Gaucher disease patients are routinely treated with recombinant GCase, in a...

    journal_title：Molecular genetics and metabolism

    pub_type： 传,历史文章,杂志文章,评审

    doi：10.1016/j.ymgme.2016.11.390

    authors： Futerman AH,Platt FM

    更新日期：2017-01-01 00:00:00

  • Polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defects.

    abstract：:Methionine synthase and methylmalonyl-CoA mutase (mutase) are the only two known vitamin B(12) (B(12)) dependent enzymes in humans. A lower level of B(12) has been shown to be an independent maternal risk factor for neural tube defects (NTDs) prompting an investigation of common genetic variants within B(12) dependent...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2003.09.009

    authors： Parle-McDermott A,McManus EJ,Mills JL,O'Leary VB,Pangilinan F,Cox C,Weiler A,Molloy AM,Conley M,Watson D,Scott JM,Brody LC,Kirke PN,Birth Defects Research Group.

    更新日期：2003-12-01 00:00:00

  • Investigation of folate pathway gene polymorphisms and the incidence of neural tube defects in a Texas hispanic population.

    abstract：:Neural tube defects (NTDs) are multifactorial in their etiology, having both genetic and environmental factors contributing to their development. Recent evidence demonstrates that periconceptional supplementation of the maternal diet with a multivitamin containing folic acid significantly reduces the occurrence and re...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2000.2991

    authors： Barber R,Shalat S,Hendricks K,Joggerst B,Larsen R,Suarez L,Finnell R

    更新日期：2000-05-01 00:00:00

  • Increased superoxide accumulation in pyruvate dehydrogenase complex deficient fibroblasts.

    abstract：:The pyruvate dehydrogenase complex (PDC) oxidizes pyruvate to acetyl CoA and is critically important in maintaining normal cellular energy homeostasis. Loss-of-function mutations in PDC give rise to congenital lactic acidosis and to progressive cellular energy failure. However, the subsequent biochemical consequences ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.07.023

    authors： Glushakova LG,Judge S,Cruz A,Pourang D,Mathews CE,Stacpoole PW

    更新日期：2011-11-01 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

  • Epilepsy in mucopolysaccharidosis disorders.

    abstract：:The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes involved in the catabolism of glycosaminoglycans (GAGs). The resulting GAG accumulation in cells and tissues throughout the body leads to progressive multi-organ dysfunction. MPS patients present with several somatic man...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2017.10.006

    authors： Scarpa M,Lourenço CM,Amartino H

    更新日期：2017-12-01 00:00:00

  • Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia.

    abstract：:Mucopolysaccharidosis VI (MPS VI) is a rare autosomal recessive disorder caused by a deficiency of N-acetylgalactosamine-4-sulfatase (ARSB). Over 130 ARSB gene mutations have been identified thus far and most mutations are unique to individual families. We aimed to analyze the spectrum of mutations in the ARSB gene re...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.11.003

    authors： Jurecka A,Piotrowska E,Cimbalistiene L,Gusina N,Sobczyńska A,Czartoryska B,Czerska K,Õunap K,Węgrzyn G,Tylki-Szymańska A

    更新日期：2012-02-01 00:00:00

  • Recent advances in Dyggve-Melchior-Clausen syndrome.

    abstract：:Dyggve-Melchior-Clausen (DMC) is a rare autosomal-recessive disorder characterized by the association of a progressive spondylo-epi-metaphyseal dysplasia and mental retardation ranging from mild to severe. Electron microscopy studies of both DMC chondrocytes and fibroblasts reveal an enlarged endoplasmic reticulum net...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2004.08.012

    authors： Paupe V,Gilbert T,Le Merrer M,Munnich A,Cormier-Daire V,El Ghouzzi V

    更新日期：2004-09-01 00:00:00

  • Mutational spectrum of cystic fibrosis patients from Córdoba province and its zone of influence: implications of molecular diagnosis in Argentina.

    abstract：:Cystic Fibrosis (CF) is an autosomal recessive disorder affecting 1/2000-4000 newborns in Caucasian populations. This lethal disease mainly affects respiratory and digestive organs as well as fertility in man. So far, the CF prevalence and mutational spectrum have showed specificity among populations and regions, maki...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2005.12.001

    authors： Ramírez AM,Ramos MD,Jiménez J,Ghio A,de Botelli MM,Rezzónico CA,Marqués I,Pereyro S,Casals T,de Kremer RD

    更新日期：2006-04-01 00:00:00

  • A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization.

    abstract：:Inborn defects of cholesterol biosynthesis are metabolic disorders presenting with multi-organ and tissue anomalies. An autosomal recessive defect involving the demethylating enzyme C4-methyl sterol (SC4MOL) has been reported in only 4 patients so far. In infancy, all patients were affected by microcephaly, bilateral ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2017.06.013

    authors： Frisso G,Gelzo M,Procopio E,Sica C,Lenza MP,Dello Russo A,Donati MA,Salvatore F,Corso G

    更新日期：2017-08-01 00:00:00

  • Pilot study of mass screening for Wilson's disease in Korea.

    abstract：:Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism with copper accumulation in the liver as well as in the central nervous system. Treatment of WD includes oral chelating agents and diet and it is effective. However, once irreversible damage has occurred, the effect of treatment is diminishe...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/s1096-7192(02)00026-4

    authors： Hahn SH,Lee SY,Jang YJ,Kim SN,Shin HC,Park SY,Han HS,Yu ES,Yoo HW,Lee JS,Chung CS,Lee SY,Lee DH

    更新日期：2002-06-01 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

  • Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots.

    abstract：:Derivatives of 4-methylumbelliferone (4MU) are favorite substrates for the measurement of lysosomal enzyme activities in a wide variety of cell and tissue specimens. Hydrolysis of these artificial substrates at acidic pH leads to the formation of 4-methylumbelliferone, which is highly fluorescent at a pH above 10. Whe...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2010.09.008

    authors： Oemardien LF,Boer AM,Ruijter GJ,van der Ploeg AT,de Klerk JB,Reuser AJ,Verheijen FW

    更新日期：2011-01-01 00:00:00