当前位置： SCI文献检索 > MOLECULAR GENETICS AND METABOLISM期刊下所有文献 > Studies on human porin XVIII: the multicompartment effector ruthenium red reduces the voltage dependence of human VDAC in planar lipid bilayers.

Studies on human porin XVIII: the multicompartment effector ruthenium red reduces the voltage dependence of human VDAC in planar lipid bilayers.

Abstract：

:The initial data on the effect of ruthenium red on mature human type-1 VDAC are presented. Highly enriched human type-1 porin in planar lipid bilayers shows lowered voltage-dependence whenever a commercially available ruthenium red preparation is applied. The hexavalent polycationic dye ruthenium red affects different functions in varying cell compartments. Concerning the plasma membrane of cells the actual data, together with our former measurements on the interaction of VDAC and the polycationic synthetic polyamine Compound 48/80, refer to a second VDAC opener, which is relevant for studies on the stimulation of exocytotic processes of different cell types.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Siadat S,Reymann S,Horn A,Thinnes FP

doi

10.1006/mgme.1998.2764

subject

Has Abstract

pub_date

1998-11-01 00:00:00

pages

246-9

issue

3

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(98)92764-0

journal_volume

65

pub_type

杂志文章

相关文献

MOLECULAR GENETICS AND METABOLISM文献大全
  • 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

  • N-acetylglutamate synthase: structure, function and defects.

    abstract：:N-acetylglutamate (NAG) is a unique enzyme cofactor, essential for liver ureagenesis in mammals while it is the first committed substrate for de novo arginine biosynthesis in microorganisms and plants. The enzyme that produces NAG from glutamate and CoA, NAG synthase (NAGS), is allosterically inhibited by arginine in ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2010.02.018

    authors： Caldovic L,Ah Mew N,Shi D,Morizono H,Yudkoff M,Tuchman M

    更新日期：2010-01-01 00:00:00

  • Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.

    abstract：:Medium-chain acyl-coA dehydrogenase (MCAD) deficiency is a commonly detected fatty acid oxidation disorder and its diagnosis relies on both biochemical and molecular analyses. Over a 5-year period, sequencing all 12 exons of the MCAD gene (ACADM) in our laboratory revealed a total of 54 variants in 549 subjects analyz...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2010.04.001

    authors： Smith EH,Thomas C,McHugh D,Gavrilov D,Raymond K,Rinaldo P,Tortorelli S,Matern D,Highsmith WE,Oglesbee D

    更新日期：2010-07-01 00:00:00

  • Two closely spaced nonsense mutations in the DMD gene in a Malaysian family.

    abstract：:In Duchenne muscular dystrophy (DMD), identification of one nonsense mutation in the DMD gene has been considered an endpoint of genetic diagnosis. Here, we identified two closely spaced nonsense mutations in the DMD gene. In a Malaysian DMD patient two nonsense mutations (p.234S>X and p.249Q>X, respectively) were ide...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.04.002

    authors： Rani AQ,Malueka RG,Sasongko TH,Awano H,Lee T,Yagi M,Zilfalil BA,Salmi AB,Takeshima Y,Zabidi-Hussin ZA,Matsuo M

    更新日期：2011-07-01 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

  • First characterization of a large deletion of the PDHA 1 gene.

    abstract：:Pyruvate dehydrogenase complex (PDC) deficiency is one of the major recognized causes of congenital lactic acidosis. The most common form is due to PDHA 1 gene (Xp22.12) defects. Here, we report the case of a Polynesian girl presenting with delayed neurological development, cortical atrophy, and posterior corpus callo...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2005.08.009

    authors： Brivet M,Moutard ML,Zater M,Venet L,Chenel C,Mine M,Legrand A

    更新日期：2005-12-01 00:00:00

  • Pathogenic mutations in the carboxyl-terminal domain of glutaryl-CoA dehydrogenase: effects on catalytic activity and the stability of the tetramer.

    abstract：:Inherited defects in glutaryl-CoA dehydrogenase cause the neurometabolic disease, glutaric acidemia type I. Five of over 80 mutations that have been identified are located in a carboxyl-terminal domain. The five mutations were generated by site directed mutagenesis and expressed in Escherichia coli. The mutant dehydro...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/s1096-7192(03)00109-4

    authors： Westover JB,Goodman SI,Frerman FE

    更新日期：2003-08-01 00:00:00

  • Systemic accumulation of undigested lysosomal metabolites in an autopsy case of mucolipidosis type II; autophagic dysfunction in cardiomyocyte.

    abstract：:Mucolipidosis type II is an autosomal recessive lysosomal storage disease caused by N-acetylglucosamine-1-phosphotransferese deficiency. We report here pathological findings of an autopsy case of mucolipidosis type II. The patient was an 8-year-old boy with mucolipidosis type II and was complicated with hypertrophic c...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2014.05.001

    authors： Sato Y,Kobayashi H,Sato S,Shimada Y,Fukuda T,Eto Y,Ohashi T,Ida H

    更新日期：2014-07-01 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

  • Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency.

    abstract：BACKGROUND:Urea cycle disorders are caused by dysfunction in any of the six enzymes and two transport proteins involved in urea biosynthesis. Our study focuses on ornithine transcarbamylase deficiency (OTCD), an X-linked disorder that results in a dysfunctional mitochondrial enzyme, which prevents the synthesis of citr...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2014.05.007

    authors： Sprouse C,King J,Helman G,Pacheco-Colón I,Shattuck K,Breeden A,Seltzer R,VanMeter JW,Gropman AL

    更新日期：2014-09-01 00:00:00

  • Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach.

    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

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2015.03.006

    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

  • 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

  • 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

  • A patient with arginase deficiency and episodic hyperammonemia successfully treated with menses cessation.

    abstract：:Arginase deficiency is an urea cycle disorder that generally presents with mental retardation and spasticity, yet uncommonly with episodes of hyperammonemia. A female adolescent with arginase deficiency developed hyperammonemic episodes temporally related to her menstrual cycle, which ceased upon adequate treatment wi...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2006.07.012

    authors： Boles RG,Stone ML

    更新日期：2006-12-01 00:00:00

  • Extended [13C]galactose oxidation studies in patients with galactosemia.

    abstract：:Since patients with galactose-1-phosphate uridyltransferase (GALT) deficiency have considerable endogenous galactose formation and only limited urinary excretion of galactose metabolites, there must be mechanisms for disposal of the sugar. Otherwise, a steady-state could not be maintained and there would be continuous...

    journal_title：Molecular genetics and metabolism

    pub_type： 临床试验,杂志文章

    doi：10.1016/j.ymgme.2004.03.003

    authors： Berry GT,Reynolds RA,Yager CT,Segal S

    更新日期：2004-06-01 00:00:00

  • Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease.

    abstract：:Glycogen storage disease type I (GSD I) is a metabolic disorder resulting from defects in the glucose-6-phosphatase system. Approximately 75% of adolescent and adult patients develop hepatocellular adenomas, which can lead to considerable morbidity and mortality. The pathogenesis of adenomas is unclear and the risk of...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2007.10.134

    authors： Di Rocco M,Calevo MG,Taro' M,Melis D,Allegri AE,Parenti G

    更新日期：2008-04-01 00:00:00

  • CFTR mutation analysis and haplotype associations in CF patients.

    abstract：:Most newborn screening (NBS) laboratories use second-tier molecular tests for cystic fibrosis (CF) using dried blood spots (DBS). The Centers for Disease Control and Prevention's NBS Quality Assurance Program offers proficiency testing (PT) in DBS for CF transmembrane conductance regulator (CFTR) gene mutation detecti...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.10.013

    authors： Cordovado SK,Hendrix M,Greene CN,Mochal S,Earley MC,Farrell PM,Kharrazi M,Hannon WH,Mueller PW

    更新日期：2012-02-01 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

  • 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

  • Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine.

    abstract：BACKGROUND:Miller syndrome (post-axial acrofacial dysostosis) arises from gene mutations for the mitochondrial enzyme dihydroorotate dehydrogenase (DHODH). Nonetheless, despite demonstrated loss of enzyme activity dihydroorotate (DHO) has not been shown to accumulate, but paradoxically urine orotate has been reported t...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2016.06.008

    authors： Duley JA,Henman MG,Carpenter KH,Bamshad MJ,Marshall GA,Ooi CY,Wilcken B,Pinner JR

    更新日期：2016-09-01 00:00:00

  • Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI.

    abstract：:Degenerative joint disease (DJD) is one aspect of mucopolysaccharidosis VI (MPS VI) pathology that has proven resistant to systemic enzyme replacement therapy (ERT). In this study the effect of repeated intra-articular injections (IA INJ) of recombinant human acetylgalactosamine-4-sulfatase (rh4S) on DJD was examined....

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2007.04.009

    authors： Auclair D,Hopwood JJ,Lemontt JF,Chen L,Byers S

    更新日期：2007-08-01 00:00:00

  • High prevalence of overweight and obesity in females with phenylketonuria.

    abstract：:The primary treatment for phenylketonuria (PKU) is a low phenylalanine diet together with an amino acid-based, phenylalanine-free formula. Thus, PKU patients tend to consume a diet enriched in carbohydrates which could predispose to obesity. Studies in the 1980s and 1990s demonstrated that school-age phenylketonuria (...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.07.006

    authors： Burrage LC,McConnell J,Haesler R,O'Riordan MA,Sutton VR,Kerr DS,McCandless SE

    更新日期：2012-09-01 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

  • Exclusion of SOX9 as the testis determining factor in Ellobius lutescens: evidence for another testis determining gene besides SRY and SOX9.

    abstract：:In mammals the initiation of testis determination usually depends on the Y-chromosomal gene SRY. A few species, however, escape from this rule with a testis determination that is independent of SRY. The mole vole Ellobius lutescens is one of these species. It is not known how testis determination is initiated in this ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2000.3105

    authors： Baumstark A,Akhverdyan M,Schulze A,Reisert I,Vogel W,Just W

    更新日期：2001-01-01 00:00:00

  • The higher susceptibility of congenital analbuminemic rats to Ca2+-induced mitochondrial permeability transition is associated with the increased expression of cyclophilin D and nitrosothiol depletion.

    abstract：:Congenital analbuminemia is a rare autosomal recessive disorder characterized by a trace level of albumin in blood plasma and mild clinical symptoms. Analbuminemic patients generally present associated abnormalities, among which dyslipidemia is a hallmark. In this study, we show that mitochondria isolated from differe...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.08.031

    authors： Figueira TR,Castilho RF,Saito A,Oliveira HC,Vercesi AE

    更新日期：2011-12-01 00:00:00

  • Identification of a mutation in LARS as a novel cause of infantile hepatopathy.

    abstract：:Infantile hepatopathies are life-threatening liver disorders that manifest in the first few months of life. We report on a consanguineous Irish Traveller family that includes six individuals presenting with acute liver failure in the first few months of life. Additional symptoms include anaemia, renal tubulopathy, dev...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.04.017

    authors： Casey JP,McGettigan P,Lynam-Lennon N,McDermott M,Regan R,Conroy J,Bourke B,O'Sullivan J,Crushell E,Lynch S,Ennis S

    更新日期：2012-07-01 00:00:00

  • Absence of α-galactosidase cross-correction in Fabry heterozygote cultured skin fibroblasts.

    abstract：:Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from deficiency of α-galactosidase A (GLA). Traditionally, heterozygotes were considered asymptomatic carriers of FD, but it is now apparent that the asymptomatic female carrier is the exception and most heterozygotes suffer significant multisystem...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2014.11.005

    authors： Fuller M,Mellett N,Hein LK,Brooks DA,Meikle PJ

    更新日期：2015-02-01 00:00:00

  • Genetic mutation profile of isovaleric acidemia patients in Taiwan.

    abstract：:Isovaleric acidemia (IVA), a rare recessive autosomal disorder, is caused by isovaleryl-CoA dehydrogenase (IVD) deficiency. IVA may present with symptoms during the acute stage of severe metabolic acidosis, ketosis, vomiting, and altered mental status. With the help of newborn screening (NBS) by tandem mass spectromet...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2006.08.011

    authors： Lin WD,Wang CH,Lee CC,Lai CC,Tsai Y,Tsai FJ

    更新日期：2007-02-01 00:00:00

  • Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease.

    abstract：:This 24-week, Phase I/II, double-blind, randomized, placebo-controlled study investigated the safety and efficacy of extended-release albuterol in late-onset Pompe disease stably treated with enzyme replacement therapy at the standard dose for 4.9 (1.0-9.4) years and with no contraindications to intake of albuterol. T...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,随机对照试验

    doi：10.1016/j.ymgme.2019.12.008

    authors： Koeberl DD,Case LE,Desai A,Smith EC,Walters C,Han SO,Thurberg BL,Young SP,Bali D,Kishnani PS

    更新日期：2020-02-01 00:00:00

  • Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during development.

    abstract：:The deficiency of a lysosomal enzyme, aspartylglucosaminidase, results in a lysosomal storage disorder, aspartylglucosaminuria, manifesting as progressive mental retardation. To understand tissue pathogenesis and disease progression we analyzed the developmental expression of the enzyme, especially in brain, which is ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1999.2872

    authors： Uusitalo A,Tenhunen K,Heinonen O,Hiltunen JO,Saarma M,Haltia M,Jalanko A,Peltonen L

    更新日期：1999-08-01 00:00:00