当前位置： SCI文献检索 > JOURNAL OF INHERITED METABOLIC DISEASE期刊下所有文献 > Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groups alpha and beta stimulates LDL-derived cholesterol esterification.

Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groups alpha and beta stimulates LDL-derived cholesterol esterification.

Abstract：

:Niemann-Pick disease type C (NPC) is a neurovisceral storage disorder with an unknown primary deficiency. Somatic cell hybridization experiments using human cultured fibroblasts have shown that two complementation groups (NPC-alpha and NPC-beta) are associated with the biochemical and clinical phenotypes comprising NPC. We identified the rarer complementation group NPC-beta originally using the technique of filipin staining as a marker for complementation. In this study we show that the esterification of cholesterol derived from the LDL pathway can be used as an isotopic assay. However, multinuclear hybrids exhibit a delayed induction in this pathway. Furthermore, we discovered that, in the presence of an LDL source, co-cultivation of fibroblasts belonging to NPC-alpha and NPC-beta stimulated cholesterol esterification.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Steinberg SJ,Mondal D,Fensom AH

doi

10.1007/BF01799171

subject

Has Abstract

pub_date

1996-01-01 00:00:00

pages

769-74

issue

6

eissn

0141-8955

issn

1573-2665

journal_volume

19

pub_type

杂志文章

相关文献

JOURNAL OF INHERITED METABOLIC DISEASE文献大全
  • Prenatal diagnosis and prevention of inherited abnormalities of collagen.

    abstract：:There is now strong evidence for the implication of collagen alpha 1(I), alpha 2(I) and alpha 1(III) mutations in many forms of osteogenesis imperfecta and inherited arterial aneurysms (Ehlers Danlos syndrome type IV). A sizeable proportion of these disorders have detectable abnormalities by conventional protein chemi...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/BF01799292

    authors： Pope FM,Daw SC,Narcisi P,Richards AR,Nicholls AC

    更新日期：1989-01-01 00:00:00

  • Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis.

    abstract：:Neurological manifestations in Lesch-Nyhan disease (LND) are attributed to the effect of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency on the nervous system development. HPRT deficiency causes the excretion of increased amounts of hypoxanthine into the extracellular medium and we hypothesized that H...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-015-9854-4

    authors： Torres RJ,Puig JG

    更新日期：2015-11-01 00:00:00

  • Elevation of lung surfactant phosphatidylcholine in mouse models of Sandhoff and of Niemann-Pick A disease.

    abstract：:Sandhoff disease is caused by the defective activity of the lysosomal enzyme beta-hexosaminidase, resulting in accumulation of the glycolipids, GA2 and GM2. Niemann-Pick A/B disease is caused by the defective activity of lysosomal acid sphingomyelinase resulting in sphingomyelin accumulation. Pulmonary complications h...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/b:boli.0000042958.22066.6c

    authors： Buccoliero R,Ginzburg L,Futerman AH

    更新日期：2004-01-01 00:00:00

  • Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency.

    abstract：:The carnitine ester spectrum was studied using ESI tandem mass spectrometry in a 2.5-year-old male Roma child with homozygous deletion of 844C of the SLC22A5 gene, presenting with hepatopathy and cardiomyopathy. Besides the dramatic decrease of plasma free carnitine (1.38 vs 32.7 mumol/L in controls) all plasma carnit...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-009-0926-1

    authors： Komlósi K,Magyari L,Talián GC,Nemes E,Káposzta R,Mogyorósy G,Méhes K,Melegh B

    更新日期：2009-12-01 00:00:00

  • Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome.

    abstract：:Plasmalogens are a special class of ether-phospholipids, best recognized by their vinyl-ether bond at the sn-1 position of the glycerobackbone and by the observation that their deficiency causes rhizomelic chondrodysplasia punctata (RCDP). The complex plasmalogen biosynthetic pathway involves multiple enzymatic steps ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-014-9795-3

    authors： Malheiro AR,da Silva TF,Brites P

    更新日期：2015-01-01 00:00:00

  • Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.

    abstract：:A biochemical variant of argininosuccinate lyase deficiency, found in five individuals, is introduced. In comparison to classical patients, the variant cases of argininosuccinate lyase deficiency were characterized by residual enzyme activity as measured by the incorporation of [14C]citrulline into proteins. The five ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1020108002877

    authors： Kleijer WJ,Garritsen VH,Linnebank M,Mooyer P,Huijmans JG,Mustonen A,Simola KO,Arslan-Kirchner M,Battini R,Briones P,Cardo E,Mandel H,Tschiedel E,Wanders RJ,Koch HG

    更新日期：2002-09-01 00:00:00

  • Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.

    abstract：:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the gene encoding thymidine phosphorylase and is characterized by external ophthalmoparesis, gastrointestinal dysmotility, leukoencephalopathy, and neuropathy. The availability of new therapeutic opt...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-011-9332-6

    authors： Filosto M,Scarpelli M,Tonin P,Testi S,Cotelli MS,Rossi M,Salvi A,Grottolo A,Vielmi V,Todeschini A,Fabrizi GM,Padovani A,Tomelleri G

    更新日期：2011-12-01 00:00:00

  • Intravenous immune globulin in lysinuric protein intolerance.

    abstract：:In addition to systemic manifestations with skeletal, pulmonary, renal, and haematological signs, lysinuric protein intolerance (LPI), a membrane transport defect of cationic amino acids, is often complicated by severe life-threatening immunological manifestations. A 10-year-old boy with LPI who exhibited a severe sys...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1005383307100

    authors： Dionisi-Vici C,De Felice L,el Hachem M,Bottero S,Rizzo C,Paoloni A,Goffredo B,Sabetta G,Caniglia M

    更新日期：1998-04-01 00:00:00

  • Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.

    abstract：:Pyrroline-5-carboxylate reductase 1 (PYCR1) catalyzes the last step in proline synthesis. Deficiency of PYCR1, caused by a defect in PYCR1, was recently described in patients with cutis laxa, intrauterine growth retardation, developmental dysplasia of the hips and mental retardation. In this paper, we describe additio...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-011-9319-3

    authors： Kretz R,Bozorgmehr B,Kariminejad MH,Rohrbach M,Hausser I,Baumer A,Baumgartner M,Giunta C,Kariminejad A,Häberle J

    更新日期：2011-06-01 00:00:00

  • Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII.

    abstract：:Mucopolysaccharidoses (MPS) are a group of lysosomal storage diseases caused by mutations in lysosomal enzymes involved in degradation of glycosaminoglycans (GAGs). Patients with MPS grow poorly and become physically disabled due to systemic bone disease. While many of the major skeletal effects in mouse models for MP...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-012-9522-x

    authors： Rowan DJ,Tomatsu S,Grubb JH,Montaño AM,Sly WS

    更新日期：2013-03-01 00:00:00

  • Argininosuccinic acid synthetase deficiency in a hamster cell line and its complementation of argininosuccinic aciduria human fibroblasts.

    abstract：:Unlike normal human cells, cultured fibroblasts from patients with argininosuccinic aciduria cannot synthesize arginine from citrulline because they have a deficiency of argininosuccinic acid lyase (ASL). We have found that V79, a Chinese hamster cell line, cannot grow on citrulline. Although these cells show a normal...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF02312521

    authors： González-Noriega A,Verduzco J,Prieto E,Velázquez A

    更新日期：1980-01-01 00:00:00

  • Review: the immunochemical analysis of enzyme from mucopolysaccharidoses patients.

    abstract：:The immunochemical analysis of enzyme from mucopolysaccharidoses (MPS) patients is aimed at defining the level and nature of the enzymically deficient protein produced by specific gene mutations. Immunochemical techniques allow purification of enzyme, characterization of the composite molecular species, measurement of...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/BF00711309

    authors： Brooks DA

    更新日期：1993-01-01 00:00:00

  • Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice.

    abstract：:Tetrahydrobiopterin (BH4) is an essential cofactor for the aromatic amino acid hydroxylases, alkylglycerol monooxygenase, and nitric oxide synthases (NOS). Inborn errors of BH4 metabolism lead to severe insufficiency of brain monoamine neurotransmitters while augmentation of BH4 by supplementation or stimulation of it...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-015-9909-6

    authors： Korner G,Scherer T,Adamsen D,Rebuffat A,Crabtree M,Rassi A,Scavelli R,Homma D,Ledermann B,Konrad D,Ichinose H,Wolfrum C,Horsch M,Rathkolb B,Klingenspor M,Beckers J,Wolf E,Gailus-Durner V,Fuchs H,Hrabě de Angelis M,

    更新日期：2016-03-01 00:00:00

  • Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency.

    abstract：:Dopa decarboxylase (DDC or AADC) is a pyridoxal 5'-phosphate (PLP)-dependent enzyme that catalyzes the decarboxylation of L-aromatic amino acids into the corresponding aromatic amines. AADC deficiency is an inborn error of neurotransmitters biosynthesis with an autosomal recessive inheritance. About 30 pathogenic muta...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-011-9340-6

    authors： Montioli R,Cellini B,Borri Voltattorni C

    更新日期：2011-12-01 00:00:00

  • View from inside.

    abstract：: ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 社论

    doi：10.1007/s10545-018-0214-z

    authors： Halai J

    更新日期：2018-11-01 00:00:00

  • Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey.

    abstract：BACKGROUND:Hearing loss and tinnitus are common symptoms in Fabry disease and increase in prevalence with age. This study aimed to provide an epidemiological description of hearing impairment and tinnitus in children with Fabry disease in the Fabry Outcome Survey (FOS), an international database to assess the natural h...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,多中心研究

    doi：10.1007/s10545-009-1290-x

    authors： Keilmann A,Hajioff D,Ramaswami U,FOS Investigators.

    更新日期：2009-12-01 00:00:00

  • Inborn errors and demyelination: MRI and the diagnosis of white matter disease.

    abstract：:The progress and extent of myelination can be assessed using magnetic resonance imaging (MRI). Myelination is delayed or diminished in several inherited metabolic abnormalities presenting in early life. Only minimal myelination of the CNS occurs in Pelizaeus-Merzbacher disease. Dysmyelination tends to produce fairly s...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/BF00711909

    authors： Kendall BE

    更新日期：1993-01-01 00:00:00

  • Transcranial electrical stimulation (tES) mechanisms and its effects on cortical excitability and connectivity.

    abstract：:In this review, we describe transcranial electrical stimulation (tES) techniques currently being used in neuroscientific research, including transcranial direct current (tDCS), alternating current (tACS) and random noise (tRNS) stimulation techniques. We explain how these techniques are used and summarise the proposed...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-018-0181-4

    authors： Reed T,Cohen Kadosh R

    更新日期：2018-07-13 00:00:00

  • Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder.

    abstract：:We report a new constellation of clinical features consisting of hypermanganesaemia, liver cirrhosis, an extrapyramidal motor disorder and polycythaemia in a 12 year-old girl born to consanguineous parents. Blood manganese levels were >3000 nmol/L (normal range <320 nmol/L) and MRI revealed signal abnormalities of the...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-008-0813-1

    authors： Tuschl K,Mills PB,Parsons H,Malone M,Fowler D,Bitner-Glindzicz M,Clayton PT

    更新日期：2008-04-01 00:00:00

  • Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year survey.

    abstract：:Every newborn with unexplained neurological deterioration, ketosis, metabolic acidosis or hypoglycaemia should be suspected of having an inherited error of intermediary metabolism. Many of these conditions can be diagnosed clinically with the aid of simple laboratory investigations. Since a substantial number of these...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01799284

    authors： Saudubray JM,Ogier H,Bonnefont JP,Munnich A,Lombes A,Hervé F,Mitchel G,Thé BP,Specola N,Parvy P

    更新日期：1989-01-01 00:00:00

  • Gene therapy of metabolic diseases.

    abstract：:This review surveys the potential application of gene therapy to metabolic diseases. Proof of principle has been achieved in the treatment of two inherited immunodeficiency conditions. A significant safety issue has also been observed. Several strategies are being experimentally tested for a number of metabolic diseas...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-006-0270-7

    authors： Fischer A,Hacein-Bey-Abina S,Cavazzana-Calvo M

    更新日期：2006-04-01 00:00:00

  • A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.

    abstract：:Classic galactosemia is an autosomal recessive disorder caused by deficient galactose-1-phosphate uridylyltransferase (GALT) activity. Patients develop symptoms in the neonatal period, which can be ameliorated by dietary restriction of galactose. Many patients develop long-term complications, with a broad range of cli...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-013-9623-1

    authors： Coelho AI,Ramos R,Gaspar A,Costa C,Oliveira A,Diogo L,Garcia P,Paiva S,Martins E,Teles EL,Rodrigues E,Cardoso MT,Ferreira E,Sequeira S,Leite M,Silva MJ,de Almeida IT,Vicente JB,Rivera I

    更新日期：2014-01-01 00:00:00

  • Persistent 5-oxoprolinuria with normal glutathione synthase and 5-oxoprolinase activities.

    abstract：:5-Oxoprolinuria is primarily associated with inborn errors of the gamma-glutamyl cycle. In addition, transient 5-oxoprolinuria has been reported to occur in a variety of conditions, such as prematurity and malnutrition, and during medication. We report an unusual case of permanent 5-oxoprolinuria. The patient presente...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-006-0370-4

    authors： Ruijter GJ,Mourad-Baars PE,Ristoff E,Onkenhout W,Poorthuis BJ

    更新日期：2006-08-01 00:00:00

  • Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies.

    abstract：:We present an update to the status of research on succinic semialdehyde dehydrogenase (SSADH) deficiency (SSADHD), a rare disorder of GABA metabolism. This is an unusual disorder featuring the accumulation of both GABA and its neuromodulatory analog, gamma-hydroxybutyric acid (GHB), and recent studies have advanced th...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-018-0153-8

    authors： Vogel KR,Ainslie GR,Walters DC,McConnell A,Dhamne SC,Rotenberg A,Roullet JB,Gibson KM

    更新日期：2018-07-01 00:00:00

  • Tract-based evaluation of white matter damage in individuals with early-treated phenylketonuria.

    abstract：:Previous research has documented white matter abnormalities in the brains of individuals with early-treated phenylketonuria (ETPKU). The majority of these past studies have relied on a region-based approach which focused on a limited number of spatially-defined regions within the brain. In the present study, we used d...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-013-9650-y

    authors： Peng H,Peck D,White DA,Christ SE

    更新日期：2014-03-01 00:00:00

  • Developing adenoviral-mediated in vivo gene therapy for ornithine transcarbamylase deficiency.

    abstract：:There are a number of reasons for choosing ornithine transcarbamylase (OTC) deficiency as a candidate for gene therapy: the gene has been cloned; the disorder is relatively common; the current clinical outcome is poor; and there are authentic animal models. In considering the development of gene therapy for OTC defici...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1005369926784

    authors： Raper SE,Wilson JM,Yudkoff M,Robinson MB,Ye X,Batshaw ML

    更新日期：1998-01-01 00:00:00

  • Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.

    abstract：:Sjögren-Larsson syndrome (SLS) is a rare neurometabolic syndrome caused by deficient fatty aldehyde dehydrogenase. Patients exhibit intellectual disability, spastic paraplegia, and ichthyosis. The accumulation of fatty alcohols and fatty aldehydes has been demonstrated in plasma and skin but never in brain. Brain magn...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1002/jimd.12275

    authors： Staps P,Rizzo WB,Vaz FM,Bugiani M,Giera M,Heijs B,van Kampen AHC,Pras-Raves ML,Breur M,Groen A,Ferdinandusse S,van der Graaf M,Van Goethem G,Lammens M,Wevers RA,Willemsen MAAP

    更新日期：2020-11-01 00:00:00

  • Practical guide for morphometry of human peroxisomes on electron micrographs.

    abstract：:Morphometry of peroxisomes is performed on electron micrographs of ultrathin sections after staining for catalase activity with diaminobenzidine; specific peroxisomal labelling is preferred to guarantee recognition. Peroxisomal number, size, axial ratio and volume parameters are determined and compared to control valu...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/BF00711438

    authors： Kerckaert I,De Craemer D,Van Limbergen G

    更新日期：1995-01-01 00:00:00

  • Techniques for studying hepatic metabolism in vivo.

    abstract：:Techniques for studying metabolic events in vivo in patients with inborn errors are reviewed. Loading or provocation tests that have been used widely are insensitive and frequently non-specific. Compounds labelled with stable isotopes can be used to study enzyme kinetics and substrate turnover, providing more detailed...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/BF01797925

    authors： Leonard JV,Thompson GN

    更新日期：1991-01-01 00:00:00

  • Hypercholesterolaemia type II: changes in plasma insulin and glucagon levels after portacaval shunt.

    abstract：:Insulinaemia and glucagonaemia were measured in two cases of hypercholesterolaemia type II, before and after portacaval shunt. The results show an increase of both hormones although these variations are not concomitant with the decrease in cholesterolaemia. The data still do not explain the mechanism of the decrease. ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01801719

    authors： Farriaux JP,Luyckx AS,Ribet M

    更新日期：1980-01-01 00:00:00