当前位置： SCI文献检索 > JOURNAL OF INHERITED METABOLIC DISEASE期刊下所有文献 > Mitochondrial oxidative phosphorylation: pitfalls and tips in measuring and interpreting enzyme activities.

Mitochondrial oxidative phosphorylation: pitfalls and tips in measuring and interpreting enzyme activities.

Abstract：

:Mitochondrial oxidative phosphorylation (OXPHOS) is fundamental in all aspects of cellular life in aerobic cells and organisms. It is therefore not surprising that a variety of diseases have been attributed to dysfunction of the OXPHOS enzymes. Assessment of OXPHOS in human samples has proved to be a difficult task over years, even when relying on well-established methods. The complexity and the flexibility of the mitochondrial organization in cells account for a large part in the difficulties encountered in assessing OXPHOS activity. Nevertheless, a careful and detailed analysis of OXPHOS enzyme activity in cells or biopsy samples from patients at risk provides diagnosis of potential OXPHOS deficiency. Problems inherent in the use of human material, mostly the small size of the samples to be analysed, are difficult to resolve. However, cautious handling of these samples permits reasonable confidence to be reached in the interpretation of the data.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Chretien D,Rustin P

doi

10.1023/a:1024437201166

keywords:

subject

Has Abstract

pub_date

2003-01-01 00:00:00

pages

189-98

issue

2-3

eissn

0141-8955

issn

1573-2665

journal_volume

26

pub_type

杂志文章,评审

相关文献

JOURNAL OF INHERITED METABOLIC DISEASE文献大全
  • The effect of L-alanine therapy in a patient with adult onset glycogen storage disease type II.

    abstract：:Adult-onset glycogen storage disease type II (GSD II) (McKusick 232300) is a progressive disabling myopathy. At present there is no treatment of proven clinical efficacy. Enzyme replacement therapy may in the future provide benefit but it will be costly and is not yet freely available. L-Alanine, a simple and relative...

    journal_title：Journal of inherited metabolic disease

    pub_type： 临床试验,杂志文章

    doi：10.1007/s10545-006-0238-7

    authors： Mundy HR,Williams JE,Cousins AJ,Lee PJ

    更新日期：2006-02-01 00:00:00

  • Assessing the severity of the small inframe deletion mutation in the alpha-subunit of beta-hexosaminidase A found in the Turkish population by reproducing it in the more stable beta-subunit.

    abstract：:GM(2) gangliosidoses are a group of panethnic lysosomal storage diseases in which GM(2) ganglioside accumulates in the lysosome due to a defect in one of three genes, two of which encode the alpha- or beta-subunits of beta- N -acetylhexosaminidase (Hex) A. A small inframe deletion mutation in the catalytic domain of t...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/B:BOLI.0000045759.12935.76

    authors： Sinici I,Tropak MB,Mahuran DJ,Ozkara HA

    更新日期：2004-01-01 00:00:00

  • Hearing loss in children with Fabry disease.

    abstract：BACKGROUND:Hearing loss (HL) is a well-known feature of Fabry disease (FD). Its presence and characteristics have mainly been studied in adult patients, while only limited data are available on the presence and degree of HL in children with FD. This prompted us to study hearing sensitivity in pediatric FD patients. ME...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-017-0051-5

    authors： Suntjens E,Dreschler WA,Hess-Erga J,Skrunes R,Wijburg FA,Linthorst GE,Tøndel C,Biegstraaten M

    更新日期：2017-09-01 00:00:00

  • Modifying exogenous glucocerebrosidase for effective replacement therapy in Gaucher disease.

    abstract：:Important therapeutic principles were established in developing effective enzyme replacement therapy for patients with Gaucher disease. The background and sequence of the investigations that led to effective delivery of exogenous glucocerebrosidase to the lipid-storing macrophages in patients with Gaucher disease are ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/BF00711365

    authors： Brady RO,Murray GJ,Barton NW

    更新日期：1994-01-01 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

  • Retinitis pigmentosa in mevalonate kinase deficiency.

    abstract：:Retinitis pigmentosa can occur as a complication of mevalonate kinase deficiency. This may be due to the unique isoprenoid metabolism in the retina. Early detection requires awareness on the part of the treating physician. ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-005-0178-7

    authors： Balgobind B,Wittebol-Post D,Frenkel J

    更新日期：2005-01-01 00:00:00

  • Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study.

    abstract：OBJECTIVE:Acyl-CoA oxidase (ACOX1) deficiency is a rare disorder of peroxisomal very-long chain fatty acid oxidation. No reports detailing attempted treatment, longitudinal imaging, or neuropathology exist. We describe the natural history of clinical symptoms and brain imaging in two siblings with ACOX1 deficiency, inc...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-014-9698-3

    authors： Wang RY,Monuki ES,Powers J,Schwartz PH,Watkins PA,Shi Y,Moser A,Shrier DA,Waterham HR,Nugent DJ,Abdenur JE

    更新日期：2014-09-01 00:00:00

  • Aspartylglycosaminuria: an inborn error of glycoprotein catabolism.

    abstract：:Aspartylglycosaminuria (AGU, McKusick 20840) is a metabolic disorder affecting the catabolism of glycoproteins. It was first described in 1967, by Jenner and Pollitt, in two mentally retarded English siblings. Subsequently several cases were reported from Finland (Palo and Mattsson, 1970; Autio, 1972; Autio et al., 19...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/BF02179139

    authors： Maury CP

    更新日期：1982-01-01 00:00:00

  • Symptoms and signs in organic acidurias.

    abstract：:Organic acidaemias can present with a wide variety of signs and symptoms. A survey of the clinical presentation of the organic acidurias shows that single symptoms are not characteristic or diagnostic. Clinical awareness coupled with appropriate laboratory investigation is required for the correct diagnosis to be reac...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF03047369

    authors： Brandt NJ

    更新日期：1984-01-01 00:00:00

  • Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry.

    abstract：:Hydroxyproline has the same integer molecular weight as leucine and isoleucine and is quantified with these by tandem mass spectrometry. An infant was diagnosed with hyperhydroxyprolinaemia following further evaluation of an elevated "leucine" level in newborn screening by tandem mass spectrometry. ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/b:boli.0000045839.08631.9d

    authors： Baykal T,Karaaslan I,Gokcay G,Demir F,Laleli Y,Demirkol M

    更新日期：2004-01-01 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

  • 3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4').

    abstract：:The Mendelian disorder known as 3-methylgutaconic aciduria (McKusick 250950) gives evidence of allelic and locus heterogeneity. Type 1 has a mild clinical phenotype and confirmed 3-methylgutaconyl-CoA hydratase deficiency; inheritance is autosomal recessive. Other forms have major clinical manifestations and subdivide...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01799632

    authors： Chitayat D,Chemke J,Gibson KM,Mamer OA,Kronick JB,McGill JJ,Rosenblatt B,Sweetman L,Scriver CR

    更新日期：1992-01-01 00:00:00

  • A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening.

    abstract：:As more states adopt expanded newborn screening for metabolic disorders, the overall number of false positives increases. False-positive screening results have been associated with increased anxiety and stress in parents of infants who require follow-up testing, even after the infant's good health is confirmed. This a...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-006-0381-1

    authors： Hewlett J,Waisbren SE

    更新日期：2006-10-01 00:00:00

  • Glycogen storage disease type 1a in three siblings with the G270V mutation.

    abstract：:Glycogen storage disease type 1a (von Gierke disease, GSD1a) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity. The cloning of G6Pase cDNA and characterization of the human G6Pase gene enabled the identification of the mutations causing GSD1a. Here we report on the clinical and biochemi...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1005445802822

    authors： Parvari R,Isam J,Moses SW

    更新日期：1999-04-01 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

  • Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review.

    abstract：:Congenital disorders of glycosylation (CDG) are a rapidly growing family comprising >100 genetic diseases. Some 25 CDG are pure O-glycosylation defects. Even among this CDG subgroup, phenotypic diversity is broad, ranging from mild to severe poly-organ/system dysfunction. Ophthalmic manifestations are present in 60% o...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1002/jimd.12025

    authors： Francisco R,Pascoal C,Marques-da-Silva D,Morava E,Gole GA,Coman D,Jaeken J,Dos Reis Ferreira V

    更新日期：2019-01-01 00:00:00

  • Amino acids: analytical aspects.

    abstract：:This workshop was organized as a direct response to concerns and queries raised by laboratory personnel, both in Europe and in the United States, about the imminent withdrawal of Beckman Coulter from the amino acid analysis market. The topics covered included external quality control schemes, standard operating proced...

    journal_title：Journal of inherited metabolic disease

    pub_type：

    doi：10.1023/a:1010343707174

    authors： Mayne PD,Roche G,Deverell D

    更新日期：2001-04-01 00:00:00

  • Mutations in GET4 disrupt the transmembrane domain recognition complex pathway.

    abstract：:The transmembrane domain recognition complex (TRC) targets cytoplasmic C-terminal tail-anchored (TA) proteins to their respective membranes in the endoplasmic reticulum (ER), Golgi, and mitochondria. It is composed of three proteins, GET4, BAG6, and GET5. We identified an individual with compound heterozygous missense...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1002/jimd.12249

    authors： Tambe MA,Ng BG,Shimada S,Wolfe LA,Adams DR,Undiagnosed Diseases Network.,Gahl WA,Bamshad MJ,Nickerson DA,Malicdan MCV,Freeze HH

    更新日期：2020-09-01 00:00:00

  • Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin.

    abstract：:Aspartylglycosaminuria (AGU) is a lysosomal storage disorder of glycoprotein degradation caused by deficiency of glycosylasparaginase (GA). A deletion mutation was found in a mildly affected AGU patient whose parents are first-cousins of Mauritian origin. One bp deletion at position 787 or 788 (delta T788) in exon 7 o...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01799351

    authors： Park H,Rossiter M,Fensom AH,Winchester B,Aronson NN Jr

    更新日期：1996-01-01 00:00:00

  • Multiple sulphatase deficiency in homozygotic twins.

    abstract：:Multiple sulphatase deficiency was studied in 3 siblings--one pair of monozygotic twins and their sister. The children's psychomotor development was arrested at the age of 18 to 24 months, and the hypotonic syndrome combined with signs of spasticity appeared. There was marked hepatosplenomegaly, conspicuously dry scal...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01805620

    authors： Nevsímalová S,Elleder M,Smíd F,Zemánková M

    更新日期：1984-01-01 00:00:00

  • Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study.

    abstract：:Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency of alpha-galactosidase A. Affected patients experience debilitating neuropathic pain and have premature mortality due to renal failure, cardiovascular disease or cerebrovascular complications. The disease may be X-linked dominant, s...

    journal_title：Journal of inherited metabolic disease

    pub_type： 临床试验,杂志文章

    doi：10.1023/b:boli.0000005658.14563.77

    authors： Baehner F,Kampmann C,Whybra C,Miebach E,Wiethoff CM,Beck M

    更新日期：2003-01-01 00:00:00

  • Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.

    abstract：:We describe three patients with congenital disorder of glycosylation (CDG) type Ia, all of whom had persistent hyperinsulinaemic hypoglycaemia responding to diazoxide therapy as a common feature. The first patient, an infant girl, presented with recurrent vomiting, failure to thrive, liver impairment, hypothyroidism a...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-009-1180-2

    authors： Shanti B,Silink M,Bhattacharya K,Howard NJ,Carpenter K,Fietz M,Clayton P,Christodoulou J

    更新日期：2009-12-01 00:00:00

  • Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.

    abstract：:Utilizing PCR and PCR-SSCP analysis we investigated the prevalence of glucocerebrosidase gene mutations in 47 unrelated Japanese patients with Gaucher disease. Sixty alleles (63.8%) and 20 alleles (21.3%) were identified by analysis for common mutations and PCR-SSCP analysis, respectively. The L444P and F213I mutation...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1005313724361

    authors： Ida H,Rennert OM,Kawame H,Maekawa K,Eto Y

    更新日期：1997-03-01 00:00:00

  • Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype.

    abstract：:The CLN3 gene is involved in juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten-Spielmeyer-Vogt disease, a severe hereditary neurodegenerative lysosomal storage disorder characterized by progressive disease pathology, with loss of vision as the first symptom. Another characteristic of JNCL is the lysosomal accu...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-005-0125-7

    authors： de Voer G,van der Bent P,Rodrigues AJ,van Ommen GJ,Peters DJ,Taschner PE

    更新日期：2005-01-01 00:00:00

  • Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.

    abstract：:Cystathionine beta synthase (CBS) deficiency is a recessive inborn error of metabolism characterized by elevated serum total homocysteine (tHcy). Betaine supplementation, which can lower tHcy by stimulating homocysteine remethylation to methionine, is often given to CBS deficient patients in combination with other tre...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-015-9883-z

    authors： Gupta S,Wang L,Kruger WD

    更新日期：2016-01-01 00:00:00

  • Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase.

    abstract：BACKGROUND:Variations in the gene ACADS, encoding the mitochondrial protein short-chain acyl CoA-dehydrogenase (SCAD), have been observed in individuals with clinical symptoms. The phenotype of SCAD deficiency (SCADD) is very heterogeneous, ranging from asymptomatic to severe, without a clear genotype-phenotype correla...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-010-9255-7

    authors： Schmidt SP,Corydon TJ,Pedersen CB,Vang S,Palmfeldt J,Stenbroen V,Wanders RJ,Ruiter JP,Gregersen N

    更新日期：2011-04-01 00:00:00

  • Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG).

    abstract：:We report a retrospective electron-microscopical study of liver biopsies and fibroblast cultures of 19 patients with congenital disorders of glycosylation (CDG) of different subtypes. A constant finding in liver biopsies of all CDG-I cases was that of abnormal lysosomal lamellar inclusions in the hepatocytes, which we...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1024023429680

    authors： Grünewald S,De Vos R,Jaeken J

    更新日期：2003-01-01 00:00:00

  • Barth syndrome presenting with acute metabolic decompensation in the neonatal period.

    abstract：:We describe two patients affected by Barth syndrome. Their symptoms became manifest on respectively the third and first day of their lives. Clinical presentation included poor sucking, lethargy, hypotonia, hypothermia and cardiomyopathy. Laboratory findings such as hypoglycaemia, metabolic acidosis, elevated transamin...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-006-0388-7

    authors： Donati MA,Malvagia S,Pasquini E,Morrone A,La Marca G,Garavaglia B,Toniolo D,Zammarchi E

    更新日期：2006-10-01 00:00:00

  • Detoxification pathways in the liver.

    abstract：:The liver plays an important rôle in protecting the organism from potentially toxic chemical insults through its capacity to convert lipophiles into more water-soluble metabolites which can be efficiently eliminated from the body via the urine. This protective ability of the liver stems from the expression of a wide v...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/BF01797915

    authors： Grant DM

    更新日期：1991-01-01 00:00:00

  • Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.

    abstract：:Carnitine transporter deficiency (CTD) and holocarboxylase synthetase deficiency (HLCSD) are frequent in The Faroe Islands compared to other areas, and treatment is available for both disorders. In order to evaluate the feasibility of neonatal screening in The Faroe Islands we studied detection in the neonatal period ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-007-0527-9

    authors： Lund AM,Joensen F,Hougaard DM,Jensen LK,Christensen E,Christensen M,Nørgaard-Petersen B,Schwartz M,Skovby F

    更新日期：2007-06-01 00:00:00