Výsledky vyhledávání - "Nigel J. Manning"

Akademický článek

Fibroblast Fatty-Acid Oxidation Flux Assays Stratify Risk in Newborns with Presumptive-Positive Results on Screening for Very-Long Chain Acyl-CoA Dehydrogenase Deficiency

Autor: Simon E. Olpin, Shirley Clark, Jane Dalley, Brage S. Andresen, Joanne Croft, Camilla A. Scott, Aneal Khan, Richard J. Kirk, Rebecca Sparkes, Marisa Chard, Alicia Chan, Emma Glamuzina, Jean Bastin, Nigel J. Manning, Rodney J. Pollitt

Publikováno v: International Journal of Neonatal Screening, Vol 3, Iss 1, p 2 (2017)

Very-long chain acyl-CoA dehydrogenase deficiency (VLCADD) is a clinically heterogeneous disorder with three major phenotypes: severe neonatal/infantile, milder childhood and late onset myopathic. VLCADD is genetically heterogeneous with numerous pat

Externí odkaz: https://doaj.org/article/b8698ab65b934b559c33cf4ea396d746

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An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene

Autor: Emma Hobson, Angus Dobbie, Hans R. Waterham, Verity L. Hartill, Carolyn Tysoe, Nigel J. Manning, Janet Koster, Richard Caswell, John H. Walter, Saikat Santra

Publikováno v: American journal of medical genetics. Part A, 164A(4), 907-914. Wiley-Liss Inc.

We report on a family in which four males over three generations are affected with X-linked recessive developmental delay, learning difficulties, severe behavioral difficulties and mild dysmorphic features. Plasma sterol analysis in three of the four

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec9a207999fdf0a4aa9e7bd87c055ffc
https://doi.org/10.1002/ajmg.a.36368

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Glutaric aciduria type 1 in South Africa—high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans

Autor: Ingrid Baumgarten, E. P. Owen, Nicholas D. Watermeyer, Felicity Leisegang, Nigel J. Manning, Howard E. Henderson, George van der Watt, Peter Berman, Surita Meldau, Simon E. Olpin

Publikováno v: Molecular Genetics and Metabolism. 101:178-182

Glutaric Aciduria type 1 (GA 1) is an inherited disorder of lysine and tryptophan catabolism that typically manifests in infants with acute cerebral injury associated with intercurrent illness. We investigated the clinical, biochemical and molecular

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dd25c740b28678ac623d63fc401dcdc
https://doi.org/10.1016/j.ymgme.2010.07.018

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Differential Azole Antifungal Efficacies Contrasted Using a Saccharomyces cerevisiae Strain Humanized for Sterol 14α-Demethylase at the Homologous Locus

Autor: Denis Pompon, Josie E. Parker, M Merkamm, Steven L. Kelly, Nigel J. Manning, Diane E. Kelly

Publikováno v: Antimicrobial Agents and Chemotherapy. 52:3597-3603

Inhibition of sterol-14α-demethylase, a cytochrome P450 (CYP51, Erg11p), is the mode of action of azole antifungal drugs, and with high frequencies of fungal infections new agents are required. New drugs that target fungal CYP51 should not inhibit h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a57884cb451ffd38117532fe4d33625c
https://doi.org/10.1128/aac.00517-08

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New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition

Autor: Nigel J. Manning, Eduardo Calpena, Akhilesh Kumar, Sufin Yap, Anand K. Bachhawat, Anup Arunrao Deshpande, Carmen Espinós

Publikováno v: EUROPEAN JOURNAL OF PEDIATRICS
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
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Inherited 5-oxoprolinase (OPLAH) deficiency is a rare inborn condition characterised by 5-oxoprolinuria. To date, three OPLAH mutations have been described: p.H870Pfs in a homozygous state, which results in a truncated protein, was reported in two si

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c96400e642b0a9b478d7f254e1d4394
https://fundanet.cipf.es/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1657

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Reduced intracellular accumulation of azole antifungal results in resistance in Candida albicans isolate NCPF 3363

Autor: Steven L. Kelly, David C. Lamb, Nigel J. Manning, Diane E. Kelly

Publikováno v: FEMS Microbiology Letters. 147:189-193

Candida albicans strain NCPF 3363 was isolated from a British patient with chronic mucocutaneous candidiasis (CMC) and confirmed to be resistant to azole antifungal compounds. In this study we investigate the molecular basis of resistance and show th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7229ff50f41ea2b9f4db70fe701034f
https://doi.org/10.1111/j.1574-6968.1997.tb10240.x

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A Novel Sterol 14α-Demethylase/Ferredoxin Fusion Protein (MCCYP51FX) from Methylococcus capsulatusRepresents a New Class of the Cytochrome P450 Superfamily

Autor: Nigel J. Manning, Andrew G. S. Warrilow, Diane E. Kelly, Colin J. Jackson, David C. Lamb, Timothy H. Marczylo, David J. Lowe, Steven L. Kelly

Publikováno v: Journal of Biological Chemistry. 277:46959-46965

Sterol 14alpha-demethylase encoded by CYP51 is a member of the cytochrome P450 (CYP) superfamily of enzymes and has been shown to have an essential role in sterol biosynthesis in eukaryotes, with orthologues recently being described in some bacteria.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d44958a95ec9d6ab819589fc6e3a2f0
https://doi.org/10.1074/jbc.m203523200

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2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man

Autor: Jos P.N. Ruiter, Rodney J. Pollitt, R. J. A. Wanders, Simon E. Olpin, Nigel J. Manning, J. Mcmenamin, G. T. N. Besley

Publikováno v: Journal of inherited metabolic disease, 25(6), 477-482. Springer Netherlands

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (EC 1.1.1.178) deficiency is a recently described defect of isoleucine catabolism. The disorder is characterized by normal early development followed by a progressive loss of mental and motor skills. Deteri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e46751327839bfffd08256c6533df748
https://doi.org/10.1023/a:1021251202287

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Features of carnitine palmitoyltransferase type I deficiency

Autor: Nigel J. Manning, Rodney J. Pollitt, J. C. Allen, M. Downing, S. Jones, James R. Bonham, S. J. Standing, M. S. Tanner, J. Calvin, Peter E. Clayton, K. Ives, S. Clark, Simon E. Olpin

Publikováno v: Journal of Inherited Metabolic Disease. 24:35-42

Carnitine palmitoyltransferase type I (CPT I) is unique among long-chain fatty acid oxidation enzymes in that there are two tissue-specific isoforms, 'hepatic' and 'muscle', which are encoded by two separate genes. The 'hepatic' isoform is expressed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c21c83092c58c9bc24af824f664f5dd4
https://doi.org/10.1023/a:1005694320063

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Biodiversity of the P450 catalytic cycle: yeast cytochromeb5/NADH cytochromeb5reductase complex efficiently drives the entire sterol 14-demethylation (CYP51) reaction

Autor: Steven L. Kelly, Nigel J. Manning, Diane E. Kelly, Mustak A. Kaderbhai, David C. Lamb

Publikováno v: FEBS Letters. 462:283-288

The widely accepted catalytic cycle of cytochromes P450 (CYP) involves the electron transfer from NADPH cytochrome P450 reductase (CPR), with a potential for second electron donation from the microsomal cytochrome b5/NADH cytochrome b5 reductase syst

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15e99494909df8d244550aae4cfb61dc
https://doi.org/10.1016/s0014-5793(99)01548-3

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