Search Results - "Meissner, Peter N"

C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload by Whatley, Sharon D., Ducamp, Sarah, Gouya, Laurent, Grandchamp, Bernard, Beaumont, Carole, Badminton, Michael N., Elder, George H., Holme, S. Alexander, Anstey, Alexander V., Parker, Michelle, Corrigall, Anne V., Meissner, Peter N., Hift, Richard J., Marsden, Joanne T., Ma, Yun, Mieli-Vergani, Giorgina, Deybach, Jean-Charles, Puy, Hervé

“…All reported mutations in ALAS2, which encodes the rate-regulating enzyme of erythroid heme biosynthesis, cause X-linked sideroblastic anemia. We describe…”
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Crystal Structure of Protoporphyrinogen Oxidase from Myxococcus xanthus and Its Complex with the Inhibitor Acifluorfen by Corradi, Hazel R., Corrigall, Anne V., Boix, Ester, Mohan, C.Gopi, Sturrock, Edward D., Meissner, Peter N., Acharya, K.Ravi

“…Protoporphyrinogen IX oxidase, a monotopic membrane protein, which catalyzes the oxidation of protoporphyrinogen IX to protoporphyrin IX in the…”
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Erythroid heme biosynthesis and its disorders by Dailey, Harry A, Meissner, Peter N

“…Heme, which is composed of iron and the small organic molecule protoporphyrin, is an essential component of hemoglobin as well as a variety of physiologically…”
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A review of the clinical presentation, natural history and inheritance of variegate porphyria: its implausibility as the source of the 'Royal Malady' by Hift, Richard J, Peters, Timothy J, Meissner, Peter N

“…It has been suggested that King George III of Great Britain suffered from the haem biosynthetic disorder, variegate porphyria. This diagnosis is pervasive…”
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An Analysis of 112 Acute Porphyric Attacks in Cape Town, South Africa: Evidence That Acute Intermittent Porphyria and Variegate Porphyria Differ in Susceptibility and Severity by Hift, Richard J., Meissner, Peter N.

“…Four forms of porphyria may present clinically with the acute attack, an episodic, severe, and potentially life-threatening manifestation characterized by…”
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Fifty years of porphyria at the University of Cape Town by Meissner, Peter N, Corrigall, Anne V, Hift, Richard J

“…The porphyrias are a group of disorders resulting from defective haem biosynthesis. One form, variegate porphyria, is common in South Africa as a result of a…”
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Characterisation of the flavin adenine dinucleotide binding region of Myxococcus xanthus protoporphyrinogen oxidase by Boateng, Mavis O, Corrigall, Anne V, Sturrock, Edward, Meissner, Peter N

“…Protoporphyrinogen oxidase (PPOX), the penultimate enzyme in the haem biosynthetic pathway catalysers the six electron oxidation of protoporphyrinogen-IX to…”
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Plasma Fluorescence Scanning and Fecal Porphyrin Analysis for the Diagnosis of Variegate Porphyria: Precise Determination of Sensitivity and Specificity with Detection of Protoporphyrinogen Oxidase Mutations as a Reference Standard by Hift, Richard J, Davidson, Brandon P, van der Hooft, Cornelis, Meissner, Doreen M, Meissner, Peter N

“…Variegate porphyria (VP) is the autosomal dominant disorder associated with deficiency of the enzyme protoporphyrinogen oxidase (PPOX). Plasma fluorescence…”
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The acute porphyrias by Elder, G H, Hift, R J, Meissner, P N

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A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria by Meissner, Peter N, Dailey, Tamara A, Hift, Richard J, Ziman, Mel, Corrigall, Anne V, Roberts, Andrew G, Meissner, Doreen M, Kirsch, Ralph E, Dailey, Harry A

“…Variegate porphyria (VP), a low-penetrant autosomal dominant inherited disorder of haem metabolism, is characterised by photosensitivity (Fig. 1) and a…”
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Mitochondrial targeting of human protoporphyrinogen oxidase by Davids, Lester M., Corrigall, Anne V., Meissner, Peter N.

“…Variegate porphyria is an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the…”
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Commentary by Meissner, Peter N, Hift, Richard J

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Kinetic and physical characterisation of recombinant wild-type and mutant human protoporphyrinogen oxidases by Maneli, Mbulelo H., Corrigall, Anne V., Klump, Horst H., Davids, Lester M., Kirsch, Ralph E., Meissner, Peter N.

“…The effects of various protoporphyrinogen oxidase (PPOX) mutations responsible for variegate porphyria (VP), the roles of the arginine-59 residue and the…”
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Commentary by Meissner, Peter N, Hift, Richard J

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Commentary by Meissner, Peter N, Hift, Richard J

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A mouse model for South African (R59W) variegate porphyria: construction and initial characterization by Medlock, Amy E, Meissner, Peter N, Davidson, Brandon P, Corrigall, Anne V, Dailey, Harry A

“…Variegate porphyria is inherited as an autosomal dominant disease with variable penetrance. It is characterized clinically by photocutaneous sensitivity and…”
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Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family by Corrigall, Anne V., Hift, Richard J., Hancock, Valerie, Meissner, Doreen, Davids, Lester, Kirsch, Ralph E., Meissner, Peter N.

“…Variegate porphyria is an autosomal dominant disorder of haem metabolism resulting from a partial decrease in protoporphyrinogen oxidase activity. Variegate…”
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Fifty years of porphyria at the University of Cape Town : forum - reflections by Meissner, Peter N, Corrigall, Anne V, Hift, Richard J

“…The porphyrias are a group of disorders resulting from defective haem biosynthesis. One form, variegate porphyria, is common in South Africa as a result of a…”
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The expression of protoporphyrinogen oxidase in human tissues by Corrigall, A V, Campbell, J A H, Siziba, K, Kirsch, R E, Meissner, P N

“…Protoporphyrinogen oxidase is the penultimate enzyme in the haem biosynthetic pathway. In this study, the expression of protoporphyrinogen oxidase in a variety…”
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Variegate porphyria by Kirsch, R E, Meissner, P N, Hift, R J

“…Variegate porphyria is an autosomal dominant inherited trait resulting in decreased activity of protoporphyrinogen oxidase. It is characterized clinically by…”
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