2011
DOI: 10.1182/blood-2011-06-361311
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UROS and ALAS-2: erstwhile partners in crime

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Cited by 3 publications
(4 citation statements)
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“…The low sensitivity of mutation detection in this and other CEP case series is unexplained (Whatley and Badminton, ). Gain‐of‐function mutations of ALAS2 (the first enzyme of erythroid heme synthesis) can also influence the severity of CEP (Bunn, ; To‐Figueras et al, ).…”
Section: Erythropoietic Porphyriasmentioning
confidence: 99%
“…The low sensitivity of mutation detection in this and other CEP case series is unexplained (Whatley and Badminton, ). Gain‐of‐function mutations of ALAS2 (the first enzyme of erythroid heme synthesis) can also influence the severity of CEP (Bunn, ; To‐Figueras et al, ).…”
Section: Erythropoietic Porphyriasmentioning
confidence: 99%
“…In an interesting twist, coinheritance of an ALAS2 gain-of-function mutation can affect the clinical phenotype of congenital erythropoietic porphyria (CEP), 356,357 which is caused by a defective uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme biosynthetic pathway. 353 Out of four unrelated CEP patients with the C73R/P248Q UROS genotype, To-Figueras et al 357 found that the most severe CEP patient also had a c.1757 A>T mutation in exon 11 of the ALAS2 gene, which translates into a variant of ALAS2 (i.e., Y586F) with a catalytic turnover greater than that of the wild-type enzyme.…”
Section: B X-linked Dominant Erythropoietic Protoporphyriamentioning
confidence: 99%
“…Developing states and scholars sympathetic to the cause see the right to development as the mother of all rights. According to Bedjaoui the right to development is a core right from which all other rights derive, 48 and flows from and has the same nature as the right to selfdetermination. 49 Also, ICESCR obligates states to cooperate for the development of all countries.…”
Section: Right To Development Advocacymentioning
confidence: 99%
“…Bunn enumerates the particulars of such uncertainty to include the ambiguity of the right, the vagueness of the identity of the rights holders and duty bearers, the uncertainty over the nature of individual or collective responsibility, and the non-justiciability or nonenforcement of the right. 58 In this part I discuss these objections except for that on non-justiciability, which is reserved for discussion in part 4. As far as the ambiguity of the right is concerned, Vandenbogaerde explains that the right to development has been controversial among states and scholars due to its lack of conceptual clarity.…”
Section: Hostility Towards the Right To Developmentmentioning
confidence: 99%