ライフサイエンスコーパス: protoporphyria

1 larvae and corroborated in 2 mouse models of protoporphyria.

2 lity of life in patients with erythropoietic protoporphyria.

3 tage chronic liver disease in erythropoietic protoporphyria.

4 gene therapies for congenital erythropoietic protoporphyria.

5 radic hepatic consequences of erythropoietic protoporphyria.

6 curring sporadically in human erythropoietic protoporphyria.

7 on ferrochelatase activity in patients with protoporphyria.

8 identified in the promoters of patients with protoporphyria.

9 n IX and iron to form heme and is mutated in protoporphyria.

10 n the human inherited disease erythropoietic protoporphyria.

11 eterogeneity in the most severe phenotype of protoporphyria.

12 e of sideroblastic anemia and erythropoietic protoporphyria.

13 r to that seen in humans with erythropoietic protoporphyria, a disorder of ferrochelatase.

14 he erythropoietic porphyrias, erythropoietic protoporphyria and congenital erythropoietic porphyria,

15 s performed for families with erythropoietic protoporphyria and four novel frameshift mutations were

16 eme synthesis within hepatocytes can lead to protoporphyria and hepatotoxicity.

17 four unrelated families with erythropoietic protoporphyria, and a G(- 1)-->A substitution at the exo

18 ole in anemias of iron deficiency, erythroid protoporphyria, and beta-thalassemia.

19 and that mutations underlying erythropoietic protoporphyria are heterogeneous.

20 tivity is deficient in the inherited disease protoporphyria as a result of heterogeneous mutations.

21 hropoietic porphyria and both erythropoietic protoporphyrias: autosomal dominant and X-linked.

22 7GlufsX2 mutant protein that causes X-linked protoporphyria bound strongly to SUCLA2, highlighting th

23 ed ePPIX levels and symptoms consistent with protoporphyria but no detectable mutation in the FECH or

24 Here we show that late-onset erythropoietic protoporphyria can be caused by deletion of the ferroche

25 ve shown that the majority of erythropoietic protoporphyria cases are transmitted in dominant fashion

26 pothesis that extracellular or intracellular protoporphyria cause damage to different subcellular com

27 ognized form of porphyria, X-linked dominant protoporphyria, characterized biochemically by a high pr

28 vert protoporphyrin IX into heme, leading to protoporphyria, cholestasis, and bridging cirrhosis.

29 cation of an X-linked form of erythropoietic protoporphyria due to gain-of-function mutations in eryt

30 f human rbc disorders, namely erythropoietic protoporphyria (EPP) and beta-thalassemia.

31 Autosomal recessive erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) a

32 rocytes from individuals with erythropoietic protoporphyria (EPP) have low levels of the final enzyme

33 X in erythroid cells promotes erythropoietic protoporphyria (EPP) in the affected family.

34 Importance: Erythropoietic protoporphyria (EPP) is a rare hereditary disease of hem

35 Erythropoietic protoporphyria (EPP) is a rare inherited disorder of the

36 Erythropoietic protoporphyria (EPP) is a rare inherited disorder of the

37 Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria

38 Erythropoietic protoporphyria (EPP) is an inherited disorder that resul

39 Erythropoietic protoporphyria (EPP) is caused by a defect in ferrochela

40 Erythropoietic protoporphyria (EPP) is caused by mutations in ferrochel

41 Erythropoietic protoporphyria (EPP) is characterized by a deficiency of

42 Erythropoietic protoporphyria (EPP) is marked by a deficiency of ferroc

43 protoporphyrin-IX (PP-IX) in erythropoietic protoporphyria (EPP) or X-linked-dominant protoporphyria

44 phyric phenotype of mice with erythropoietic protoporphyria (EPP).

45 te for the inherited disorder erythropoietic protoporphyria (EPP).

46 n the human inherited disease erythropoietic protoporphyria (EPP).

47 vel mutations associated with erythropoietic protoporphyria: g(+ 1)-->t transversion of the exon 4 do

48 Patients with protoporphyria have decreased ferrochelatase activities

49 exon 10 deletion, a common mutation in human protoporphyria, introduced into the mouse by gene target

50 The enzymatic defect of protoporphyria is a deficiency in ferrochelatase, which

51 Erythropoietic protoporphyria is a genetic disease in which ferrochelat

52 Protoporphyria is a genetic disorder in which a deficien

53 Protoporphyria is a metabolic disease that causes excess

54 Erythropoietic protoporphyria is a severe photodermatosis that is assoc

55 Human erythropoietic protoporphyria is an inherited disorder of the heme meta

56 Protoporphyria is generally inherited as an autosomal do

57 ity of normal-size ferrochelatase protein in protoporphyria liver compared with normal liver (19-51%,

58 exogenous PP-IX (mimicking XLP extrahepatic protoporphyria) or with the iron chelator deferoxamine a

59 Erythropoietic protoporphyria patients needing LT should be considered

60 Similar to patients with protoporphyria, PP-IX is excreted through the biliary sy

61 e a mutated ferrochelatase gene resulting in protoporphyria that models the hepatic injury occurring

62 Using a mouse model of erythropoietic protoporphyria, we demonstrate here that ex vivo presele

63 ites in the EPP phenocopy, X-linked dominant protoporphyria, which has elevated substrate, and normal

64 brafish larvae provides a new model of acute protoporphyria with consequent hepatocyte protein aggreg

65 precursor-inducible zebrafish model of acute protoporphyria with hepatic protein aggregation and mult

66 mice exhibiting griseofulvin-induced hepatic protoporphyria with induction and destruction of cytochr

67 0 individuals with manifested erythropoietic protoporphyria with or without a known mutation.

68 hropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare photodermatoses presenting

69 ic protoporphyria (EPP) or X-linked-dominant protoporphyria (XLP) cause liver damage.