porphyrias/protease

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[The protease inhibitor (Pi) system and porphyria cutanea tarda].

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Ingia / Ingia

[The HLA and protease inhibitor (Pi) system in erythropoietic (hepatic) protoporphyria. Family studies].

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Ingia / Ingia

Relations between porphyrias (porphyria cutanea tarda, variegate porphyria) and HLA- or protease inhibitor (Pi-) system were repeatedly found or supposed. Corresponding investigations do not exist for erythropoietic protoporphyria (EP), for which an autosomal dominant mode of inheritance with highly

Mechanisms of phototoxicity in porphyria cutanea tarda and erythropoietic protoporphyria.

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Ingia / Ingia

The porphyrias are the only group of diseases caused by endogenous phototoxic agents. While patients with erythropoietic protoporphyria and those with porphyria cutanea tarda both have skin lesions on sun-exposed areas, there are differences in their cutaneous manifestations. Based on information

Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias.

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Ingia / Ingia

Recently, new genes and molecular mechanisms have been identified in patients with porphyrias and sideroblastic anemias (SA). They all modulate either directly or indirectly the δ-aminolevulinic acid synthase (ALAS) activity. ALAS, is encoded by two genes: the erythroid-specific (ALAS2), and the

The role of ClpX in erythropoietic protoporphyria.

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Ingia / Ingia

Hemoglobin is an essential biological component of human physiology and its production in red blood cells relies upon proper biosynthesis of heme and globin protein. Disruption in the synthesis of these precursors accounts for a number of human blood disorders found in patients. Mutations in genes

Mild iron deficiency does not ameliorate the phenotype of a murine erythropoietic protoporphyria model.

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Ingia / Ingia

Reduced ferrochelatase activity in erythropoietic protoporphyria (EPP) causes the accumulation of protoporphyrin IX (PPIX) leading to acute cutaneous photosensitivity and liver injury. Many EPP patients also have a mild hypochromic, microcytic anemia and iron deficiency. Iron deficiency can lead to

Lon peptidase 1 (LONP1)-dependent breakdown of mitochondrial 5-aminolevulinic acid synthase protein by heme in human liver cells.

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Ingia / Ingia

5-Aminolevulinic acid synthase (ALAS-1) is the first rate controlling enzyme that controls cellular heme biosynthesis. Negative feedback regulation of ALAS-1 by the end product heme is well documented and provides the foundation for heme treatment of acute porphyrias, a group of diseases caused by

Course and outcome of hepatitis C.

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Ingia / Ingia

The hepatitis C virus (HCV) is a small enveloped RNA virus belonging to the family flaviviridae and genus hepacivirus. The HCV RNA genome is 9,600 nucleotides in length and encodes a single polyprotein that is post-translationally cleaved into 10 polypeptides including t3 structural (C, E1, and E2)

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