Results 121 to 130 of about 4,768 (212)

Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect

Frontiers in Pediatrics
Erythropoietic protoporphyria (EPP) is an autosomal recessive disorder of the heme biosynthesis pathway caused by pathogenic variants in FECH gene resulting in a decreased activity of ferrochelatase.
Patryk Lipiński, Agnieszka Lipniacka, Maja Klaudel-Dreszler, Lidia Ziółkowska, Grażyna Kostrzewa, Edyta Odnoczko, Robert Wasilewski, Rafał Płoski, Anna Tylki-Szymańska   +8 more
doaj   +1 more source

Structure model of ferrochelatase from Salmonella Typhi elucidating metalation mechanism

, 2019
A homology model of ferrochelatase (HemH), the heme biosynthesis terminal step enzyme from Salmonella Typhi was generated to understand the mechanism of metal insertion into protoporphyrin IX for heme biosynthesis. The overall fold of membrane associated
Kumar, Manoj, Kaur, Punit, Ethayathulla, Abdul S, Bansal, Rohit, Yadav, Prakarsh   +4 more
core   +1 more source

Zebrafish dracula encodes ferrochelatase and its mutation provides a model for erythropoietic protoporphyria

, 2000
Exposure to light precipitates the symptoms of several genetic disorders that affect both skin and internal organs. It is presumed that damage to non-cutaneous organs is initiated indirectly by light, but this is difficult to study in mammals.
Herbert Bonkovsky, Bonkovsky, Herbert, Mohideen, Manzoor-Ali P.K., Fishman, Mark C., Manzoor-Ali P.K. Mohideen, Susan Donohue, Weinstein, Brant M., Sarah Childs, Mark C. Fishman, Brant M. Weinstein, Childs, Sarah, Donohue, Susan   +11 more
core   +1 more source

Erythropoietic protoporphyria and early onset of cholestasis

The Turkish Journal of Pediatrics, 2012
Erythropoietic protoporphyria (EPP) is an inherited defect of mitochondrial ferrochelatase. This defect results in accumulation of protoporphyrin in erythrocytes, plasma, liver, and skin, which causes severe photosensitivity.
Mani Jeh Khalili, Fatemeh Farahmand, Armin Hirbod-Mobarakeh, Azizollah Yousefi, Soheila Sotoudeh, Maryam Monajemzadeh, Anahita Razaghian, Nima Rezaei   +7 more
doaj  

Structures of catalytic residues of human ferrochelatase and results of prediction.

, 2012
(A) Structures of catalytic residues, H263, H341, and E343, of human ferrochelatase (PDB id: 1 hrk). Side chain structures of the catalytic residues are shown as ball-and-stick.
Shao-Wei Huang (125737), Yu-Tung Chien (125735)   +1 more
core   +1 more source

Structural and physicochemical studies on metal and porphyrin binding by the Bacillus subtilis ferrochelatase

, 2009
The enzyme ferrochelatase (EC 4.99.1.1) is the terminal enzyme in the biosynthetic pathway of heme b and catalyzes the insertion of Fe(II) into protoporphyrin IX. In this dissertation ferrochelatase from Bacillus subtilis was studied.
Hansson, Mattias
core   +1 more source

The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria

JAAD Case Reports, 2017
Megumi Mizawa, MD, PhD, Teruhiko Makino, MD, PhD, Fumina Furukawa, MD, Ryotaro Torai, MD, Hajime Nakano, MD, PhD, Daisuke Sawamura, MD, PhD, Tadamichi Shimizu, MD, PhD   +6 more
doaj   +1 more source

Studies on ferrochelatase. 1. Assay and properties of ferrochelatase from a pig-liver mitochondrial extract [PDF]

Biochemical Journal, 1963
R J, PORRA, O T, JONES
openaire   +2 more sources

Ferrochelatase [PDF]

, 2018
openaire   +2 more sources

Proteomics dataset of liver tissue from spinal muscular atrophy, heterozygous, and wild-type mice, enabling pathway identification. [PDF]

Data Brief
Vrettou S, Müller S, Wirth B.
europepmc   +1 more source