Results 31 to 40 of about 3,099 (193)

The role of ClpX in erythropoietic protoporphyria

Hematology, Transfusion and Cell Therapy, 2018
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.
Jared C. Whitman, Barry H. Paw, Jacky Chung   +2 more
doaj   +1 more source

Absorption, metabolism, and excretion of [14C]dersimelagon, an investigational oral selective melanocortin 1 receptor agonist, in preclinical species and healthy volunteers

Pharmacology Research & Perspectives, 2023
Dersimelagon (formerly MT‐7117) is a novel, orally administered nonpeptide small molecule selective agonist for melanocortin 1 receptor currently being investigated for the treatment of erythropoietic protoporphyria, X‐linked protoporphyria, and diffuse ...
Minoru Tsuda, Kei Ogawa, Tadashi Endou, Takahiro Goto, Yuko Ogasawara, Akihito Ogasawara   +5 more
doaj   +1 more source

Erythropoietic Protoporphyria in a Japanese Population

Acta Dermato-Venereologica, 2019
Erythropoietic protoporphyria is caused by a partial deficiency of ferrochelatase, which is the last enzyme in the heme biosynthesis pathway. In a typical erythropoietic protoporphyria, photosensitivity initially appears, following the first exposure to ...
Megumi Mizawa, Teruhiko Makino, Hajime Nakano, Daisuke Sawamura, Tadamichi Shimizu   +4 more
doaj   +1 more source

Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria

Molecular Genetics and Metabolism Reports, 2019
Erythropoietic protoporphyria (EPP) is an autosomal recessive deficiency in heme biosynthesis due to pathogenic variants in the ferrochelatase gene (FECH). Patients present with lifelong photosensitivity and potential liver disease.
Michele C. Kieke, Jacob Klemm, Arthur Rech Tondin, Victor Alencar, Nathan Johnson, Ashley M. Driver, Thomas Lentz, Gregory J. Fischer, Diane A. Caporale, Luke J. Drury   +9 more
doaj   +1 more source

Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria [PDF]

, 2017
Loss-of-function mutations in genes for heme biosynthetic enzymes can give rise to congenital porphyrias, eight forms of which have been described. The genetic penetrance of the porphyrias is clinically variable, underscoring the role of additional ...
Baker, Tania, Bergonia, Hector A., Ducamp, Sarah, Gouya, Laurent, Kafina, Martin D., Kannengiesser, Caroline, Kardon, Julia R., Karim, Zoubida, Manceau, Hana, Nicolas, Gaël, Paw, Barry H., Phillips, John D., Puy, Hervé, van der Vorm, Lisa N., Yien, Yvette Y.   +14 more
core   +3 more sources

Photodermatoses in Children [PDF]

JDVI (Journal of General Procedural Dermatology & Venereology Indonesia), 2017
Photodermatoses cover the skin’s abnormal reactions to sunlight, usually to its ultraviolet (UV) component or visible light. Etiologically, photodermatoses can be classified into 4 categories: (1) immunologically mediated photodermatoses (idiopathic ...
Siti Nurani Fauziah, Wresti Indriatmi, Lili Legiawati   +2 more
doaj   +1 more source

Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria

Diagnostics, 2022
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inherited disorders resulting from defects in two different enzymes of the heme biosynthetic pathway, i.e., ferrochelatase (FECH) and delta-aminolevulinic acid synthase-2 (ALAS2 ...
Elena Di Pierro, Francesca Granata, Michele De Canio, Mariateresa Rossi, Andrea Ricci, Matteo Marcacci, Giacomo De Luca, Luisa Sarno, Luca Barbieri, Paolo Ventura, Giovanna Graziadei   +10 more
doaj   +1 more source

Patient-recorded outcome to assess therapeutic efficacy in protoporphyria-induced dermal phototoxicity: a proposal [PDF]

, 2010
Background Protoporphyria (PP) resulting from two rare, inherited diseases of heme biosynthesis leads to dermal phototoxicity by accumulation of the heme precursor protoporphyrin IX.
Elisabeth I Minder, Xiaoye Schneider-Yin, Christoph E Minder   +2 more
core   +1 more source

The diagnosis and management of porphyria cutanea tarda (PCT)

South African Family Practice, 2009
The porphyrias are a group of disorders in which excessive quantities of porphyrins or their precursors are produced. They are due to abnormalities in the control of the porphyrin-haem metabolic pathway.
Mojakgomo H. Motswaledi
doaj   +1 more source

Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay

Metabolites, 2021
Erythropoietic porphyrias are caused by enzymatic dysfunctions in the heme biosynthetic pathway, resulting in porphyrins accumulation in red blood cells.
Antoine Poli, Caroline Schmitt, Boualem Moulouel, Arienne Mirmiran, Hervé Puy, Thibaud Lefèbvre, Laurent Gouya   +6 more
doaj   +1 more source