Results 21 to 30 of about 634 (79)

Liver involvement in a large cohort of patients with erythropoietic protoporphyria or X-linked protoporphyria [PDF]

Hepatology Communications
Brendan Mcguire, Catherine Mcdonough
exaly   +2 more sources

Editorial: Ironome: a still untapped frontier [PDF]

Frontiers in Molecular Biosciences
Gloria C. Ferreira, Gloria C. Ferreira, Gloria C. Ferreira, Vladimir N. Uversky, Vladimir N. Uversky, Zoubida Karim   +5 more
doaj   +2 more sources

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

Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria

JAMA Dermatology, 2017
Robert Desnick, Jessica Overbey
exaly   +2 more sources

Melanogenic effect of dersimelagon (MT‐7117), a novel oral melanocortin 1 receptor agonist

Skin Health and Disease, 2022
Background The activation of melanocortin 1 receptor (MC1R) on melanocytes stimulates the production of eumelanin. A tridecapeptide α melanocyte‐stimulating hormone (αMSH) is known to induce skin pigmentation.
T. Suzuki, Y. Kawano, A. Matsumoto, M. Kondo, K. Funayama, S. Tanemura, M. Miyashiro, A. Nishi, K. Yamada, M. Tsuda, A. Sato, K. Morokuma, Y. Yamamoto   +12 more
doaj   +1 more source

An Extended C-Terminus, the Possible Culprit for Differential Regulation of 5-Aminolevulinate Synthase Isoforms

Frontiers in Molecular Biosciences, 2022
5-Aminolevulinate synthase (ALAS; E.C. 2.3.1.37) is a pyridoxal 5′-phosphate (PLP)-dependent enzyme that catalyzes the key regulatory step of porphyrin biosynthesis in metazoa, fungi, and α-proteobacteria.
Gregory A. Hunter, Gloria C. Ferreira, Gloria C. Ferreira, Gloria C. Ferreira   +3 more
doaj   +1 more source

Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release

Nature Communications, 2020
Mutation of the C-terminal extension of 5′-aminolevulinate synthase 2 (ALAS2) is the molecular cause for X-linked protoporphyria, but the underlying mechanism is unclear.
Henry J. Bailey, Gustavo A. Bezerra, Jason R. Marcero, Siladitya Padhi, William R. Foster, Elzbieta Rembeza, Arijit Roy, David F. Bishop, Robert J. Desnick, Gopalakrishnan Bulusu, Harry A. Dailey, Wyatt W. Yue   +11 more
doaj   +1 more source

Impact of delay in diagnosis in patients with erythropoietic protoporphyria: A cross-sectional survey study [PDF]

JAAD International
Karl Anderson, Amy Dickey, Sarina B Elmariah   +2 more
exaly   +2 more sources

Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias

Metabolites, 2014
Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias.
Siddesh Besur, Wehong Hou, Paul Schmeltzer, Herbert L. Bonkovsky   +3 more
doaj   +1 more source

Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants

Molecular Medicine, 2019
Background X-linked protoporphyria (XLP) (MIM 300752) is an erythropoietic porphyria due to gain-of-function mutations in the last exon (Ducamp et al., Hum Mol Genet 22:1280-88, 2013) of the erythroid-specific aminolevulinate synthase gene (ALAS2).
Vassili Tchaikovskii, Robert J. Desnick, David F. Bishop   +2 more
doaj   +1 more source