Results 31 to 40 of about 7,531,846 (135)

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

Tolerability of hormonal treatments in acute hepatic porphyria patients. [PDF]

Intern Med J
Abstract Background Acute hepatic porphyria (AHP) flares have been associated with female hormones and the use of hormonal treatments. Women with AHP are traditionally advised to avoid exogenous oestrogen and progesterone, limiting options for contraception and management of menorrhagia, dysmenorrhoea and menopausal symptoms.
Arandjelovic A, Ross C, Ross G.
europepmc   +2 more sources

Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release. [PDF]

Biochemistry, 2015
Regulation of 5-aminolevulinate synthase (ALAS) is at the origin of balanced heme production in mammals. Mutations in the C-terminal region of human erythroid-specific ALAS (hALAS2) are associated with X-linked protoporphyria (XLPP), a disease ...
Fratz EJ, Clayton J, Hunter GA, Ducamp S, Breydo L, Uversky VN, Deybach JC, Gouya L, Puy H, Ferreira GC.   +9 more
europepmc   +2 more sources

X-linked dominant protoporphyria: a new porphyria

Clinical and Experimental Dermatology, 2014
Summary X-linked dominant protoporphyria (XLDPP) was first reported in the genetics literature in 2008. It has a phenotype very similar to erythropoietic protoporphyria (EPP), but is distinguished from EPP by higher concentrations of erythrocyte protoporphyrin (of which a high proportion is zinc-chelated), its apparently higher incidence
M J, Seager, S D, Whatley, A V, Anstey, T P, Millard   +3 more
openaire   +2 more sources

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

Empowering children and young people with Erythropoietic Protoporphyria (EPP)/X-linked Erythropoietic Protoporphyria (XLP): Outcomes of attending a disease-specific residential camp

Erythropoietic Protoporphyria (EPP) and X‑linked Erythropoietic Protoporphyria (XLP) are rare photodermatoses that severely restrict children’s participation in outdoor activities and contribute to anxiety, isolation and reduced quality of life. The British Porphyria Association (BPA) Alfresco Residential camp 2024 was developed to provide a medically ...
Victoria Anne McGuire, Samuel Morrison, Georgia Newman, Sue Burrell, Claire Jarvis, Liz Gill   +5 more
openaire   +2 more sources

Pyridoxine Response in Mouse Alas2 Knock-in Models of X-Linked Sideroblastic Anemia and X-Linked Protoporphyria

Blood, 2021
Abstract Introduction. Pyridoxal 5' Phosphate (PLP) is the cofactor form of vitamin B6 in ~60 human enzymes. The first enzyme of the heme biosynthesis pathway, delta-aminolevulinic acid synthase (ALAS), that catalyzes the condensation of glycine and succinyl-CoA to form 5-ALA the sole precursor of porphyrins and heme, is ...
Sarah Ducamp, Paul J Schmidt, Dean R Campagna, Mark D. Fleming   +3 more
openaire   +1 more source

Dersimelagon in Erythropoietic Protoporphyrias

, 2023
In a phase 2 trial, once-daily oral treatment with dersimelagon safely improved tolerance to sun exposure in patients with erythropoietic protoporphyria and X-linked ...
Bissell, D. Montgomery, Bonkovsky, Herbert L., Anderson, Karl E., Balwani, Manisha, Levy, Cynthia, Takahashi, Fumihiro, Desnick, Robert J., Endeavor Investigators, Belongie, Kirstine, Parker, Charles   +9 more
core   +1 more source

X-linked dominant protoporphyria in a Chinese pedigree reveals a four-based deletion of ALAS2 [PDF]

Annals of Translational Medicine, 2020
X-linked dominant protoporphyria (XLDPP) is a rare, hereditary disorder that leads to hepatobiliary and hematologic abnormalities including increased erythrocyte protoporphyrin, cutaneous photosensitivity, and decreased iron stores that is caused by a pathogenic mutation of ALAS2 gene.This study aimed to confirm the existence of XLDPP in a Chinese ...
Wang, Tao, Wang, Yongwei, Dong, Qi, Xu, Chenchen, Zhou, Xiping, Ouyang, Yunshu, Liu, Yaping, Lee, Jonathan J., Hu, Nina, Wang, Kevin, Zdravkovic, Tanja Prunk, Shen, Jun, Nie, Guangjun, Lian, Christine G., Liu, Yuehua   +14 more
openaire   +2 more sources