Results 21 to 30 of about 1,366 (166)

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

Annals of Translational Medicine, 2020
Background 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 ...
Tao Wang, Yong-wei Wang, Qingyang Dong, Chen-Chen Xu, Xi-Ping Zhou, Y. Ouyang, Ya-Ping Liu, Jonathan J. Lee, Nina Hu, K. Wang, Tanja Prunk Zdravković, Jun Shen, Guangjun Nie, Christine G. Lian, Yue-Hua Liu   +14 more
semanticscholar   +3 more sources

Elucidating the Role of Human ALAS2 C-terminal Mutations Resulting in Loss of Function and Disease

Biochemistry
The conserved enzyme aminolevulinic acid synthase (ALAS) initiates heme biosynthesis in certain bacteria and eukaryotes by catalyzing the condensation of glycine and succinyl-CoA to yield aminolevulinic acid.
Jessica L. Taylor, Pedro H. Ayres-Galhardo, Breann L. Brown   +2 more
semanticscholar   +3 more sources

Genotype–Phenotype Correlation in a Couple in Which the Wife Is a Carrier of the Beta-Thalassemia Trait and the Husband Is a Carrier of a Mutation in the ALAS2 Gene: Both Gene Defects Are Associated with Non-Iron-Deficiency Microcytic Anemia

Thalassemia Reports
Introduction: Generally, microcytic anaemia is caused by sideropenia or a genetic gap. The suspicion that microcytic anaemia is caused by a genetic gap must always be considered in the face of an inadequate response to martial therapy.
Domenico Dell’Edera, Carmela Centoducati, Arianna Allegretti, Francesco La Rocca, Brunilde Persia   +4 more
doaj   +2 more sources

Case Report: A Previously Healthy Young Woman With Lethal, Unremitting Metabolic Acidosis: Could a Novel Variant in ALAS2 Be the Culprit?

Case Reports in Pathology
Background Heme synthesis is critical for several biological processes, including mitochondrial energy production and oxygen delivery via hemoglobin. The initial and rate‐limiting step in heme synthesis is the conjugation of glycine with succinyl‐CoA to ...
Greg Brown, Stephen Brown
semanticscholar   +2 more sources

Analysis of mRNA Expression Patterns in Peripheral Blood Cells of 3 Patients With Cancer After the First Fraction of 2 Gy Irradiation: An Integrated Case Report and Systematic Review

Dose-Response, 2019
Background: Radiation therapy induces acute and chronic radiological toxicity, in particular hematological toxicity (HT). This study aimed to explore the mechanistic clue and potential predictors at the messenger RNA (mRNA) level.
Yue-Hua Nie, Xiao-Dan Liu, Ruixue Huang, Da-Fei Xie, Wen-Jun Yin, Hua Guan, Zi-Jian Yu, Ping-Kun Zhou   +7 more
doaj   +2 more sources

From Deficiency to Therapy: Systemic Consequences of ALAS1 Disruption and the Protective Role of 5-ALA

Life
Heme, an essential prosthetic group involved in mitochondrial respiration and transcriptional regulation, is synthesized via the rate-limiting enzyme 5-aminolevulinic acid synthase (ALAS).
Koen van Wijk, Osamu Nakajima
doaj   +2 more sources

ALAS2 overexpression alleviates oxidative stress-induced ferroptosis in aortic aneurysms via GATA1 activation

Journal of Thoracic Disease
Background Aortic aneurysm, characterized by abnormal dilation of the aorta, poses significant health risks. This study aims to investigate the interaction between 5-aminolevulinate synthase 2 (ALAS2) and GATA-binding protein 1 (GATA1) in ferroptosis and
Yun-yun He, Xiao-Hui Wang, Dong-Lin Li, Qian-Qian Zhu, Yi-Lang Xiang, Yang-Yan He, Hong-Kun Zhang   +6 more
semanticscholar   +3 more sources

Gene Expression of ALAS2 in Patients With Iron Deficiency Anemia: A Case-Control Study in Najaf Governorate, Iraq

International Journal of Environmental and Biological Sciences
Background: IDA (iron deficiency anemia) is a major public health issue that is very common in underdeveloped countries. It occurs if the number of erythropoiesis is inhibited due to insufficient iron needed for hemoglobin synthesis.
Majida Hameed Obaida
exaly   +2 more sources

Intron 1 GATA site enhances ALAS2 expression indispensably during erythroid differentiation [PDF]

Nucleic Acids Research, 2016
The first intronic mutations in the intron 1 GATA site (int-1-GATA) of 5-aminolevulinate synthase 2 (ALAS2) have been identified in X-linked sideroblastic anemia (XLSA) pedigrees, strongly suggesting it could be causal mutations of XLSA.
Ying-Chi Zhang, Jing-Liao Zhang, W. An, Y. Wan, Shi-Hui Ma, Jie Yin, Xi-Chuan Li, Jie Gao, W. Yuan, Ye Guo, J. D. Engel, Lihong Shi, T. Cheng, Xiao-Fan Zhu   +13 more
semanticscholar   +3 more sources

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