Results 101 to 110 of about 1,366 (166)

Heme Regulates Exocrine Peptidase Precursor Genes in Zebrafish [PDF]

, 2007
We previously determined that yquem harbors a mutation in the gene encoding uroporphyrinogen decarboxylase (UROD), the fifth enzyme in heme biosynthesis, and established zebrafish yquem (yqetp61) as a vertebrate model for human hepatoery-thropoietic ...
Jason W. Kesinger, Chad Norris, Cammi Valdez, Qingchun Zhou, Han Wang   +4 more
core   +1 more source

Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation

, 2002
X-linked sideroblastic anemia (XLSA) is caused by mutations in the erythroid-specific 5-aminolevulinic acid synthase (ALAS2) gene. Hemizygous males have microcytic anemia and iron overload. A 38-year-old male presented with this phenotype (hemoglobin [Hb]
CAZZOLA, MARIO, Bishop DF, Bergamaschi G, Ferrillo S, Cerani P, May A   +5 more
core  

Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia

, 1995
The erythroid-specific isozyme of 5-aminolevulinate synthase (ALAS2), the first and ratelimiting enzyme of heme biosynthesis, is expressed concomitantly with the differentiation and maturation of the erythroid cell in order to accommodate generation of ...
Cox, T., Bishop, D., May, B., Bottomley, S., Cotter, P.   +4 more
core   +1 more source

Positional cloning of the zebrafish sauternes gene: A model for congenital sideroblastic anaemia

, 1998
Many human anaemias are caused by defects in haemoglobin synthesis. The zebrafish mutant sauternes (sau) has a microcytic, hypochromic anaemia, suggesting that haemoglobin production is perturbed.
Donovan, A., Paw, B. H., Oates, A. C., Sassa, S., Zon, L. I., Pratt, S. J., Witkowska, H. E., Brugnara, C., Brownlie, A., Stephen J. Pratt, Carlo Brugnara, Andrew C. Oates, Alison Brownlie, Leonard I. Zon, H. Ewa Witkowska, Shigeru Sassa, Adriana Donovan, Barry H. Paw   +17 more
core   +1 more source

Detection of Stimulated Erythropoiesis by the RNA-Based 5'-Aminolevulinate Synthase 2 Biomarker in Dried Blood Spot Samples.

, 2019
Despite implementation of the Athlete Biological Passport 10 years ago, blood doping remains difficult to detect. Thus, there is a need for new biomarkers to increase the sensitivity of the adaptive model.
Segura, J., Salamin, O., Gottardo, E., Leuenberger, N., Saugy, M., Kuuranne, T., Favrat, B., Schobinger, C., Reverter-Branchat, G., Tissot, J.D., Salamin O, Gottardo E, Saugy M, Tissot JD, Favrat B, Reverter-Branchat G, Leuenberger N, Segura J, Schobinger C, Kuuranne T   +19 more
core   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

BMSC-derived exosomal ANTXR1 inhibits erythroid differentiation by suppressing the TLR4/MyD88/NF-κB signaling pathway

Scientific Reports
Aplastic anemia (AA) is a bone marrow failure syndrome characterized by impaired hematopoiesis and a dysfunctional marrow microenvironment. Bone marrow-derived mesenchymal stem cell (BMSC)-derived exosomes play a crucial role in intercellular ...
Dengyun Chen, Liping Lin, Yibo Wu, Kunbo Huang, Hanhui Zhang, Qingqing Chen   +5 more
doaj   +1 more source

Regulation of erythroid 5-aminolevulinate synthase expression during erythropoiesis

, 1999
Erythroid tissue is the major site of heme production in the body. The synthesis of heme and globin chains is coordinated at both the transcriptional and post-transcriptional levels to ensure that virtually no free heme or globin protein accumulates. The
Sadlon, T., May, B., Surinya, K., Dell'Oso, T.   +3 more
core   +1 more source

Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity.

, 2006
Contains fulltext : 49456.pdf (Publisher’s version ) (Open Access)Mutations of the erythroid-specific 5-aminolaevulinate synthase (ALAS2) gene are known to be responsible for X-linked sideroblastic anaemia (XLSA).
Heller, T., Shibahara, S., Toru Shimizu, Nicole Blijlevens, Kuribara, T., Tadao Kuribara, Shimizu, T., Hamel, B.C.J., Furuyama, K., Kazumichi Furuyama, Shigeru Sassa, Harigae, H., Tom Heller, Shigeki Shibahara, Sassa, S., Minder, E.I., Blijlevens, N.M.A., Ben C. J. Hamel, Elisabeth I. Minder, Hideo Harigae   +19 more
core   +1 more source

Study on Human 5-Aminolaevulinate Synthase and the Molecular basis for Pyridoxine Responsive X-Linked Sideroblastic Anaemia

, 2001
5-Aminolaevulinic acid is the first precursor of haem biosynthesis and is formed by the condensation between glycine and succinyl-CoA in a reaction catalysed by 5-aminolaevulinic acid synthase (ALAS).
Aldaihan, Sooad K
core   +1 more source