| 1 |
35054318 | Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria. | 2022 Jan 8 |
2 |
| 2 |
33659185 | Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy. | 2021 Jun |
1 |
| 3 |
34492704 | The immunometabolite itaconate inhibits heme synthesis and remodels cellular metabolism in erythroid precursors. | 2021 Dec 14 |
2 |
| 4 |
34940556 | Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay. | 2021 Nov 23 |
1 |
| 5 |
32499479 | Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release. | 2020 Jun 4 |
1 |
| 6 |
32678895 | Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria. | 2020 Nov 19 |
2 |
| 7 |
30098397 | Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia. | 2019 Mar |
1 |
| 8 |
30678654 | Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants. | 2019 Jan 24 |
2 |
| 9 |
30737140 | Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias. | 2019 Nov |
2 |
| 10 |
30765471 | Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis. | 2019 Sep |
1 |
| 11 |
31059917 | Benzo[a]pyrene is associated with dysregulated myelo-lymphoid hematopoiesis in asthmatic children. | 2019 Jul |
1 |
| 12 |
31076252 | Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyria. | 2019 Nov |
1 |
| 13 |
31395332 | Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria. | 2019 Nov |
2 |
| 14 |
29991557 | Glutamine via α-ketoglutarate dehydrogenase provides succinyl-CoA for heme synthesis during erythropoiesis. | 2018 Sep 6 |
1 |
| 15 |
30305500 | [Molecular pathophysiology of sideroblastic anemia]. | 2018 |
1 |
| 16 |
28118224 | Acute hepatic and erythropoietic porphyrias: from ALA synthases 1 and 2 to new molecular bases and treatments. | 2017 May |
1 |
| 17 |
26487704 | Gene transcripts associated with muscle strength: a CHARGE meta-analysis of 7,781 persons. | 2016 Jan |
1 |
| 18 |
26698166 | Mechanism governing heme synthesis reveals a GATA factor/heme circuit that controls differentiation. | 2016 Feb |
6 |
| 19 |
26702583 | Mitochondrial Hspa9/Mortalin regulates erythroid differentiation via iron-sulfur cluster assembly. | 2016 Jan |
1 |
| 20 |
25179834 | In ferrochelatase-deficient protoporphyria patients, ALAS2 expression is enhanced and erythrocytic protoporphyrin concentration correlates with iron availability. | 2015 Jan |
1 |
| 21 |
25482442 | Aminolevulinate synthase 2 mediates erythrocyte differentiation by regulating larval globin expression during Xenopus primary hematopoiesis. | 2015 Jan 2 |
1 |
| 22 |
26231844 | Increased Heme Levels in the Heart Lead to Exacerbated Ischemic Injury. | 2015 Jul 31 |
3 |
| 23 |
26300302 | Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release. | 2015 Sep 15 |
2 |
| 24 |
26605136 | Murine erythroid 5-aminolevulinate synthase: Adenosyl-binding site Lys221 modulates substrate binding and catalysis. | 2015 |
1 |
| 25 |
23935018 | Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia. | 2014 Feb |
2 |
| 26 |
24166784 | X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. | 2014 Mar |
2 |
| 27 |
25450364 | Effect of 5-aminolevulinic acid on erythropoiesis: a preclinical in vitro characterization for the treatment of congenital sideroblastic anemia. | 2014 Nov 7 |
2 |
| 28 |
23500306 | Heme levels are increased in human failing hearts. | 2013 May 7 |
4 |
| 29 |
24003969 | Pathophysiology and genetic mutations in congenital sideroblastic anemia. | 2013 Dec |
1 |
| 30 |
24135682 | Annular elastolytic giant cell granuloma associated to late-onset X-linked dominant protoporphyria. | 2013 |
2 |
| 31 |
21252495 | New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine. | 2011 |
1 |
| 32 |
21653323 | ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. | 2011 Aug 11 |
2 |
| 33 |
21750082 | Oxidative stress modulates heme synthesis and induces peroxiredoxin-2 as a novel cytoprotective response in β-thalassemic erythropoiesis. | 2011 Nov |
2 |
| 34 |
20848343 | Hereditary sideroblastic anemia: pathophysiology and gene mutations. | 2010 Oct |
1 |
| 35 |
20850938 | [Inheritance in erythropoietic protoporphyria]. | 2010 Oct |
1 |
| 36 |
21348241 | [Recent progress in iron metabolism and iron-related anemia]. | 2010 Dec |
1 |
| 37 |
19786205 | Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment. | 2009 Oct |
2 |
| 38 |
18669654 | GATA transcription factors directly regulate the Parkinson's disease-linked gene alpha-synuclein. | 2008 Aug 5 |
1 |
| 39 |
18760763 | C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. | 2008 Sep |
1 |
| 40 |
17192398 | Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. | 2007 Apr 15 |
1 |
| 41 |
17485548 | The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload. | 2007 Aug 15 |
1 |
| 42 |
17768398 | A critical role for the co-repressor N-CoR in erythroid differentiation and heme synthesis. | 2007 Sep |
1 |
| 43 |
16904069 | Histone acetyltransferase p300 regulates the transcription of human erythroid-specific 5-aminolevulinate synthase gene. | 2006 Sep 29 |
1 |
| 44 |
16234850 | Erythroid-specific 5-aminolevulinate synthase protein is stabilized by low oxygen and proteasomal inhibition. | 2005 Oct |
1 |
| 45 |
14643893 | The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis. | 2004 Feb |
2 |
| 46 |
12393745 | Hypoxic up-regulation of erythroid 5-aminolevulinate synthase. | 2003 Jan 1 |
1 |
| 47 |
12382202 | The genetics of inherited sideroblastic anemias. | 2002 Oct |
1 |
| 48 |
10727444 | Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia. | 2000 Mar |
1 |
| 49 |
11039663 | Animal models for X-linked sideroblastic anemia. | 2000 Aug |
2 |
| 50 |
10582344 | Regulation of erythroid 5-aminolevulinate synthase expression during erythropoiesis. | 1999 Oct |
1 |