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Sideroblastic Anemia: Molecular Analysis of the ALAS2 Gene in a Series of 29 Probands and Functional Studies of 10 Missense Mutations [PDF]

Human Mutation, 2011
X-linked Sideroblastic Anemia (XLSA) is the most common genetic form of sideroblastic anemia, a heterogeneous group of disorders characterized by iron deposits in the mitochondria of erythroid precursors.
Hervé Puy, Jean-Charles Deybach, Christiane Vermylen   +2 more
exaly   +2 more sources

Sideroblastic Anemia: Functional Study of Two Novel Missense Mutations in ALAS2

Molecular Genetics & Genomic Medicine, 2016
X-linked sideroblastic anemia (XLSA) is a disorder characterized by decreased heme synthesis and mitochondrial iron overload with ringed sideroblasts in bone marrow.
Manuel Méndez, Maria Jose Morán
exaly   +2 more sources

Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.

Blood Cells, Molecules & Diseases, 2017
The most frequent germline mutations responsible for non syndromic congenital sideroblastic anemia are identified in ALAS2 and SLC25A38 genes. Iron overload is a key issue and optimal chelation therapy should be used to limit its adverse effects on the ...
Marie-Amelyne Le Rouzic, C. Fouquet, T. Leblanc, M. Touati, F. Fouyssac, C. Vermylen, N. Jäkel, J. Guichard, K. Maloum, F. Toutain, P. Lutz, Y. Pérel, H. Manceau, C. Kannengiesser, J. Vannier   +14 more
semanticscholar   +2 more sources

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Electron detachment energies of AlAs− and AlAs2−

Chemical Physics Letters, 2002
Abstract The ground and low-lying excited states of AlAs − , AlAs, AlAs 2 − , and AlAs 2 are studied using DFT and CCSD(T) approximation. AlAs − has a 2 Σ + ground state with a 2 Π state 1.08 kcal/mol above. AlAs has a 3 Σ − ground state with the lowest 3 Π and 1 Σ + states at 2.
Edet F. Archibong, Alain St-Amant
openaire   +1 more source

New Mutation in ALAS2 as the Cause of X-Linked Sideroblastic Anemia Responsive to Pyridoxine: Comparison of ALAS2-Defective and DMT1-Defective BFU-E Growth.

Blood, 2009
Abstract Abstract 4051 Poster Board III-986 Congenital sideroblastic anemias (SA) are hypochromic microcytic anemias with secondary iron overload. Local iron accumulation in mitochondria results in the formation of ringed sideroblasts in the bone marrow. Defects in heme synthesis, Fe-S cluster biogenesis and
Jana Kucerova, Monika Horvathova, Petra Belohlavkova, Jaroslav Cermak, Vladimir Divoky   +4 more
openaire   +2 more sources

Novel mutations in the ALAS2 gene from patients with X‐linked sideroblastic anemia

International Journal of Laboratory Hematology, 2020
Jing Li, Long Chen, Ya-Ni Lin, K. Ru
semanticscholar   +3 more sources

X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation

Journal of Pediatric Hematology/Oncology, 2017
Dimorphism in peripheral blood film was noted in a 16 year old Malay boy with anemia who was eventually diagnosed with X-linked sideroblastic anemia. A mutation in ALAS2 S568G was identified which has not been described previously in a Malay ethnic group.
Thomas A K, Susanto, Rajat, Bhattacharyya   +1 more
openaire   +2 more sources

[Knockdown of ALAS2 Affects Erythroid Differentiation by Down-regulating Mitophagy Receptor BNIP3L].

Zhongguo shi yan xue ye xue za zhi, 2020
AbstractObjective: To investigate the effect of ALAS2 downregulation on the expression of BNIP3L and erythroid differentiation in K562 cells.The expression of ALAS2 was down-regulated by transfection of lentivirus, then quantitative real-time PCR was performed to detect the transfection efficiency.
Shu-Ting Hu, Xin-Yu Li, Han Chen, Lyu-hong Xu, Jian-Pei Fang   +4 more
semanticscholar   +3 more sources

Spectroscopic properties for Al2As, AlAs2, and their ions

Journal of Molecular Structure: THEOCHEM, 2003
Abstract Density functional theory (DFT:B3LYP) and complete active space multiconfiguration self-consistent field (CASSCF) calculations are performed on the low-lying electronic states of AlAs 2 , Al 2 As, and their ions. The optimized geometries of the electronic states of these clusters at the DFT level are found to be close to the results at the ...
openaire   +1 more source

A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia

Human Genetics, 1995
X-linked sideroblastic anemia is a genetic disorder characterized by a hypochromic microcytic anemia of variable intensity with the presence of ring sideroblasts in the bone marrow of the patients. Two different mutations have been reported in the ALAS2 gene in patients with this disease. We have studied a large kindred with a pyridoxine-sensitive form
E, Prades, C, Chambon, T A, Dailey, H A, Dailey, J, Brière, B, Grandchamp   +5 more
openaire   +2 more sources