Výsledky vyhledávání - "Vassili Tchaikovskii"

Akademický článek

Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants

Autor: Vassili Tchaikovskii, Robert J. Desnick, David F. Bishop

Publikováno v: Molecular Medicine, Vol 25, Iss 1, Pp 1-9 (2019)

Abstract Background X-linked protoporphyria (XLP) (MIM 300752) is an erythropoietic porphyria due to gain-of-function mutations in the last exon (Ducamp et al., Hum Mol Genet 22:1280-88, 2013) of the erythroid-specific aminolevulinate synthase gene (

Externí odkaz: https://doaj.org/article/a7ef3a05609f473eb8a0a531bf25927c

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Akademický článek

Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria

Autor: David F. Bishop, Vassili Tchaikovskii, Irina Nazarenko, Robert J. Desnick

Publikováno v: Molecular Medicine, Vol 19, Iss 1, Pp 18-25 (2013)

Abstract X-linked protoporphyria (XLP) (MIM 300752) is a recently recognized erythropoietic porphyria due to gain-of-function mutations in the erythroid-specific aminolevulinate synthase gene (ALAS2). Previously, two exon 11 small deletions, c.1699_1

Externí odkaz: https://doaj.org/article/fa79fb16070242f1a71b134205799c13

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X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation

Autor: Leif S. Ludwig, Jacob C. Ulirsch, Rafael Bejar, R. Coleman Lindsley, Vijay G. Sankaran, Senkottuvelan Kadirvel, Vassili Tchaikovskii, Jiahai Shi, Aoi Wakabayashi, David P. Steensma, David F. Bishop, Scott B. Lovitch

Publikováno v: Journal of Clinical Investigation. 130:552-552

Macrocytic anemia with abnormal erythropoiesis is a common feature of megaloblastic anemias, congenital dyserythropoietic anemias, and myelodysplastic syndromes. Here, we characterized a family with multiple female individuals who have macrocytic ane

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de185c8462e63f310581bb673e769784
https://doi.org/10.1172/jci132538

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Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants

Autor: David F. Bishop, Vassili Tchaikovskii, Robert J. Desnick

Publikováno v: Molecular Medicine
Molecular Medicine, Vol 25, Iss 1, Pp 1-9 (2019)

Background X-linked protoporphyria (XLP) (MIM 300752) is an erythropoietic porphyria due to gain-of-function mutations in the last exon (Ducamp et al., Hum Mol Genet 22:1280-88, 2013) of the erythroid-specific aminolevulinate synthase gene (ALAS2). F

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcac5ad1ae288da13ce57f48c84d71b3
https://pubmed.ncbi.nlm.nih.gov/30678654

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Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria

Autor: Robert J. Desnick, David F. Bishop, Irina Nazarenko, Vassili Tchaikovskii

Publikováno v: Molecular Medicine. 19:18-25

X-linked protoporphyria (XLP) (MIM 300752) is a recently recognized erythropoietic porphyria due to gain-of-function mutations in the erythroid-specific aminolevulinate synthase gene (ALAS2). Previously, two exon 11 small deletions, c.1699_1670ΔAT (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7536799e3ed05e91f3fdd8c0801ceea2
https://doi.org/10.2119/molmed.2013.00003

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X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2)

Autor: A. Victor Hoffbrand, Marie E. Fraser, David F. Bishop, Vassili Tchaikovskii, Steven Margolis

Publikováno v: The Journal of biological chemistry. 287(34)

Mutations in the erythroid-specific aminolevulinic acid synthase gene (ALAS2) cause X-linked sideroblastic anemia (XLSA) by reducing mitochondrial enzymatic activity. Surprisingly, a patient with the classic XLSA phenotype had a novel exon 11 mutatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67d6c480eec8b1a8fae9464ee3a5542c
https://pubmed.ncbi.nlm.nih.gov/22740690

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