179 related articles for article (PubMed ID: 23348515)
1. Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria.
Bishop DF; Tchaikovskii V; Nazarenko I; Desnick RJ
Mol Med; 2013 Mar; 19(1):18-25. PubMed ID: 23348515
[TBL] [Abstract][Full Text] [Related]
2. Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP).
Ducamp S; Schneider-Yin X; de Rooij F; Clayton J; Fratz EJ; Rudd A; Ostapowicz G; Varigos G; Lefebvre T; Deybach JC; Gouya L; Wilson P; Ferreira GC; Minder EI; Puy H
Hum Mol Genet; 2013 Apr; 22(7):1280-8. PubMed ID: 23263862
[TBL] [Abstract][Full Text] [Related]
3. Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release.
Fratz EJ; Clayton J; Hunter GA; Ducamp S; Breydo L; Uversky VN; Deybach JC; Gouya L; Puy H; Ferreira GC
Biochemistry; 2015 Sep; 54(36):5617-31. PubMed ID: 26300302
[TBL] [Abstract][Full Text] [Related]
4. Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
Balwani M; Doheny D; Bishop DF; Nazarenko I; Yasuda M; Dailey HA; Anderson KE; Bissell DM; Bloomer J; Bonkovsky HL; Phillips JD; Liu L; Desnick RJ;
Mol Med; 2013 Apr; 19(1):26-35. PubMed ID: 23364466
[TBL] [Abstract][Full Text] [Related]
5. Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants.
Tchaikovskii V; Desnick RJ; Bishop DF
Mol Med; 2019 Jan; 25(1):4. PubMed ID: 30678654
[TBL] [Abstract][Full Text] [Related]
6. X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).
Bishop DF; Tchaikovskii V; Hoffbrand AV; Fraser ME; Margolis S
J Biol Chem; 2012 Aug; 287(34):28943-55. PubMed ID: 22740690
[TBL] [Abstract][Full Text] [Related]
7. ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
To-Figueras J; Ducamp S; Clayton J; Badenas C; Delaby C; Ged C; Lyoumi S; Gouya L; de Verneuil H; Beaumont C; Ferreira GC; Deybach JC; Herrero C; Puy H
Blood; 2011 Aug; 118(6):1443-51. PubMed ID: 21653323
[TBL] [Abstract][Full Text] [Related]
8. Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release.
Bailey HJ; Bezerra GA; Marcero JR; Padhi S; Foster WR; Rembeza E; Roy A; Bishop DF; Desnick RJ; Bulusu G; Dailey HA; Yue WW
Nat Commun; 2020 Jun; 11(1):2813. PubMed ID: 32499479
[TBL] [Abstract][Full Text] [Related]
9. Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.
Balwani M; Naik H; Anderson KE; Bissell DM; Bloomer J; Bonkovsky HL; Phillips JD; Overbey JR; Wang B; Singal AK; Liu LU; Desnick RJ
JAMA Dermatol; 2017 Aug; 153(8):789-796. PubMed ID: 28614581
[TBL] [Abstract][Full Text] [Related]
10. X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.
Brancaleoni V; Balwani M; Granata F; Graziadei G; Missineo P; Fiorentino V; Fustinoni S; Cappellini MD; Naik H; Desnick RJ; Di Pierro E
Clin Genet; 2016 Jan; 89(1):20-6. PubMed ID: 25615817
[TBL] [Abstract][Full Text] [Related]
11. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
Whatley SD; Ducamp S; Gouya L; Grandchamp B; Beaumont C; Badminton MN; Elder GH; Holme SA; Anstey AV; Parker M; Corrigall AV; Meissner PN; Hift RJ; Marsden JT; Ma Y; Mieli-Vergani G; Deybach JC; Puy H
Am J Hum Genet; 2008 Sep; 83(3):408-14. PubMed ID: 18760763
[TBL] [Abstract][Full Text] [Related]
12. Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patients.
Fratz-Berilla EJ; Breydo L; Gouya L; Puy H; Uversky VN; Ferreira GC
Biochim Biophys Acta Mol Basis Dis; 2017 Feb; 1863(2):428-439. PubMed ID: 27838491
[TBL] [Abstract][Full Text] [Related]
13. [Inheritance in erythropoietic protoporphyria].
Schmitt C; Ducamp S; Gouya L; Deybach JC; Puy H
Pathol Biol (Paris); 2010 Oct; 58(5):372-80. PubMed ID: 20850938
[TBL] [Abstract][Full Text] [Related]
14. X-linked dominant protoporphyria: The first reported Japanese case.
Ninomiya Y; Kokunai Y; Tanizaki H; Akasaka E; Nakano H; Moriwaki S
J Dermatol; 2016 Apr; 43(4):414-8. PubMed ID: 26387792
[TBL] [Abstract][Full Text] [Related]
15. The molecular genetics of erythropoietic protoporphyria.
Elder GH; Gouya L; Whatley SD; Puy H; Badminton MN; Deybach JC
Cell Mol Biol (Noisy-le-grand); 2009 Jul; 55(2):118-26. PubMed ID: 19656460
[TBL] [Abstract][Full Text] [Related]
16. Anti-Correlation between the Dynamics of the Active Site Loop and C-Terminal Tail in Relation to the Homodimer Asymmetry of the Mouse Erythroid 5-Aminolevulinate Synthase.
Na I; Catena D; Kong MJ; Ferreira GC; Uversky VN
Int J Mol Sci; 2018 Jun; 19(7):. PubMed ID: 29958424
[TBL] [Abstract][Full Text] [Related]
17. Bone marrow transplant for X-linked protoporphyria with severe hepatic fibrosis.
Butler DF; Ginn KF; Daniel JF; Bloomer JR; Kats A; Shreve N; Myers GD
Pediatr Transplant; 2015 Jun; 19(4):E106-10. PubMed ID: 25856424
[TBL] [Abstract][Full Text] [Related]
18. Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Weiss Y; Balwani M; Chen B; Yasuda M; Nazarenko I; Desnick RJ
Mol Genet Metab; 2019 Nov; 128(3):358-362. PubMed ID: 30454868
[TBL] [Abstract][Full Text] [Related]
19. Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.
Balwani M
Mol Genet Metab; 2019 Nov; 128(3):298-303. PubMed ID: 30704898
[TBL] [Abstract][Full Text] [Related]
20. Photosensitivity in the elderly-think of late-onset protoporphyria.
Frank J; Poblete-Gutiérrez P; Neumann NJ
J Invest Dermatol; 2013 Jun; 133(6):1467-71. PubMed ID: 23673504
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
