591 related articles for article (PubMed ID: 21536732)
1. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.
Finch AJ; Hilcenko C; Basse N; Drynan LF; Goyenechea B; Menne TF; González Fernández A; Simpson P; D'Santos CS; Arends MJ; Donadieu J; Bellanné-Chantelot C; Costanzo M; Boone C; McKenzie AN; Freund SM; Warren AJ
Genes Dev; 2011 May; 25(9):917-29. PubMed ID: 21536732
[TBL] [Abstract][Full Text] [Related]
2. Mutations in
Stepensky P; Chacón-Flores M; Kim KH; Abuzaitoun O; Bautista-Santos A; Simanovsky N; Siliqi D; Altamura D; Méndez-Godoy A; Gijsbers A; Naser Eddin A; Dor T; Charrow J; Sánchez-Puig N; Elpeleg O
J Med Genet; 2017 Aug; 54(8):558-566. PubMed ID: 28331068
[TBL] [Abstract][Full Text] [Related]
3. Defective ribosome assembly in Shwachman-Diamond syndrome.
Wong CC; Traynor D; Basse N; Kay RR; Warren AJ
Blood; 2011 Oct; 118(16):4305-12. PubMed ID: 21803848
[TBL] [Abstract][Full Text] [Related]
4. Of blood, bones, and ribosomes: is Swachman-Diamond syndrome a ribosomopathy?
Johnson AW; Ellis SR
Genes Dev; 2011 May; 25(9):898-900. PubMed ID: 21536731
[TBL] [Abstract][Full Text] [Related]
5. Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein.
García-Márquez A; Gijsbers A; de la Mora E; Sánchez-Puig N
J Biol Chem; 2015 Jul; 290(29):17669-17678. PubMed ID: 25991726
[TBL] [Abstract][Full Text] [Related]
6. eIF6 anti-association activity is required for ribosome biogenesis, translational control and tumor progression.
Brina D; Miluzio A; Ricciardi S; Biffo S
Biochim Biophys Acta; 2015 Jul; 1849(7):830-5. PubMed ID: 25252159
[TBL] [Abstract][Full Text] [Related]
7. Somatic genetic rescue of a germline ribosome assembly defect.
Tan S; Kermasson L; Hilcenko C; Kargas V; Traynor D; Boukerrou AZ; Escudero-Urquijo N; Faille A; Bertrand A; Rossmann M; Goyenechea B; Jin L; Moreil J; Alibeu O; Beaupain B; Bôle-Feysot C; Fumagalli S; Kaltenbach S; Martignoles JA; Masson C; Nitschké P; Parisot M; Pouliet A; Radford-Weiss I; Tores F; de Villartay JP; Zarhrate M; Koh AL; Phua KB; Reversade B; Bond PJ; Bellanné-Chantelot C; Callebaut I; Delhommeau F; Donadieu J; Warren AJ; Revy P
Nat Commun; 2021 Aug; 12(1):5044. PubMed ID: 34413298
[TBL] [Abstract][Full Text] [Related]
8. Impaired ribosomal subunit association in Shwachman-Diamond syndrome.
Burwick N; Coats SA; Nakamura T; Shimamura A
Blood; 2012 Dec; 120(26):5143-52. PubMed ID: 23115272
[TBL] [Abstract][Full Text] [Related]
9. Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the Shwachman-Diamond syndrome.
Gijsbers A; García-Márquez A; Luviano A; Sánchez-Puig N
Biochem Biophys Res Commun; 2013 Aug; 437(3):349-54. PubMed ID: 23831625
[TBL] [Abstract][Full Text] [Related]
10. Mechanism of eIF6 release from the nascent 60S ribosomal subunit.
Weis F; Giudice E; Churcher M; Jin L; Hilcenko C; Wong CC; Traynor D; Kay RR; Warren AJ
Nat Struct Mol Biol; 2015 Nov; 22(11):914-9. PubMed ID: 26479198
[TBL] [Abstract][Full Text] [Related]
11. Direct interaction between EFL1 and SBDS is mediated by an intrinsically disordered insertion domain.
Asano N; Atsuumi H; Nakamura A; Tanaka Y; Tanaka I; Yao M
Biochem Biophys Res Commun; 2014 Jan; 443(4):1251-6. PubMed ID: 24406167
[TBL] [Abstract][Full Text] [Related]
12. Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.
Bezzerri V; Cipolli M
Mol Diagn Ther; 2019 Apr; 23(2):281-290. PubMed ID: 30413969
[TBL] [Abstract][Full Text] [Related]
13. eIF6 rebinding dynamically couples ribosome maturation and translation.
Jaako P; Faille A; Tan S; Wong CC; Escudero-Urquijo N; Castro-Hartmann P; Wright P; Hilcenko C; Adams DJ; Warren AJ
Nat Commun; 2022 Mar; 13(1):1562. PubMed ID: 35322020
[TBL] [Abstract][Full Text] [Related]
14. Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.
Warren AJ
Adv Biol Regul; 2018 Jan; 67():109-127. PubMed ID: 28942353
[TBL] [Abstract][Full Text] [Related]
15. Eukaryotic translation initiation factor 6 is a novel regulator of reactive oxygen species-dependent megakaryocyte maturation.
Ricciardi S; Miluzio A; Brina D; Clarke K; Bonomo M; Aiolfi R; Guidotti LG; Falciani F; Biffo S
J Thromb Haemost; 2015 Nov; 13(11):2108-18. PubMed ID: 26391622
[TBL] [Abstract][Full Text] [Related]
16. Site-specific labeling of SBDS to monitor interactions with the 60S ribosomal subunit.
Biswas A; Peng YF; Kaushik V; Origanti S
Methods; 2023 Mar; 211():68-72. PubMed ID: 36781034
[TBL] [Abstract][Full Text] [Related]
17. Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?
Koh AL; Bonnard C; Lim JY; Liew WK; Thoon KC; Thomas T; Ali NAB; Ng AYJ; Tohari S; Phua KB; Venkatesh B; Reversade B; Jamuar SS
Am J Med Genet A; 2020 Sep; 182(9):2010-2020. PubMed ID: 32657013
[TBL] [Abstract][Full Text] [Related]
18. Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules.
Tourlakis ME; Zhong J; Gandhi R; Zhang S; Chen L; Durie PR; Rommens JM
Gastroenterology; 2012 Aug; 143(2):481-92. PubMed ID: 22510201
[TBL] [Abstract][Full Text] [Related]
19. EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
Tan S; Kermasson L; Hoslin A; Jaako P; Faille A; Acevedo-Arozena A; Lengline E; Ranta D; Poirée M; Fenneteau O; Ducou le Pointe H; Fumagalli S; Beaupain B; Nitschké P; Bôle-Feysot C; de Villartay JP; Bellanné-Chantelot C; Donadieu J; Kannengiesser C; Warren AJ; Revy P
Blood; 2019 Jul; 134(3):277-290. PubMed ID: 31151987
[TBL] [Abstract][Full Text] [Related]
20. Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations.
Gijsbers A; Montagut DC; Méndez-Godoy A; Altamura D; Saviano M; Siliqi D; Sánchez-Puig N
Int J Mol Sci; 2018 Dec; 19(12):. PubMed ID: 30545121
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]