132 related articles for article (PubMed ID: 31838967)
1. Exploring the role of elongation Factor-Like 1 (EFL1) in Shwachman-Diamond syndrome through molecular dynamics.
Delre P; Alberga D; Gijsbers A; Sánchez-Puig N; Nicolotti O; Saviano M; Siliqi D; Mangiatordi GF
J Biomol Struct Dyn; 2020 Oct; 38(17):5219-5229. PubMed ID: 31838967
[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 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]
4. Further evidence for the involvement of
Tan QK; Cope H; Spillmann RC; Stong N; Jiang YH; McDonald MT; Rothman JA; Butler MW; Frush DP; Lachman RS; Lee B; Bacino CA; Bonner MJ; McCall CM; Pendse AA; Walley N; ; Shashi V; Pena LDM
Cold Spring Harb Mol Case Stud; 2018 Oct; 4(5):. PubMed ID: 29970384
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS.
Spinetti E; Delre P; Saviano M; Siliqi D; Lattanzi G; Mangiatordi GF
Int J Mol Sci; 2022 Jul; 23(14):. PubMed ID: 35887285
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.
Lee S; Shin CH; Lee J; Jeong SD; Hong CR; Kim JD; Kim AR; Park B; Son SJ; Kokhan O; Yoo T; Ko JS; Sohn YB; Kim OH; Ko JM; Cho TJ; Wright NT; Seong JK; Jin SW; Kang HJ; Kim HH; Choi M
Blood; 2021 Nov; 138(21):2117-2128. PubMed ID: 34115847
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
Carapito R; Konantz M; Paillard C; Miao Z; Pichot A; Leduc MS; Yang Y; Bergstrom KL; Mahoney DH; Shardy DL; Alsaleh G; Naegely L; Kolmer A; Paul N; Hanauer A; Rolli V; Müller JS; Alghisi E; Sauteur L; Macquin C; Morlon A; Sancho CS; Amati-Bonneau P; Procaccio V; Mosca-Boidron AL; Marle N; Osmani N; Lefebvre O; Goetz JG; Unal S; Akarsu NA; Radosavljevic M; Chenard MP; Rialland F; Grain A; Béné MC; Eveillard M; Vincent M; Guy J; Faivre L; Thauvin-Robinet C; Thevenon J; Myers K; Fleming MD; Shimamura A; Bottollier-Lemallaz E; Westhof E; Lengerke C; Isidor B; Bahram S
J Clin Invest; 2017 Nov; 127(11):4090-4103. PubMed ID: 28972538
[TBL] [Abstract][Full Text] [Related]
15. Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome.
Myers KC; Rose SR; Rutter MM; Mehta PA; Khoury JC; Cole T; Harris RE
J Pediatr; 2013 Jun; 162(6):1235-40, 1240.e1. PubMed ID: 23305959
[TBL] [Abstract][Full Text] [Related]
16. Mislocalization or low expression of mutated Shwachman-Bodian-Diamond syndrome protein.
Yamaguchi M; Fujimura K; Kanegane H; Toga-Yamaguchi H; Chopra R; Okamura N
Int J Hematol; 2011 Jul; 94(1):54-62. PubMed ID: 21660439
[TBL] [Abstract][Full Text] [Related]
17. Altered Conformational Landscape upon Sensing Guanine Nucleotides in a Disease Mutant of Elongation Factor-like 1 (EFL1) GTPase.
Pérez-Juárez J; Tapia-Vieyra JV; Gutiérrez-Magdaleno G; Sánchez-Puig N
Biomolecules; 2022 Aug; 12(8):. PubMed ID: 36009035
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data.
Delaporta P; Sofocleous C; Economou M; Makis A; Kostaridou S; Kattamis A
Pediatr Blood Cancer; 2017 Nov; 64(11):. PubMed ID: 28509441
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
