Detalhe da pesquisa
1.
Small molecule Y-320 stimulates ribosome biogenesis, protein synthesis, and aminoglycoside-induced premature termination codon readthrough.
PLoS Biol
; 19(5): e3001221, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33939688
2.
Nonselective TRPC channel inhibition and suppression of aminoglycoside-induced premature termination codon readthrough by the small molecule AC1903.
J Biol Chem
; 298(2): 101546, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34999117
3.
Effect of small molecule eRF3 degraders on premature termination codon readthrough.
Nucleic Acids Res
; 49(7): 3692-3708, 2021 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33764477
4.
Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett Syndrome.
Int J Mol Sci
; 24(14)2023 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511424
5.
Gentamicin B1 is a minor gentamicin component with major nonsense mutation suppression activity.
Proc Natl Acad Sci U S A
; 114(13): 3479-3484, 2017 03 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28289221
6.
Novel small molecules potentiate premature termination codon readthrough by aminoglycosides.
Nucleic Acids Res
; 44(14): 6583-98, 2016 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-27407112
7.
Phenotypic evolution of UNC80 loss of function.
Am J Med Genet A
; 170(12): 3106-3114, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27513830
8.
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).
Clin Immunol
; 161(2): 355-65, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26499378
9.
Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.
Hum Mol Genet
; 21(11): 2572-87, 2012 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22378147
10.
Bone marrow transplantation in Schimke immuno-osseous dysplasia.
Am J Med Genet A
; 161A(10): 2609-13, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23950031
11.
Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child.
Pediatr Blood Cancer
; 60(9): E88-90, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23630135
12.
SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.
Am J Med Genet A
; 158A(9): 2204-13, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22888040
13.
FMRP-dependent production of large dosage-sensitive proteins is highly conserved.
Genetics
; 221(4)2022 07 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35731217
14.
Non-hodgkin lymphoma in a child with schimke immuno-osseous dysplasia.
Iran J Med Sci
; 36(3): 222-5, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23359635
15.
Reducing the Toxicity of Designer Aminoglycosides as Nonsense Mutation Readthrough Agents for Therapeutic Targets.
ACS Med Chem Lett
; 12(9): 1486-1492, 2021 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34531957
16.
Premature termination codon readthrough upregulates progranulin expression and improves lysosomal function in preclinical models of GRN deficiency.
Mol Neurodegener
; 15(1): 21, 2020 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32178712
17.
Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasia.
Pediatr Transplant
; 13(4): 482-9, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18785907
18.
2-Aminothiazole-4-carboxamides Enhance Readthrough of Premature Termination Codons by Aminoglycosides.
ACS Med Chem Lett
; 10(5): 726-731, 2019 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31097990
19.
New Negamycin-Based Potent Readthrough Derivative Effective against TGA-Type Nonsense Mutations.
ACS Med Chem Lett
; 10(10): 1450-1456, 2019 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31620232
20.
The antimalarial drug mefloquine enhances TP53 premature termination codon readthrough by aminoglycoside G418.
PLoS One
; 14(5): e0216423, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31120902