Nonaminoglycoside compounds induce readthrough of nonsense mutations. - Wikidata - wikimedia - TriplyDB

Nonaminoglycoside compounds induce readthrough of nonsense mutations.

Nonaminoglycoside compounds induce readthrough of nonsense mutations.

http://www.wikidata.org/entity/Q37377461

about

New approaches to the treatment of orphan genetic disorders: Mitigating molecular pathologies using chemicals Mechanisms of granulin deficiency: lessons from cellular and animal models SMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic models Phenylketonuria: translating research into novel therapies Nonsense-mediated mRNA decay in humans at a glance Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases Chemical-Induced Read-Through at Premature Termination Codons Determined by a Rapid Dual-Fluorescence System Based on S. cerevisiae A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease.ATM is down-regulated by N-Myc-regulated microRNA-421.Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured Cells.Dystrophins, utrophins, and associated scaffolding complexes: role in mammalian brain and implications for therapeutic strategies.Mass spectrometry-based tissue imaging of small molecules Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.Gene therapy for muscular dystrophy: moving the field forward.Nonsense-mediated decay in genetic disease: friend or foe?SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs.A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.High throughput screening in duchenne muscular dystrophy: from drug discovery to functional genomics Stimulators of translation identified during a small molecule screening campaign Arginine-rich cell-penetrating peptide dramatically enhances AMO-mediated ATM aberrant splicing correction and enables delivery to brain and cerebellum.Post-transcriptionally regulated expression system in human xenogeneic transplantation models.Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases.The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse.Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.Expanding rare disease drug trials based on shared molecular etiology Suppression of premature termination codons as a therapeutic approach.Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy Read-through strategies for suppression of nonsense mutations in Duchenne/ Becker muscular dystrophy: aminoglycosides and ataluren (PTC124).Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.Therapeutics based on stop codon readthrough.Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases.Potential therapeutic applications of antisense morpholino oligonucleotides in modulation of splicing in primary immunodeficiency diseases ATM protein kinase: the linchpin of cellular defenses to stress.Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease.Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs).Translational readthrough-promoting drugs enhance pseudoknot-mediated suppression of the stop codon at the Moloney murine leukemia virus gag–pol junction.Small molecules as therapeutic agents for inborn errors of metabolism.Fluorescence Amplification Method for Forward Genetic Discovery of Factors in Human mRNA Degradation.

P2860

Q26801582-1B9BC2D4-85A4-4919-8978-E0087F613D27 Q26824221-11B710D6-6930-439B-AE63-E5BCA1E5A69C Q27007538-583B063E-7657-4938-97E2-81C3770F505F Q27015749-C72C5924-E17F-44EF-8939-82210180A937 Q28077157-71BD4F2A-03B1-4603-9E62-943F3A9FC57E Q28547356-A966114A-0B07-4CFB-BB20-A79651891C16 Q28551611-252A9131-506A-440C-BEE5-1E740D1B0274 Q30670040-C298D8DF-8CF7-4156-8CA7-B8D73EDAF8A5 Q33667539-F80C8354-4632-43F1-B220-E8848E2C386D Q33947357-6181E002-DD65-4C15-AD45-965D7A91BEEE Q33961107-2E0CD8BC-CB66-4476-BFE2-2BD5B0DC4599 Q34279939-6A1F8197-98F7-4046-A42A-C3354046409B Q34409434-6AD79A9B-09CA-42D1-971E-F082B147CE4F Q34422332-EBAFA936-4E78-442E-BFE2-C185150E042A Q34625436-82626F16-6DD6-4939-99C0-A409DA0337F9 Q34658988-737BF6DD-6072-4452-B18F-71539FEE3274 Q34709237-181B10FF-3572-4F35-A1CB-E7522BAA12FD Q34775214-2CCD57B6-20BC-4579-B4F1-00F7B4393911 Q34792390-95E960C5-EDDB-4BD5-A301-9BB4FB2B20C7 Q35090040-50868909-B3C8-476D-BFC6-56AA82F0632B Q35119681-FEC862B3-5706-421A-98C8-51A852FADDE7 Q35238283-D58365FD-136D-46F7-8F94-445B8B6B47C0 Q35287888-CE03E1A3-026F-437F-BDCE-258E814764B5 Q35661233-1B636A43-F65E-456D-96D6-16665C3B3B34 Q35681880-3046F309-EEFF-4154-B7AA-83C5573BB15B Q35993017-69F7CAC1-90DA-4977-B88B-FED1280BB400 Q36203719-A3D46512-4FC6-4A8F-97DC-03BA019E4768 Q36714202-9155CCB6-ED36-4C3C-BEB4-97ACA48838F8 Q36907558-6274F30A-78B5-4BDD-9BFA-5E1387196A37 Q37067969-F05BC5BC-404A-4555-9575-1F3455935FFC Q37353126-819C397C-8CFD-4D6A-A150-5D748B05019C Q37638359-D4AE9E70-09A1-4334-A20B-54373A609906 Q37726532-2A1B658E-0C43-4379-B294-612A405E807C Q37819299-17F2857E-D1B7-40D0-BB20-1BCEED011BE8 Q37870855-440B9F62-9374-4502-94BC-878ED498369E Q38072030-F7223CBC-AD72-494A-AEAA-F51A5691B722 Q38737126-69591C51-1A3B-4C4B-B38A-B15D2066C5D3 Q38834522-32D59000-BB9F-4766-83FD-DFB6F9B6C28F Q39038060-AA79C660-0E54-421F-B653-9F4672DA1901 Q39065688-ABEEF795-9C60-42EE-9DB6-9B73EFDE6CBE

P2860

Nonaminoglycoside compounds induce readthrough of nonsense mutations.

http://www.wikidata.org/entity/Q37377461

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 21 September 2009

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Nonaminoglycoside compounds induce readthrough of nonsense mutations.

@en

Nonaminoglycoside compounds induce readthrough of nonsense mutations.

@nl

type

label

Nonaminoglycoside compounds induce readthrough of nonsense mutations.

@en

Nonaminoglycoside compounds induce readthrough of nonsense mutations.

@nl

prefLabel

Nonaminoglycoside compounds induce readthrough of nonsense mutations.

@en

Nonaminoglycoside compounds induce readthrough of nonsense mutations.

@nl

P1433

Q37377461-C6CD2AE1-4162-49F0-99A5-9119076123C2

P1476

Q37377461-723332F9-8787-4B8A-89C8-C21C26222376

P2093

Q37377461-068814E0-2B5B-4FED-B3CC-9A293EC045F4

Q37377461-1AF2485A-5FFF-47E9-B617-0A16BA4AD1E9

Q37377461-21CB6C0C-48AE-41EE-BEA1-B76A9B50FCC5

Q37377461-30EFD2F9-3B3C-4A55-BEE2-92955C3D093B

Q37377461-394364F5-1C8C-4E28-AC86-72EFD441888A

Q37377461-40CEF1B3-FC3A-41D1-B0ED-0F9C497FCFF8

Q37377461-525953B6-2046-44CE-8432-B5CEADAEEFC8

Q37377461-A7BC3E0F-0F8B-4EFA-AE60-C4DD323C2876

Q37377461-CA6FD4B2-0E08-4A59-820A-21CFF7F40CFF

Q37377461-E5B7837E-429A-4CA8-A9D5-FEF2AE9B362B

P2860

Q37377461-025540A5-C342-4579-B251-FECA6B31D6D6

Q37377461-0C503AB0-14F6-4DCA-AF99-C369CB5A3533

Q37377461-0D49ADEF-DCF2-4420-BA6F-90EF0BC31BA7

Q37377461-0E01C89A-B25B-4D39-A24B-BCC189E8DFD9

Q37377461-13753402-21EF-4095-8CCB-DBA4FD57A338

Q37377461-2C771A0F-025D-43BA-B971-2131BB3F0530

Q37377461-2FCDF4DC-1C0C-41F9-A5B1-E8633D87D7AF

Q37377461-360D522B-6934-43CB-93AB-E381689F9DB4

Q37377461-41027AF7-DA70-472E-9CEB-46B9A46FC9AA

Q37377461-443D838B-177A-4A41-AB76-C770B37389E8

P304

Q37377461-DB5B8632-929F-4128-99D4-3124FD2CDABC

P31

Q37377461-99B4B337-B632-4DD0-B550-FC70DE93B8E1

P356

Q37377461-F23AEACE-FCD8-4751-B65F-54D544EED205

P407

Q37377461-FA3B9950-B06C-4A38-8083-70E6AF7F49AA

P433

Q37377461-74FC3274-56BC-4849-9506-BAFD6CC0B7DB

P478

Q37377461-F36EBB51-EB58-4B13-A6B6-C2D46212BF94

P577

Q37377461-11691BAA-47B4-4C16-99B2-0250C53D4BA0

P5875

Q37377461-EC038B2C-FE31-4D61-AFF9-F6942CB70938

P698

Q37377461-C879A3E8-F455-4606-9B7F-55DC91D851E5

P932

Q37377461-79E3B20F-11B9-42E0-ABCD-92D9E38509BA

P356

P1433

Journal of Experimental Medicine

P1476

Nonaminoglycoside compounds induce readthrough of nonsense mutations.

@en

P2093

Carmen Bertoni

http://www.w3.org/2001/XMLSchema#string

Hailiang Hu

http://www.w3.org/2001/XMLSchema#string

Jimena Goldstine

http://www.w3.org/2001/XMLSchema#string

Julianne M Pollard

http://www.w3.org/2001/XMLSchema#string

Kun Gao

http://www.w3.org/2001/XMLSchema#string

Liutao Du

http://www.w3.org/2001/XMLSchema#string

Michael E Jung

http://www.w3.org/2001/XMLSchema#string

Richard A Gatti

http://www.w3.org/2001/XMLSchema#string

Robert Damoiseaux

http://www.w3.org/2001/XMLSchema#string

Shareef Nahas

http://www.w3.org/2001/XMLSchema#string

P2860

Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro

SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint

When the message goes awry: disease-producing mutations that influence mRNA content and performance.

Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.

Aminoglycosides: nephrotoxicity

Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice

Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers.

PTC124 targets genetic disorders caused by nonsense mutations.

Early diagnosis of ataxia-telangiectasia using radiosensitivity testing.

Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression.

P304

2285-2297

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1084/JEM.20081940

http://www.w3.org/2001/XMLSchema#string

P407

P433

10

http://www.w3.org/2001/XMLSchema#string

P478

206

http://www.w3.org/2001/XMLSchema#string

P577

2009-09-21T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

26827640

http://www.w3.org/2001/XMLSchema#string

P698

19770270

http://www.w3.org/2001/XMLSchema#string

P932

2757881

http://www.w3.org/2001/XMLSchema#string