(Q83258042)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21253826%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21253826%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

Lu Tan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21253826%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Srinivas B Narayan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21253826%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Jie Chen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21253826%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Gail Ditewig Meyers

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21253826%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Michael J Bennett

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21253826%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

publication date

21 January 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21253826%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

20 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21253826%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

volume

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21253826%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21253826%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

page(s)

443-447

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21253826%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10545-010-9265-5

20 January 2020

exact match

0 references

cites work

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations

1 reference

12 December 2020

Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I

1 reference

12 December 2020

PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model

1 reference

12 December 2020

Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme

1 reference

12 December 2020

Aminoglycoside antibiotics

1 reference

12 December 2020

Stop codon read-through of a methylmalonic aciduria mutation

1 reference

12 December 2020

Expression of a cDNA isolated from rat brown adipose tissue and heart identifies the product as the muscle isoform of carnitine palmitoyltransferase I (M-CPT I). M-CPT I is the predominant CPT I isoform expressed in both white (epididymal) and brown

1 reference

12 December 2020

Read-through strategies for suppression of nonsense mutations in Duchenne/ Becker muscular dystrophy: aminoglycosides and ataluren (PTC124).

1 reference

12 December 2020

Molecular aspects of renal handling of aminoglycosides and strategies for preventing the nephrotoxicity

1 reference

12 December 2020

PTC124 targets genetic disorders caused by nonsense mutations

1 reference

12 December 2020

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

1 reference

12 December 2020

Chemical biology: ignore the nonsense.

1 reference

12 December 2020

Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency

1 reference

12 December 2020