Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients (Q35561773)

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scientific article published on 13 June 2011

Language	Label	Description	Also known as
English	Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients	scientific article published on 13 June 2011

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients (English)

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

apoptotic process

1 reference

based on heuristic

inferred from title

author name string

Chinmoy Sarkar

1

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Zhongjian Zhang

2

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Anil B Mukherjee

3

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

publication date

13 June 2011

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Molecular Genetics and Metabolism

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

104

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

338-345

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol

1 reference

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Emerging genetic therapies to treat Duchenne muscular dystrophy

1 reference

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27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220191

27 July 2018

PTC124 targets genetic disorders caused by nonsense mutations

1 reference

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27 July 2018

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

1 reference

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27 July 2018

From genes to systems: new global strategies for the characterization of NCL biology

1 reference

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Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis.

1 reference

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The neuronal ceroid-lipofuscinoses: from past to present

1 reference

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27 July 2018

Stop-codon read-through for patients affected by a lysosomal storage disorder.

1 reference

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27 July 2018

Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220191

27 July 2018

Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220191

27 July 2018

Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL

1 reference

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27 July 2018

Pharmacologic therapy for stop mutations: how much CFTR activity is enough?

1 reference

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27 July 2018

The genetic spectrum of human neuronal ceroid-lipofuscinoses

1 reference

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27 July 2018

Current state of clinical and morphological features in human NCL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220191

27 July 2018

Nonsense-mediated mRNA decay in health and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220191

27 July 2018

Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220191

27 July 2018

Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220191

27 July 2018

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220191

27 July 2018

Rapid colorimetric assay for cellular growth and survival: Application to proliferation and cytotoxicity assays

1 reference

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27 July 2018

PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220191

26 September 2018

Introducing sense into nonsense in treatments of human genetic diseases

1 reference

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26 September 2018

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

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The blood-brain barrier in health and chronic neurodegenerative disorders

1 reference

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26 September 2018

ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones

1 reference

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26 September 2018

Neuronal ceroid lipofuscinoses therapeutic strategies: past, present and future

1 reference

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26 September 2018

Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis

1 reference

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

1 reference

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Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice

1 reference

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Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood

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Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis

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Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations

1 reference

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A rapid fluorogenic palmitoyl-protein thioesterase assay: pre- and postnatal diagnosis of INCL

1 reference

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7 January 2021

CSF insulin-like growth factor-1 in infantile neuronal ceroid lipofuscinosis

1 reference

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7 January 2021

Identifiers

10.1016/J.YMGME.2011.05.021

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

ResearchGate publication ID

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