(Q27301297)

25 June 2017

title

The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy (English)

1 reference

Infantile neuronal ceroid lipofuscinosis

25 June 2017

main subject

0 references

author name string

Jake N Miller

series ordinal

1

1 reference

25 June 2017

Attila D Kovács

series ordinal

2

1 reference

25 June 2017

David A Pearce

series ordinal

3

1 reference

25 June 2017

language of work or name

English

0 references

publication date

8 September 2014

1 reference

25 June 2017

published in

Human Molecular Genetics

1 reference

25 June 2017

volume

24

1 reference

25 June 2017

issue

1

1 reference

25 June 2017

page(s)

185-196

1 reference

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

25 June 2017

cites work

1 reference

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A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants

21 March 2017

1 reference

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The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

A new mathematical model for relative quantification in real-time RT-PCR

21 March 2017

1 reference

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Motor dysfunction in type 5 adenylyl cyclase-null mice

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

Relative expression software tool (REST©) for group-wise comparison and statistical analysis of relative expression results in real-time PCR

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

Long-term nonsense suppression therapy moderates MPS I-H disease progression.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

Identification of palmitoyl protein thioesterase 1 in human THP1 monocytes and macrophages and characterization of unique biochemical activities for this enzyme

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

Location- and sex-specific differences in weight and motor coordination in two commonly used mouse strains

28 September 2017

1 reference

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The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

Pharmaceutical therapies to recode nonsense mutations in inherited diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

Involvement of NMDAR2A tyrosine phosphorylation in depression-related behaviour

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

Cerebellar pathology and motor deficits in the palmitoyl protein thioesterase 1-deficient mouse

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

PTC124 targets genetic disorders caused by nonsense mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

The tail suspension test as a model for assessing antidepressant activity: review of pharmacological and genetic studies in mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

The neuronal ceroid-lipofuscinoses

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

Neuronal ceroid-lipofuscinoses in childhood

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

N-acetylcysteine prevents loss of dopaminergic neurons in the EAAC1-/- mouse

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326326

Neuronal ceroid lipofuscinoses

31 May 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU428

Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU428

Palmitoyl-protein thioesterase deficiency in a novel granular variant of LINCL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU428

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU428

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU428

Structural basis of neuronal ceroid lipofuscinosis 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU428

A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU428

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU428

CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU428

Methods to rapidly and accurately screen a large number of ENU mutagenized mice for abnormal motor phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU428

Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25205113

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits [published erratum appears in Hum Mol Genet 1998 Apr;7(4):765]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25205113

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25205113

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDU428

1 reference

OpenCitations bibliographic resource ID

25 June 2017

2272375

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2272375

1 reference