(Q46933126)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17959406%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17959406%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17959406%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Mariana Alves

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17959406%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Carla Andreia Teixeira

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17959406%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Lacerda L

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17959406%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Maria Gil Ribeiro

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17959406%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

author name string

Dias A

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17959406%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Rocha S

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17959406%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Loureiro L

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17959406%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Guimarães A

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17959406%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

publication date

23 October 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17959406%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

9 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17959406%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

volume

93

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17959406%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17959406%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

page(s)

66-73

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17959406%20AND%20SRC:MED&resulttype=core&format=json

The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH

9 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Pre-mRNA splicing and human disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Pre-mRNA splicing in the new millennium

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Prediction of complete gene structures in human genomic DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

ESEfinder: A web resource to identify exonic splicing enhancers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Predictive identification of exonic splicing enhancers in human genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Listening to silence and understanding nonsense: exonic mutations that affect splicing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Scanning and competition between AGs are involved in 3' splice site selection in mammalian introns

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Catalytic residues and substrate specificity of recombinant human tripeptidyl peptidase I (CLN2).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

A model of tripeptidyl-peptidase I (CLN2), a ubiquitous and highly conserved member of the sedolisin family of serine-carboxyl peptidases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Splicing regulation as a potential genetic modifier

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

The splicing machinery is a genetic modifier of disease severity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Correction of alternative splicing of tau in frontotemporal dementia and parkinsonism linked to chromosome 17.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Control of alternative splicing by antisense oligonucleotides as a potential chemotherapy: effects on gene expression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

Partial correction of endogenous DeltaF508 CFTR in human cystic fibrosis airway epithelia by spliceosome-mediated RNA trans-splicing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.124

10.1016/J.YMGME.2007.08.124

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17959406%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference