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Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15317752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 December 2019
title
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15317752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 December 2019
main subject
Infantile neuronal ceroid lipofuscinosis
0 references
tripeptidyl peptidase 1
1 reference
stated in
GOA release 2020-03-11
Jansky–Bielschowsky disease
1 reference
based on heuristic
inferred from title
author
Alfried Kohlschütter
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15317752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 December 2019
author name string
Robert Steinfeld
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15317752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 December 2019
Hans-Bertram Steinke
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15317752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 December 2019
Dirk Isbrandt
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15317752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 December 2019
Jutta Gärtner
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15317752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 December 2019
language of work or name
English
0 references
publication date
18 August 2004
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15317752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 December 2019
published in
Human Molecular Genetics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15317752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 December 2019
volume
13
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15317752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 December 2019
issue
20
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15317752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 December 2019
page(s)
2483-2491
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15317752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 December 2019
cites work
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expression and analysis of CLN2 variants in CHO cells: Q100R represents a polymorphism, and G389E and R447H represent loss-of-function mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Isolation of a novel gene underlying batten disease, CLN3
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Purification and characterisation of a tripeptidyl aminopeptidase I from rat spleen
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of endoplasmic reticulum trafficking signals by combinatorial screening in mammalian cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
N-glycosylation is crucial for folding, trafficking, and stability of human tripeptidyl-peptidase I.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Maturation of human tripeptidyl-peptidase I in vitro
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A model of tripeptidyl-peptidase I (CLN2), a ubiquitous and highly conserved member of the sedolisin family of serine-carboxyl peptidases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1093%2FHMG%2FDDH264
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1093/HMG/DDH264
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15317752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 December 2019
PubMed publication ID
15317752
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15317752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 December 2019
ResearchGate publication ID
8393365
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