(Q24301602)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json

Infantile neuronal ceroid lipofuscinosis

31 December 2019

main subject

0 references

tripeptidyl peptidase 1

1 reference

Jansky–Bielschowsky disease

GOA release 2020-03-11

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

author name string

Robert Steinfeld

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Hans-Bertram Steinke

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Dirk Isbrandt

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Jutta Gärtner

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

language of work or name

English

0 references

publication date

18 August 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

volume

13

1 reference

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31 December 2019

page(s)

2483-2491

1 reference

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31 December 2019

issue

20

1 reference

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Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations

31 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

Expression and analysis of CLN2 variants in CHO cells: Q100R represents a polymorphism, and G389E and R447H represent loss-of-function mutations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

Isolation of a novel gene underlying batten disease, CLN3

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

Purification and characterisation of a tripeptidyl aminopeptidase I from rat spleen.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

Analysis of endoplasmic reticulum trafficking signals by combinatorial screening in mammalian cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

N-glycosylation is crucial for folding, trafficking, and stability of human tripeptidyl-peptidase I.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

Maturation of human tripeptidyl-peptidase I in vitro

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2)

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH264

7 January 2021

Identifiers

DOI

10.1093/HMG/DDH264

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317752%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference