(Q36349854)

13 August 2017

Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features (English)

1 reference

13 August 2017

Disruption ofPPT2in mice causes an unusual lysosomal storage disorder with neurovisceral features (English)

1 reference

Crossref

DOI

10.1073/PNAS.2033229100

https://api.crossref.org/works/10.1073/PNAS.2033229100

18 March 2024

author name string

Praveena Gupta

1

1 reference

13 August 2017

Abigail A. Soyombo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14528005

18 March 2024

John M. Shelton

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14528005

18 March 2024

Ian G. Wilkofsky

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14528005

18 March 2024

Krystyna E. Wisniewski

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14528005

18 March 2024

James A. Richardson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14528005

18 March 2024

Sandra L. Hofmann

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14528005

18 March 2024

language of work or name

English

0 references

publication date

3 October 2003

1 reference

full work available at URL

13 August 2017

https://europepmc.org/articles/pmc218757?pdf=render

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14528005

https://europepmc.org/articles/PMC218757

18 March 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14528005

https://europepmc.org/articles/PMC218757?pdf=render

18 March 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14528005

https://doi.org/10.1073/pnas.2033229100

18 March 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14528005

https://pnas.org/doi/pdf/10.1073/pnas.2033229100

18 March 2024

1 reference

Crossref

DOI

10.1073/PNAS.2033229100

https://api.crossref.org/works/10.1073/PNAS.2033229100

Proceedings of the National Academy of Sciences of the United States of America

18 March 2024

published in

1 reference

13 August 2017

100

1 reference

13 August 2017

21

1 reference

13 August 2017

12325-12330

1 reference

The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and PPT2

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=218757

The mousetrap: what we can learn when the mouse model does not mimic the human disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=218757

Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=218757

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=218757

Structure of the human palmitoyl-protein thioesterase-2 gene (PPT2) in the major histocompatibility complex on chromosome 6p21.3.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=218757

Animal models of lysosomal disease: an overview

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=218757

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=218757

TUNEL apoptotic cell detection in tissue sections: critical evaluation and improvement

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=218757

Mouse models of human lysosomal diseases.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=218757

Molecular cloning and expression of palmitoyl-protein thioesterase 2 (PPT2), a homolog of lysosomal palmitoyl-protein thioesterase with a distinct substrate specificity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=218757

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=218757

Molecular cloning and expression of palmitoyl-protein thioesterase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=218757

Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=218757

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=218757

Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: Review of data and observations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=218757

Diagnosis of neurometabolic disorders by examination of skin biopsies and lymphocytes.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=218757

Phenotype analysis in neurological models of human disease

29 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.2033229100

21 January 2018

Identifiers

DOI

10.1073/PNAS.2033229100

1 reference

13 August 2017

0 references

1 reference

13 August 2017

1 reference