(Q35088111)

English

Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.

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scholarly article

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16565504%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16565504%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

membrane protein

1 reference

based on heuristic

inferred from title

Corrado Angelini

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16565504%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

author name string

Marina Fanin

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16565504%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Anna C Nascimbeni

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16565504%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Luigi Fulizio

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16565504%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Marco Spinazzi

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16565504%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Paola Melacini

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16565504%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

language of work or name

0 references

publication date

1 April 2006

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16565504%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

The American Journal of Pathology

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16565504%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

168

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16565504%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16565504%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1309-1320

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16565504%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1606547/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

The apoptosis/autophagy paradox: autophagic vacuolization before apoptotic death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

A new function for nonsense-mediated mRNA-decay factors

1 reference

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8 July 2018

Cytoplasmic nonsense-mediated mRNA decay for a nonsense (W262X) transcript of the gene responsible for hereditary tyrosinemia, fumarylacetoacetate hydrolase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

Nonsense-mediated decay approaches the clinic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

At the acidic edge: emerging functions for lysosomal membrane proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

Role of LAMP-2 in lysosome biogenesis and autophagy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

Clinicopathological features of genetically confirmed Danon disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

Disease model: LAMP-2 enlightens Danon disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

Unique properties of lamp2a compared to other lamp2 isoforms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

Nonsense-mediated mRNA decay in health and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

Localization of dystrophin and beta-spectrin in vacuolar myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

Biogenesis of the lysosomal membrane.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

An alternatively spliced form of the human lysosome-associated membrane protein-2 gene is expressed in a tissue-specific manner

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

Lysosomal glycogen storage disease with normal acid maltase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

Identification of two lysosomal membrane glycoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

8 July 2018

Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

27 September 2018

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

27 September 2018

Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

27 September 2018

Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

27 September 2018

Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1606547

25 October 2018

Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children

1 reference

https://pubmed.ncbi.nlm.nih.gov/16565504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of Danon disease in a male patient and his affected mother

1 reference

https://pubmed.ncbi.nlm.nih.gov/16565504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.2353/AJPATH.2006.050646

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16565504%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

release_gicr562fezfmhgfze2qt737wqm

1 reference

https://api.fatcat.wiki/v0/release/gicr562fezfmhgfze2qt737wqm

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16565504%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16565504%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

ResearchGate publication ID

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