Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

The American journal of pathology - 1 Apr 2006

Fanin Marina, Nascimbeni Anna C, Fulizio Luigi, Spinazzi Marco, Melacini Paola, Angelini Corrado

Abstract excerpt

Danon disease, an X-linked dominant disorder, results from mutations in the lysosome-associated membrane protein-2 (LAMP2) gene and presents with hypertrophic cardiomyopathy, skeletal myopathy, and mental retardation. To investigate the effects of LAMP2 gene mutations on protein expression in dif...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiomyopathy, Hypertrophic
Share to Fibroblasts
Share to Immunohistochemistry

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Leukocytes

Share to Lysosomal-Associated Membrane Protein 2

Share to Muscle, Skeletal

Share to Myocardium

Share to X Chromosome Inactivation

Source

Open in PubMed Open full text

Identifiers

PMID: 16565504
DOI: 10.2353/ajpath.2006.050646
PMCID: PMC1606547

Genes

LAMP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16565504-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.PMID 16565504Read ↗

Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency.Semantic proximity Read ↗

Danon Disease: Understanding the Role of LAMP2 Variants in Cardiomyopathy and Multisystemic Involvement.Semantic proximity Read ↗

Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.Semantic proximity Read ↗

Novel LAMP-2 Mutation in a Family With Danon Disease Presenting With Hypertrophic CardiomyopathySemantic proximity Read ↗

Danon disease: a phenotypic expression of LAMP-2 deficiency.Semantic proximity Read ↗

Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression.Semantic proximity Read ↗

Danon disease - dysregulation of autophagy in a multisystem disorder with cardiomyopathy.Semantic proximity Read ↗

Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation.Semantic proximity Read ↗

Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation.Semantic proximity Read ↗

Morphologic and clinical aspects of Danon disease in a patient with a mutation c.137G > A in the LAMP-2 gene.Semantic proximity Read ↗

A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease.Semantic proximity Read ↗

A new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.