|
Glycogen Storage Disease Type IIb
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of LAMP2 cause the classic triad of myopathy, cardiomyopathy and encephalopathy of Danon disease (DD).
|
31672277 |
2020 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LAMP2 mutations cause Danon disease (DD).
|
31729179 |
2020 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A family with Danon disease caused by a splice site mutation in LAMP2 that generates a truncated protein.
|
30714332 |
2019 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in lysosomal-associated membrane protein 2 (<i>LAMP-2</i>) gene are associated with Danon disease, which often leads to cardiomyopathy/heart failure through poorly defined mechanisms.
|
30584088 |
2019 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
Biomarker
|
disease |
BEFREE |
Intracellular vacuoles accumulation with deficiencies of LAMP2 protein was found in both cardiac and skeletal myocytes of patients with Danon disease.
|
30929317 |
2019 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, this study illustrates the importance of utilizing a molecular diagnostic approach in HCM patients and is the first study to report a LAMP2 p.G93R mutation associated with mild DD and identify that XCI serves a protective role in DD etiology.
|
31464081 |
2019 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Retinal dystrophy associated with Danon disease and pathogenic mechanism through LAMP2-mutated retinal pigment epithelium.
|
30836785 |
2019 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Danon disease (DD) is an X-linked dominant disorder caused by a mutation in the lysosomal-associated membrane protein-2 (LAMP-2) gene coding for the LAMP-2 protein.
|
30536852 |
2019 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Danon disease (DD) is caused by mutations in the LAMP2 gene.
|
30108015 |
2019 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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.
|
29753918 |
2019 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
Biomarker
|
disease |
BEFREE |
Lastly, we assessed the function of lysosomal-localized mTOR on the lamp2-associated Danon disease.
|
31228518 |
2019 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Regardless of their clinical differences, we successfully established two sets of iPSC lines that expressed either wild-type or mutant LAMP2 allele from each monozygotic twin with DD, of which only the populations expressing mutant LAMP2 showed autophagic failure.
|
29175505 |
2018 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A genetic LAMP2 defect causes Danon disease, which consists of two major phenotypes of myopathy and cardiomyopathy.
|
29463847 |
2018 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
Biomarker
|
disease |
BEFREE |
Based on these results, Lamp2-deficient rats exhibited greater similarity to DD patients in terms of onset and multisystem lesions than did mouse models, and these rats could be used as a valuable animal model for DD.
|
29720683 |
2018 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LAMP2 exon-copy number variations (eCNVs) were so far reported only in X-hemizygous male DD probands.
|
30194816 |
2018 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
Biomarker
|
disease |
BEFREE |
Although it is well known that LAMP-2 deficiency causes Danon disease, which is characterized by cardiomyopathy, myopathy and mental retardation, the roles of lysosomal membrane proteins including LAMP-1 and LAMP-2 in myogenesis are not fully understood.
|
30068868 |
2018 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
Biomarker
|
disease |
RGD |
Based on these results, Lamp2-deficient rats exhibited greater similarity to DD patients in terms of onset and multisystem lesions than did mouse models, and these rats could be used as a valuable animal model for DD.
|
29720683 |
2018 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Understanding how loss of LAMP-2 expression leads to cardiomyocyte dysfunction and heart failure has important implications for the treatment of Danon disease as well as a variety of other cardiac disorders associated with impaired autophagy.
|
28526246 |
2017 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Malignant cardiac phenotypic expression of Danon disease (LAMP2 cardiomyopathy).
|
28874292 |
2017 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
Biomarker
|
disease |
MGD |
Understanding how loss of LAMP-2 expression leads to cardiomyocyte dysfunction and heart failure has important implications for the treatment of Danon disease as well as a variety of other cardiac disorders associated with impaired autophagy.
|
28526246 |
2017 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation).
|
28627787 |
2017 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review.
|
27497751 |
2017 |
|
Glycogen Storage Disease Type IIb
|
1.000 |
Biomarker
|
disease |
BEFREE |
A Critical Evaluation of Liver Pathology in Humans with Danon Disease and Experimental Correlates in a Rat Model of LAMP-2 Deficiency.
|
28124283 |
2017 |