Identification of an oncogenic RAB protein.
New York City, United States. In Science, Nov 2015
Furthermore, oncogenic RAB35 is sufficient to drive platelet-derived growth factor receptor α to LAMP2-positive endomembranes in the absence of ligand, suggesting that there may be latent oncogenic potential in dysregulated endomembrane trafficking.
Danon disease: a phenotypic expression of LAMP-2 deficiency.
Kodaira, Japan. In Acta Neuropathol, Mar 2015
Danon disease is caused by loss-of-function mutations in the LAMP2 gene, which encodes lysosome-associated membrane protein 2 (LAMP-2), a single-spanned transmembrane protein localized in the limiting membranes of lysosomes and late endosomes.
Genetic profile of hypertrophic cardiomyopathy in Tunisia: Is it different?
Monastir, Tunisia. In Glob Cardiol Sci Pract, 2014
Using the Illumina platform, a panel of 12 genes was analyzed including myosin binding protein C (MYBPC3), beta-myosin heavy chain (MYH7), regulatory and essential light chains (MYL2 and MYL3), troponin-T (TNNT2), troponin-I (TNNI3), troponin-C (TNNC1), alpha-tropomyosin (TPM1), alpha-actin (ACTC1), alpha-actinin-2 (ACTN2) as well as alfa-galactosidase (GLA), 5'-AMP-activated protein (PKRAG2), transthyretin (TTR) and lysosomal-associated membrane protein-2 (LAMP2) for exclusion of phenocopies.
ANCA-associated renal vasculitis - an update.
Praha, Czech Republic. In Contrib Nephrol, 2012
Recent discovery of new autoantibodies (anti-LAMP-2) and the role of complement activation in the pathogenesis of AAV could result in better monitoring of the activity of the disease and identification of new treatment targets.
Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy.
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Minneapolis, United States. In Jama, 2009
CONTEXT: Mutations in X-linked lysosome-associated membrane protein gene (LAMP2; Danon disease) produce a cardiomyopathy in young patients that clinically mimics severe hypertrophic cardiomyopathy (HCM) due to sarcomere protein mutations.