WebMar 5, 2024 · National Center for Biotechnology Information WebDanon disease is an X-linked disorder clinically characterized by the triad of hypertrophic cardiomyopathy, myopathy, and intellectual disability. Danon disease: a phenotypic … com by seb Web1 3 Acta Neuropathol (2015) 129:391–398 DOI 10.1007/s00401-015-1385-4 REVIEW Danon disease: a phenotypic expression of LAMP‑2 deficiency Yukari Endo · Akiko Furuta · … WebJul 1, 2007 · Search worldwide, life-sciences literature Search. Advanced Search Coronavirus articles and preprints Search examples: "breast cancer" Smith J dry hemp leaves WebOct 15, 2024 · Introduction: Danon disease is an X-linked lysosomal condition that causes a deficiency of lysosome-associated membrane protein 2 (LAMP2) gene. It is … WebFeb 1, 2024 · Danon disease (DD) is an X-linked multisystem disorder with clinical features characterized by the triad of hypertrophic cardiomyopathy, skeletal muscle weakness, and mental retardation.Cardiac involvement can be fatal in the absence of an effective treatment option such as heart transplantation.Molecular studies have proved that LAMP-2 protein … combyshower leroy merlin WebJan 15, 2015 · This website requires cookies, and the limited processing of your personal data in order to function. By using the site you are agreeing to this as outlined in our …

WebMay 2, 2024 · LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease. ActaNeuropatholCommun 3 , 6 ... WebNov 24, 2024 · Danon disease usually manifests with the clinical triad of cardiomyopathy, skeletal myopathy, and intellectual disability. [ 4, 5, 6] The skeletal myopathy and intellectual disability are less common in females than in males. Cardiac findings. Heart murmurs can be noted upon examination. [ 2, 7] With advanced disease, signs of congestive heart ... com by ya meaning WebThe Danon disease iPSC-CM also demonstrates traits of heart failure, such as significantly increased expression of ANP and BNP in the diseased cell line . As the disease is due to phenotypic demonstration of the diseased allele, activating the previously silenced normal X-chromosome with the wildtype LAMP2 gene will rescue the diseased ... WebEndo, Y., Furuta, A., & Nishino, I. (2015). Danon disease: a phenotypic expression of LAMP-2 deficiency. Acta Neuropathologica, 129(3), 391–398. doi:10.1007/s00401 ... dry hire significado WebIntroduction. Danon disease (OMIM: 300257) is an X-linked dominant disorder caused by a defect of the lysosome-associated membrane protein 2 (LAMP2) gene ().LAMP2 is essential in the progress of the autophagosome maturation ().Mutations of LAMP2 identified in Danon disease lead to splicing defects or protein truncation, which underlies LAPM2 deficiency … WebOct 15, 2024 · Introduction: Danon disease is an X-linked lysosomal condition that causes a deficiency of lysosome-associated membrane protein 2 (LAMP2) gene. It is characterized clinically by a triad of skeletal myopathy, cardiomyopathy, and intellectual disability. Methods: We examined clinical, echocardiographic, and genetic data on 5 patients with … dry hip trays WebMar 25, 2009 · Metabolic myocardial storage diseases that mimic the clinical and phenotypic expression of hypertrophic cardiomyopathy (HCM) have recently been reported in young patients, 1 including those diseases due to mutations in the X-linked lysosome-associated membrane protein gene (LAMP2; OMIM 309060; Danon disease). …

WebFeb 9, 2024 · Previous section; Next section > Causes. Danon disease is caused by a change (mutation or variant) in a gene called LAMP2.To date, there are over 160 different variants in the LAMP2 gene identified in case reports and databases that could lead to Danon disease. Variants that lead to a complete absence of the LAMP2 protein have … dry hibiscus flower near me WebLAMP-2 deficiency in Danon disease has principal effects in cardiac muscle, neurons, and skeletal muscle, tissues in which the constituent cells are particularly active in … comby sign