2024 Multisystemic lamp-2 defect in danon disease

Multisystemic lamp-2 defect in danon disease

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August undefined, 2024

Web9 feb. 2024 · Danon disease is a rare genetic disorder characterized by an X-linked dominant inheritance pattern, so males are more severely affected than females. WebDanon disease - dysregulation of autophagy in a multisystem disorder with cardiomyopathy. Danon disease is a rare, severe X-linked form of cardiomyopathy caused by deficiency …

Identification of Two Novel Lamp2 Gene Mutations In Danon …

WebMultisystemic LAMP-2 defect in Danon disease (PDF) Multisystemic LAMP-2 defect in Danon disease Marco Spinazzi - Academia.edu Academia.edu no longer supports … WebLAMP2. LAMP2 mutations produce the multisystemic disorder, Danon disease, in which neurologic, skeletal muscle, and hepatic involvement occur with cardiomyopathy. From: … classification of erythromycin ointment

Danon disease: a phenotypic expression of LAMP-2 deficiency

WebDanon disease is a severe X-linked disorder caused by deficiency of the lysosome-associated membrane protein-2 (LAMP-2). Clinical manifestations are phenotypically … WebDownload Table Previous Reports of LAMP2 Mutations in Danon Disease from publication: Novel LAMP-2 Mutation in a Family With Danon Disease Presenting With … WebNormal Function The LAMP2 gene provides instructions for making a protein called lysosomal associated membrane protein-2 (LAMP-2), which, as its name suggests, is found in the membrane of cellular structures called lysosomes. Lysosomes are compartments in the cell that digest and recycle materials. download postgresql 12 for linux

Multisystemic LAMP-2 defect in Danon disease - Academia.edu

LAMP2 gene: MedlinePlus Genetics

Web2 feb. 2024 · Danon disease is a type of lysosomal glycogen storage disease with normal acid maltase. 1 Danon disease is a rare X-linked dominant genetic disorder caused by loss-of-function mutations in the lysosome-associated membrane protein 2 ( LAMP-2) gene. Web31 iul. 2024 · Danon disease is a severe X-linked disorder caused by deficiency of the lysosome-associated membrane protein-2 (LAMP-2). Clinical manifestations are … download postgre for windows 10Web1 mai 2024 · It is caused by a defect in the lysosomal-associated membrane protein-2 (LAMP2) gene, which leads to the formation of autophagic vacuoles containing glycogen granule deposits in skeletal and cardiac muscle fibers. So far, more than 50 different mutations in LAMP2 have been identified. Case presentation: download postgis for windows

"Webmembrane protein 2 (LAMP-2) were shown to cause a LAMP-2 deficiency in patients with Danon disease.LAMP-2 deficient mice manifest a similar vacuolar cardioskeletal … " - Multisystemic lamp-2 defect in danon disease

Multisystemic lamp-2 defect in danon disease

LAMP2 microdeletions in patients with Danon disease.

Web1 feb. 2008 · Danon disease is caused by primary deficiency of lysosome-associated membrane protein-2 (LAMP-2). This protein is encoded by the Lamp-2 gene that maps … WebMultisystemic LAMP-2 defect in Danon disease (PDF) Multisystemic LAMP-2 defect in Danon disease M. Fanin, Elisabetta Tasca, and Paola Melacini - Academia.edu …

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Web1 iun. 2016 · ABSTRACT Danon disease is a rare, severe X-linked form of cardiomyopathy caused by deficiency of lysosome-associated membrane protein 2 (LAMP-2). Other clinical manifestations include skeletal myopathy, cognitive defects and visual problems. WebTo investigate the effects of LAMP2 gene mutations on protein expression in different tissues, we screened LAMP2 gene mutations and LAMP-2 protein deficiency in the skeletal muscle of 9 unrelated patients with …

WebDanon disease is a rare X-linked inherited disorder caused by mutations of the lysosome-associated mem-brane protein-2 gene (LAMP2). The disease leads to deficiency of LAMP-2, a highly glycosylated integral membrane protein . WebDanon disease is an X-linked dominant disorder due to mutations in the LAMP2 gene, presenting with hypertrophic cardiomyopathy, skeletal myopathy and mental …

WebLAMP-2 protein deficiency was detectable in various tissues indicating that the biochemical diagnosis can be obtained on leukocytes and might be used for … Web1 iul. 2007 · The discovery of LAMP-2 deficiency in Danon disease ushered a new group of lysosomal diseases, those due to defects in lysosomal structural proteins rather than …

WebM.P.4.11 Extension of the clinical spectrum of Danon’s disease. A novel missense mutation in the splice variant B of the LAMP2 gene leads to myopathy, with mild cardiac abnormalities, retinopathy and no evident mental retardation

WebEnter the email address you signed up with and we'll email you a reset link. classification of euphemismWeb1 iun. 2016 · Danon disease is a rare, severe X-linked form of cardiomyopathy caused by deficiency of lysosome-associated membrane protein 2 (LAMP-2). Other clinical manifestations include skeletal myopathy, cognitive defects and visual problems. classification of face maskWeb2 oct. 2024 · Danon disease is a metabolic disorder first described in a report on 2 boys with cardiomyopathy, skeletal myopathy, and intellectual disability. [1] This rare X-linked dominant genetic disorder was found to be caused by defects in the lysosome-associated membrane protein 2 (LAMP2) gene. classification of electrical instrumentsWebLAMP-2 is required for the maturation of autophagosomes by fusion with lysosomes; therefore, LAMP-2 deficiency leads to a failure in macroautophagy. There are three … download postgresql 14 for linuxWeb1 ian. 2001 · LAMP-2 is one of the proteins of the lysosomal membrane 6. and the deficiency is caused by mutations in the coding sequence of the gene. Interestingly, that … classification of extraction socketsWebLAMP-2 protein deficiency was detectable in various tissues indicating that the biochemical diagnosis can be obtained on leukocytes and might be used for screening in male … classification of fentanyl drughttp://www.bio.unipd.it/bam/PDF/17-3&4/Fanin.pdf classification of elements pdf ncert