Multisystemic lamp-2 defect in danon disease

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August undefined, 2024

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 … WebDanon disease is an X-linked dominant disorder due to mutations in the LAMP2 gene, presenting with hypertrophic cardiomyopathy, skeletal myopathy and mental …

Danon disease: a phenotypic expression of LAMP-2 deficiency

WebLAMP-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 … WebLa malaltia de Danon és una malaltia amb un fort component genètic amb un patró d' herència dominant lligat al cromosoma X que es caracteritza per la deficiència de la proteïna lisosòmica LAMP 2 (de l'anglès Lysosome associated membrane protein, proteïna lisosomal associada a membrana) i predominantment afecta el múscul esquelètic. data meeting forms for elementary school

LAMP2 microdeletions in patients with Danon disease.

WebEnter the email address you signed up with and we'll email you a reset link. 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. WebMultisystemic LAMP-2 defect in Danon disease Danon disease is an X-linked dominant disorder due to mutations in the LAMP2 gene, presenting with hypertrophic cardiomyopathy, skeletal myopathy and mental retardation. To investigate the effects of LAMP2 gene mutations on protein expression in different tissues, we screened LAMP2 gene … data may be defined as

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

- 181-Multisystemic LAMP-2 defect in Danon disease

Web1 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: 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 . data measurement frameworkWebDanon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying cognitive dysfunction. Males are typically more severely affected than females. bits and pieces paisley

"Web1 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 … " - Multisystemic lamp-2 defect in danon disease

Multisystemic lamp-2 defect in danon disease

Danon disease: Case report and detection of new mutation

WebLAMP-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 … Web24 nov. 2024 · Specific neurologic symptoms Male patients with Danon disease have weakness of the proximal extremities and neck muscles in the pattern of a limb-girdle muscular dystrophy. The weakness slowly...

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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 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.

WebAbstract. Danon disease, an X-linked dominant disorder, results from mutations in the lysosome-associated membrane protein-2 (LAMP2) gene and presents with hypertrophic … WebAbstract Introduction: Danon disease is an extremely rare X-linked dominant disorder characterized by progressive cardiomyopathy, muscle weakness, and mild mental retardation. Most cases harbor nonsense, frameshift, or splice-site mutations in LAMP2 that result in lysosome-associated membrane protein-2 (LAMP-2) deficiency and lysosomal …

WebDownload Table CLINICAL AND MOLECULAR DATA from publication: Multisystemic LAMP-2 defect in Danon disease Danon disease is an X-linked dominant disorder … Web1 mar. 2016 · Danon disease has been associated with mutations in the lysosome-associated membrane glycoprotein 2 (LAMP2) gene located at Xq24, typically resulting …

Web1 mai 2024 · Danon disease (DD) is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and mental retardation. It is caused by a defect in the lysosomal-associated membrane protein-2 (LAMP2) gene, …

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. data measurement in researchWeb31 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 … data member and member function in c++WebKeywords Danon disease; IQ; cognition; psychiatric comorbidities; LAMP2; Cardiomyopathy; Wolff- Parkinson-White syndrome Introduction Danon disease (DD) is an X-linked metabolic disorder, also referred to as lysosomal glycogen storage disease (type IIb or Pompe with normal acid maltase; Danon et al., 1981). bits and pieces peacock wind spinnerWeb1 ian. 2007 · LAMP-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 … bits and pieces peppy puppy data member and member functionWebexpression of LAMP-2 protein in different tissues other than striated muscle, because the defect of LAMP-2 in various cell types would explain the multisystem … bits and pieces phone numberhttp://www.bio.unipd.it/bam/PDF/17-3&4/Fanin.pdf bits and pieces photography