Lamp2 danon disease
Tīmeklis2024. gada 21. marts · LAMP2 (Lysosomal Associated Membrane Protein 2) is a Protein Coding gene. Diseases associated with LAMP2 include Danon Disease and Left Ventricular Noncompaction . Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Innate Immune System . TīmeklisDanon disease (DD) is a rare, X-linked genetic disorder caused by LAMP2 deficiency. Clinical phenotype involves early cardiomyopathy development along with pre …
Lamp2 danon disease
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TīmeklisDanon disease, which is brought on by a change (mutation) in the LAMP2 gene. Currently, case reports and databases have identified approximately 160 distinct LAMP2 gene variants that have the ... TīmeklisDanon disease is an X-linked disorder clinically characterized by the triad of hypertrophic cardiomyopathy, myopathy, and intellectual disability. …
Tīmeklis2024. gada 8. janv. · Danon disease is a rare X-linked dominant genetic disorder that manifests with the clinical triad of cardiomyopathy, skeletal myopathy, and … TīmeklisDanon disease - About the Disease - Genetic and Rare Diseases Information Center National Center for Advancing Translational Sciences Browse by Disease About …
TīmeklisLAMP-2 deficiency (Danon disease) LAMP-2 deficiency (Danon disease) LAMP-2 deficiency (Danon disease) Acta Myol. 2007 Jul;26(1):79-82. Authors S Di Mauro 1 , … TīmeklisDanon disease is caused by mutations in the LAMP2 gene, which contains instructions for the production of an enzyme called lysosomal associated membrane protein-2 (LAMP-2). This enzyme is thought to assist with the transportation of cellular material into the lysosomes of the cell, where the materials are normally broken down and …
TīmeklisDanon disease is a rare, semidominant X-linked disorder that results from primary deficiency of lysosome-associated membrane protein 2 (LAMP2 ). 47,83 Cardiac symptoms typically begin during adolescence with progressive HF that results in death or cardiac transplantation in the third decade.
Tīmeklis2024. gada 28. aug. · LAMP2 mutations that encode null alleles cause multisystem Danon disease with neurologic, hepatic, skeletal and cardiac muscle abnormalities. 1 In some patients/families, LAMP2 mutations primarily cause cardiomyopathy, which accounts for ≈1%–3% of unexplained cardiac hypertrophy in adolescents and young … the queen\u0027s nose cbbcTīmeklis2024. gada 9. febr. · Danon disease is a rare genetic disorder characterized by an X-linked dominant inheritance pattern, so males are more severely affected than … the queen\u0027s own groveTīmeklis2012. gada 1. maijs · Danon disease (DD) is a monogenic X-linked disorder characterized by cardiomyopathy, skeletal myopathy and variable degrees of … the queen\u0027s necklace bookTīmeklis2024. gada 17. jūn. · Of particular interest is the Xq24 chromosomal region harboring LAMP2, whose mutations cause Danon disease. Several large deletions that alter the LAMP2 exon copy number have been described in male patients with Danon disease and involve repetitive sequence motifs, such as Alu-mediated or TA-rich repeat … the queen\u0027s nose dick king smithTīmeklisDanon Disease is caused by a problem in the LAMP2 gene. This gene produces the LAMP-2 (Lysosomal Associated Membrane Protein-2) enzyme, which is involved in the process of digesting and recycling damaged or obsolete materials in your cells. The process is needed to keep cells healthy and to reduce the risk of disease or the … sign in to adobe reader accountTīmeklisDanon disease involves a genetic defect (mutation) in a gene called LAMP2, which results in a change to the normal protein structure. While the function of the LAMP2 gene is not well understood, it is known that LAMP2 protein is primarily located in small structures within cells called lysosomes. [citation needed] Genetics [ edit] sign in to adobe signTīmeklis2024. gada 11. janv. · Danon disease (DD) is a monogenic lysosomal storage disorder characterized by cardiomyopathy, skeletal myopathy, and variable … sign into adobe using school account