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Lamp2 disease

TīmeklisNM_002294.3(LAMP2):c.183T>A (p.Tyr61Ter) AND Danon disease Clinical significance: Pathogenic (Last evaluated: Aug 27, 2024) Review status: 1 star out of maximum of 4 stars Tīmeklis2024. gada 14. maijs · In addition, extra lysosome-related mechanisms have been reported in diseases including atherosclerosis, neurodegenerative diseases, pancreatitis, autoimmune disorders, lysosomal storage disorders, and cancer. There are some interesting similarities among these mechanisms.

Systemic AAV9.LAMP2B injection reverses metabolic and ... - Science

Tīmeklis2024. gada 11. janv. · It is caused by a deficiency of lysosomal-associated membrane protein 2 ( LAMP2 ). Two unrelated boys who presented with severe hypertrophic … Tīmeklis2016. gada 15. sept. · This led to the identification of lysosome-associated membrane protein 2 (LAMP2) mutations in 4 of the 64 (6%) probands with HC, including 3 novel … ftr security https://beni-plugs.com

Frontiers Case Report: Identification of Mutations in LAMP2 …

Tīmeklis2008. gada 1. jūn. · Background: Danon disease (DD) is a rare disorder characterized by cardiomyopathy, intellectual disability, and proximal myopathy. It is caused by mutations in the LAMP2 gene on X chromosome. Tīmeklis2024. gada 2. okt. · Danon disease is a rare X-linked dominant genetic disorder caused by defects in the lysosome-associated membrane protein 2 (LAMP2) gene. Unless treated, cardiogenic death is the main cause of mortality. This case report describes a 19-year-old man who was diagnosed with Danon disease and survived for 3 years … Tīmeklis2009. gada 25. marts · Conclusions LAMP2 cardiomyopathy is a profound disease process characterized by progressive clinical deterioration leading rapidly to cardiac death in young patients (<25 years). These observations underscore the importance of timely molecular diagnosis for predicting prognosis and early consideration of heart … gildan 42000 white

A case report of delayed diagnosis of danon disease - LWW

Category:Glycogen storage disease - Wikipedia

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Lamp2 disease

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TīmeklisCells that lack LAMP2 express normal levels of VAMP8, ... DAND is a lysosomal glycogen storage disease characterized by the clinical triad of cardiomyopathy, … Tīmeklis2024. gada 6. okt. · 6 October 2024. Previous post. GSD due to glycogen debranching enzyme deficiency. Next post. GSDIV, adult neuromuscular form.

Lamp2 disease

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Tīmeklis2012. gada 14. jūn. · LAMP2 gene is located on Xq24, including nine exons (1–9a) and intron–exon junctions. 13 More than 60 mutations of LAMP2 gene have been … Tīmeklis2024. gada 30. janv. · Lamp2-/y mice recapitulate Danon disease, an X-linked lysosomal storage disorder characterized by (cardio)myopathy and intellectual dysfunction [17, 18]. Indeed, hippocampal dysfunction due to inflammation, and accumulation of autophagic vacuoles and lipid storage in neurons, reminiscent of …

TīmeklisLAMP2 mutations typically cause multisystem glycogen-storage disease (Danon's disease) but can also present as a primary cardiomyopathy. The glycogen-storage cardiomyopathy produced by... Tīmeklis2012. gada 1. maijs · Danon disease (DD) is a monogenic X-linked disorder characterized by cardiomyopathy, skeletal myopathy and variable degrees of …

Tīmeklis2024. gada 25. nov. · The LAMP2 mutations typically lead to multisystem glycogen-storage lysosomal disease but can also present as primary cardiomyopathy with cardiac-only symptoms, which is not frequent in the literature ( 1, 4 ). TīmeklisThe 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 …

Tīmeklis2024. gada 2. maijs · Danon disease (DD) is caused by the absence or malfunction of lysosomal-associated membrane protein 2 (LAMP2). Although Lamp2-deficient mice …

Tīmeklis2024. gada 10. marts · PMID 34943972. Cell surface membrane lysosome-associated membrane glycoprotein 2 promotes cell adhesion via abundant N-glycans in choriocarcinoma. Increased LAMP2A levels correlate with a shorter disease-free survival of HER2 negative breast cancer patients and increased breast cancer cell … ftr shirt aewTīmeklisFurthermore, LAMP2A efficiently prevented accumulation of the autophagy defect marker Ref (2)P/p62 in the adult brain under acute oxidative stress. These results … ftrs raolTīmeklis2005. gada 27. janv. · Conclusions: LAMP2 mutations typically cause multisystem glycogen-storage disease (Danon's disease) but can also present as a primary cardiomyopathy. The glycogen-storage cardiomyopathy produced by LAMP2 or PRKAG2 mutations resembles hypertrophic cardiomyopathy but is distinguished by … gildan 42000 shirts