Lamp2 danon disease

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August undefined, 2024

TīmeklisDanon 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] Tīmeklis2024. gada 8. janv. · Mutations in lysosomal-associated membrane protein 2 ( LAMP-2) gene are associated with Danon disease, which often leads to cardiomyopathy/heart failure through poorly defined mechanisms. Here, we identify the LAMP-2 isoform B (LAMP-2B) as required for autophagosome-lysosome fusion in human …

LAMP2 lysosomal associated membrane protein 2

Tīmeklis2024. gada 10. marts · Go to Variation Viewer for LAMP2 variants Summary The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the … Tīmeklis2024. gada 1. maijs · Danon disease: a case report and literature review We found a novel frameshift mutation, a hemizygous mutation (c.1052delG) in exon 8 of LAMP2, identified as presenting the hypertrophic cardiomyopathy (HCM) phenotype. pictures of amaud arbery

Frontiers Case Report: Identification of Mutations in LAMP2 in …

TīmeklisGlycogen storage disease type IX is a hereditary deficiency of glycogen phosphorylase kinase B that affects the liver and skeletal muscle tissue. It is inherited in an X-linked or autosomal recessive manner. Signs and symptoms. The signs and symptoms in glycogen storage disease type IX include: Tīmeklis2024. gada 10. marts · LAMP2. lysosomal associated membrane protein 2. Gene ID: 3920, updated on 10-Mar-2024. Gene type: protein coding. Also known as: DND; … Tīmeklis2012. gada 14. jūn. · Danon disease is a rare X-linked dominant lysosomal disease due to the primary deficiency of lysosome-associated membrane protein 2 (LAMP2) gene. Cardiomyopathy, skeletal myopathy and... pictures of a mat

LAMP2 lysosomal associated membrane protein 2

Danon disease: a focus on processing of the novel LAMP2 ... - PubMed

Tīmeklis2024. 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 … 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 ... pictures of a mayflyTīmeklisDanon disease (previously known as GSD IIb, or pseudo Pompe disease with normal GAA activity) is an X-linked recessive lysosomal glycogen storage disease caused by mutations in the lysosomal-associated membrane protein 2 or LAMP2 gene (OMIM 309060) located at chromosomal position Xq24. top gun end credit

"Tīmeklis2012. gada 14. jūn. · Danon disease is a rare X-linked dominant lysosomal disease due to the primary deficiency of lysosome-associated membrane protein 2 (LAMP2) … " - Lamp2 danon disease

Lamp2 danon disease

LAMP-2 deficiency (Danon disease) - PubMed

TīmeklisDanon disease (DD) is a rare, X-linked genetic disorder caused by LAMP2 deficiency. Clinical phenotype involves early cardiomyopathy development along with pre … TīmeklisFigure 1 The expression of PHLPP in bortezomib-resistant MM cells. (A) Western blot analyses of the expression of PHLPP, LAMP2, and key autophagy signaling molecules in bone marrow samples from patients with MM (upper), and quantification of the bands (lower).(B) Western blot analyses of the expression of PHLPP, LAMP2, and key …

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TīmeklisA number sign (#) is used with this entry because of evidence that Danon disease, also known as X-linked vacuolar cardiomyopathy and myopathy, is caused by mutation in … Tīmeklis2024. gada 31. okt. · Danon disease (DD), a rare X-linked genetic illness with a poor prognosis, is caused by a mutation in the lysosome-associated membrane protein 2 gene ( LAMP2 ). Three main clinical features...

Tīmeklis2024. gada 18. marts · Danon disease (DD) is a rare X-linked autophagic vacuolar myopathy associated with multiorgan dysfunction, including the heart, skeletal … TīmeklisDanon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study. Splice variants of lysosomeassociated …

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 , … Tīmeklis2024. gada 5. marts · Danon disease is caused by a deficiency of LAMP-2 (lysosome-associated membrane protein 2). The condition was originally …

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 …

Tīmeklis2024. gada 1. apr. · Danon disease (DD) is a rare, X-linked monogenic cardiomyopathy caused by mutations in the LAMP2 gene which is essential for autophagy. In male patients, DD is characterized by a severe, progressive hypertrophic cardiomyopathy and arrhythmias resulting in median mortality under 20 years (y). top gun english subtitlesTīmeklisMalaltia de Danon; Tipus: malaltia per dipòsit lisosòmic, miocardiopatia hipertròfica, síndrome associat a cardiomiopatia hipertròfica, malaltia lisosòmica amb miocardiopatia hipertròfica, glicogenosi muscular, glycogen storage disease with hypertrophic cardiomyopathy (en), lysosomal glycogen storage disease (en), malaltia … top gun ds graphicsTīmeklis2015. gada 15. janv. · Danon disease is a rare disease caused by glycogen storage lysosomal disorder. It is related to the pathogenic mutation of the LAMP2 gene. In this case report, we present a patient with a novel ... top gun english streamTīmeklisNormal Function The LAMP2 gene provides instructions for making a protein called lysosomal associated membrane protein-2 (LAMP-2), which, as its name suggests, is … pictures of a maybach carTīmeklis2024. 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 … pictures of amaryllis flowerTīmeklisDanon disease (DD) is a rare X-linked autophagic vacuolar myopathy associated with multiorgan dysfunction, including the heart, skeletal muscle, and liver. There are no … pictures of a maxxforce 9 2012 modelTīmeklis结论. Danon病是一种罕见的LAMP2基因突变导致的疾病，以肥厚型心肌病为典型临床表现。心肌细胞空泡变性是典型组织学特征，心肌细胞内糖原颗粒异常聚积为超微结构特征，结合LAMP2基因突变即可确诊Danon病；熟悉该病的临床病理学特征可避免漏诊。 pictures of amaya from rainbow high