Tīmeklis2024. gada 20. marts · The study is a non-randomized open-label Phase I clinical trial to characterize the safety and toxicity associated with infusion of a recombinant adeno-associated serotype 9 (rAAV9) capsid containing the human lysosome-associated membrane protein 2 isoform B (LAMP2B) transgene (investigational product (IP), RP … 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 ).
Entry - #300257 - DANON DISEASE - OMIM
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 1. maijs · This small presynaptic protein is central to both familial and sporadic Parkinson’s disease. In the brain, α-syn can exist in several forms including soluble unfolded monomeric and polymeric forms, as well as β-sheet-containing fibrils ( Mor et al., 2016 ). potd floor 100 boss
LAMP2 deficiency attenuates the neurodegeneration
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 … 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 and DD patients have similar characteristics, these ... Lysosome-associated membrane protein 2 (LAMP2), also known as CD107b (Cluster of Differentiation 107b) and Mac-3, is a human gene. Its protein, LAMP2, is one of the lysosome-associated membrane glycoproteins. The protein encoded by this gene is a member of a family of membrane glycoproteins. This … Skatīt vairāk The gene for LAMP2 has 9 coding exons and 2 alternate last exons, 9a and 9b. When the last exon is spliced with the alternative exon, it is a variant called LAMP2b, which varies in the last 11 amino acids of its C … Skatīt vairāk Lysosomes are cell organelles found in most animal cells. Their main functions center around breaking down materials and debris in the … Skatīt vairāk • CA77.1 • QX39 Skatīt vairāk • Chang MH, Karageorgos LE, Meikle PJ (2003). "CD107a (LAMP-1) and CD107b (LAMP-2)". Journal of Biological Regulators and Homeostatic Agents. 16 (2): 147–51. Skatīt vairāk LAMP2 has been specifically implicated in tumor cell metastasis. Both LAMP1 and LAMP2 have been found expressed on the surface of cancerous tumors, specifically in cells of highly metastatic cancer such as colon cancer and melanoma. They are rarely found on … Skatīt vairāk • Cluster of differentiation Skatīt vairāk • LAMP2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH) • PDBe-KB provides an … Skatīt vairāk potd ffxiv location