The human embryonic stem cell (hESC) linechHES-458 was derived from a abnormal blastocyst carrying the expanded CAG repeat mutation of theHTTgene that would lead to Huntington disease. This cell line maintained a normal karyotype 46, XX during long-term culture and displayed pluripotent ...
B23 Influence of mycoplasma arginini on inflammatory response and energy metabolism in human cells with and without HTT gene mutationhost-pathogen interactionsinflammatory response and energy metabolism modulationBackground Mycoplasma sp. include the self-replicating bacteria with the smallest genome and ...
HTT Dictionary Medical Encyclopedia Wikipedia Category filter: AcronymDefinition HTTHead to Toe HTTHot to Trot HTTHyper-Threading Technology(Intel) HTTHow-to Tip HTTHyper Threading Technology HTTHyper Text Template HTTHappy to Translate(UK) HTTHuman Touch Technology ...
et al. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87, 493–506 (1996). Article CAS Google Scholar Liu, H. et al. Nuclear cGAS suppresses DNA repair and promotes tumorigenesis. Nature 563, 131–...
Votoplam: 一种HTT基因调节剂、splicing factor调节剂药物,由PTC Therapeutics, Inc. (PTC Therapeutics, Inc.)公司最早进行研发,目前全球最高研发状态为临床2期,作用机制: HTT基因调节剂,splicing factor调节剂(剪接因子调节剂),治疗领域: 神经系统疾病,遗传病与畸形,
Europe and East Asia Simon C Warby1, Henk Visscher1, Jennifer A Collins1, Crystal N Doty1, Catherine Carter1, Stefanie L Butland1, Anna R Hayden1, Ichiro Kanazawa2, Colin J Ross1 and Michael R Hayden*,1 Huntington disease (HD) results from CAG expansion in the huntingtin (HTT) gene....
What was the significance of the protein modification observed in AON-treated YAC128 mice? What were the key findings regarding gene expression changes in aCSF-treated YAC128 mice compared to wild-type mice? How does AON12.1 modify the Huntingtin (HTT) protein to reduce proteolytic cleavage?
To gain further mechanistic insight into the DNAJB1 structure, its interaction with HTTExon1Q48, and the effect of the H244A mutation, we performed in silico analyses using molecular dynamics (MD) simulations. First, a DNAJB1wtmodel was constructed from a DNAJB1 crystal structure (pdb: 3agz...
Huntington’s disease (HD) is a dominantly inherited neurodegenerative disorder caused by a CAG trinucleotide expansion in the huntingtin gene (HTT), which codes for the pathologic mutant HTT (mHTT) protein. Since normal HTT is thought to be important fo
The causative mutation is an abnormally expanded CAG tract in the 5'coding region of the htt gene that is translated into a long polyglutamine (polyQ) stretch in the N-terminal part of the protein. HD occurs when there are more than the threshold of 36 glutamines. The mechanisms leading ...