Villavicencio Gonzalez and Zoghbi review emerging insights into how proteins with an expanded #polyglutamine tract disrupt distinct cellular functions, and examine a multitude of discoveries that are inspiring and reshaping novel therapeutic strategies. rupress.org/jem/article/...
#Neuroscience
Pathogenesis of #polyglutamine diseases: Piecing together a complex molecular puzzle. New review from Esmeralda Villavicencio Gonzalez and Huda Zoghbi @bcmhouston.bsky.social: rupress.org/jem/article/...
#HumanDiseaseGenetics #Neuroscience
Are you interested in the link between #polyglutamine and #neurodegeneration? E. Villavicencio & H. Zoghbi have just published a #review about it. @jem.org @bcmhouston.bsky.social #TexasChildrens @bcmgenetics.bsky.social @bcmneurosci.bsky.social rupress.org/jem/article/...
Review: Villavicencio Gonzalez and Zoghbi integrate established and emerging insights into the pathogenic mechanisms of #polyglutamine disorders, emphasizing recent discoveries on transcriptional dysregulation, somatic expansion, protein accumulation, & cellular toxicity rupress.org/jem/article/...
๐ Online now - the Review "Membranes as targets and modifiers of mutant huntingtin aggregation" from Justin Legleiter.
#HuntingtonsDisease #polyglutamine #amyloid #lipidbinding #neurodegeneration
Read it here ๐ authors.elsevier.com/a/1ll3e_M0e4...
The first model of full length human androgen receptor and its polyQ expanded variant!
onlinelibrary.wiley.com/doi/full/10....
onlinelibrary.wiley.com/doi/full/10....
#endocrinology #androgen #hormone #receptor #SBMA #polyglutamine #prostate
The mutation is at first glance a bit unusual, but it is actually far from unique: a repeating sequence of CAG codons has been expanded in HD patients. This translates to huntingtin (HTT) proteins featuring an expanded #polyglutamine (or #polyQ) segment. HD patients have >35 glutamines. (2/..)