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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

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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

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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/...

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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/...

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๐Ÿ“ Online now - the Review "Membranes as targets and modifiers of mutant huntingtin aggregation" from Justin Legleiter.

#HuntingtonsDisease #polyglutamine #amyloid #lipidbinding #neurodegeneration

Read it here ๐Ÿ‘‰ authors.elsevier.com/a/1ll3e_M0e4...

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Preview
Polyglutamine expansion induced dynamic misfolding of androgen receptor Spinal bulbar muscular atrophy (SBMA) is caused by a polyglutamine expansion (pQe) in the N-terminal transactivation domain of the human androgen receptor (AR-NTD), resulting in a combination of toxi...

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

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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/..)

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