#polyq — Public Fediverse posts

New article @hdbuzzfeed.bsky.social about AMT-130: “UniQure and FDA No Longer in Alignment on Approval Pathway for AMT-130” en.hdbuzz.net/uniqure-and-... #huntingtonsdisease #polyQ

UniQure and FDA No Longer in A...

New review article “Pathogenesis of polyglutamine diseases: Piecing together a complex molecular puzzle” by Esmeralda Villavicencio Gonzalez and Huda Zoghbi in the Journal of Experimental Medicine: doi.org/10.1084/jem.... #polyQ #huntingtonsdisease #ataxia

Pathogenesis of polyglutamine ...

Exogenous Huntingtin-Exon1 Aggregates Exhibit Distinct Levels of Toxicity to Caenorhabditis elegans | ACS Chemical Neuroscience pubs.acs.org/doi/abs/10.1... Interesting new paper on fundamental mechanisms in #huntingtonsdisease by Justin Legleiter’s team at the Univ of Nevada #polyQ

Exogenous Huntingtin-Exon1 Agg...

Looking forward to the European #huntingtonsdisease network ( #EHDN) meeting next week, in beautiful Strasbourg (https://ehdn.org/ehdn2024/ ). It looks like a great line-up of speakers and topics, and offers a chance to catch up with fellow HD researchers (and collaborators). Are you there too? #polyQ

Our latest (review) article is now available online: https://doi.org/10.1042/BST20230731 in the journal Biochemical Transactions. In this invited article “Solid-state nuclear magnetic resonance in the structural study of polyglutamine aggregation”, I have reviewed the contributions that solid-state #NMR #SSNMR has made to our understanding of the mutant protein aggregates in #huntingtonsdisease and related #polyQ disorders. (1/2)

Yay! It is now online: our latest paper on the use #NMR spectroscopy to look at #amyloid formation by #polyQ peptides outfitted with a backbone modification, which allows photochemical control over beta-hairpin formation. Together with the groups of Szymanski and Feringa in #Groningen. A great new tool for studies of #amyloid formation mechanisms.

https://pubs.acs.org/doi/10.1021/jacs.3c11155
#photochemistry #NMR #huntingtonsdisease #amyloid

Sign up now! HDF Foundation webinar about the protein that is mutated in #huntingtonsdisease. Presented by J. Frydman and N. Barbosa from Stanford University - happening tomorrow!! https://www.hdfoundation.org/webinars #polyQ #amyloid #biophysics

Interesting webinar about #HuntingtonsDisease is coming on Sept 28th 2023, via the #HDF foundation: https://www.hdfoundation.org/webinars
An online presentation by Judith Frydman and Natalia Barbosa (#Stanford) talking about “How expanding our knowledge of the Huntington's protein can unlock new therapies”. (A statement I fully agree with - to address a protein misfolding disease like HD, we need to understand what this #misfolding process really is!) #polyQ #huntingtondisease #biophysics

Interesting webinar about #HuntingtonsDisease is coming on Sept 28th 2023, via the #HDF foundation: https://www.hdfoundation.org/webinars
An online presentation by Judith Frydman and Natalia Barbosa (#Stanford) talking about “How expanding our knowledge of the Huntington's protein can unlock new therapies”. (A statement I fully agree with - to address a protein misfolding disease like HD, we need to understand what this #misfolding process really is!) #polyQ #huntingtondisease #biophysics

Interesting webinar about #HuntingtonsDisease is coming on Sept 28th 2023, via the #HDF foundation: https://www.hdfoundation.org/webinars
An online presentation by Judith Frydman and Natalia Barbosa (#Stanford) talking about “How expanding our knowledge of the Huntington's protein can unlock new therapies”. (A statement I fully agree with - to address a protein misfolding disease like HD, we need to understand what this #misfolding process really is!) #polyQ #huntingtondisease #biophysics

Interesting webinar about #HuntingtonsDisease is coming on Sept 28th 2023, via the #HDF foundation: https://www.hdfoundation.org/webinars
An online presentation by Judith Frydman and Natalia Barbosa (#Stanford) talking about “How expanding our knowledge of the Huntington's protein can unlock new therapies”. (A statement I fully agree with - to address a protein misfolding disease like HD, we need to understand what this #misfolding process really is!) #polyQ #huntingtondisease #biophysics

Don’t miss the #iupacchains2023 parallel session 10 on Structural Biology and Protein Design at 10:20am - see the talk by my PhD student Raffaella Parlato! She will talk about our work with Wiktor Szymanski’s team (also University of #Groningen) - enabling #photochemical control over #polyQ #amyloid formation & structure. #ssNMR #chemistry

.. it is perhaps worth a comment that the already mentioned #polyQ segment is the site of mutation in HD and multiple other inherited diseases. When expanded, this polyQ segment makes the protein (fragment) ever more likely to form aggregates. These protein deposits are found in patients and are considered key biomarkers of disease (eg in clinical trials). But there is also evidence that these protein deposits may not be innocent bystanders to disease..

…Fortunately we can combine EM with NMR (and X-ray and ..) to fill in the gaps. Here, thoughtful use of MD is critical… and indeed it gives us here a truly integrative view of the fibril structure- both the core and the exposed surface segments.

These exposed flanking segments (outside the mutated #polyQ) end up on the outside of the fibrils where they likely play critical roles in the biological/ cellular properties of protein aggregates like this…

… using in-depth #moleculardynamics simulation to integrate various experimental constraint provides an unprecedented view of the structure of the misfolded protein aggregates, with a central role (of course) for new and existing #ssNMR data. These #polyQ protein fibrils are tough for #cryoEM due to structural and dynamic heterogeneity.
….

Well, just got back from the FASEB protein aggregation conference #PACSRC in Ireland. As usual, it was a great event with a never-ending stream of cool science. Quite a few #amyloid structures discusses, based on #ssNMR and #cryoEM . I briefly talked about our own integrative structural biology work on the fibrils made by mutant huntingtin fragments #huntingtonsdisease , as well as our work with aggregation inhibitors (and how they reveal features of the aggregation mechanism) #polyQ

Excited to again attend the annual Dutch Huntington research meeting, Monday next week! I guess this is sort of the 2022 version in early 2023 :) Hosted at uniQure in Amsterdam, with many interesting speakers and posters. Come to hear about our ongoing work on figuring out how #polyQ proteins misfold and aggregate, and how we try to prevent and change that bad protein behavior. We are looking forward to see you there! #huntingtondisease #amyloid
More info: http://huntingtonresearch.nl

Excited to again attend the annual Dutch Huntington research meeting, Monday next week! I guess this is sort of the 2022 version in early 2023 :) Hosted at uniQure in Amsterdam, with many interesting speakers and posters. Come to hear about our ongoing work on figuring out how #polyQ proteins misfold and aggregate, and how we try to prevent and change that bad protein behavior. We are looking forward to see you there! #huntingtondisease #amyloid
More info: http://huntingtonresearch.nl

Excited to again attend the annual Dutch Huntington research meeting, Monday next week! I guess this is sort of the 2022 version in early 2023 :) Hosted at uniQure in Amsterdam, with many interesting speakers and posters. Come to hear about our ongoing work on figuring out how #polyQ proteins misfold and aggregate, and how we try to prevent and change that bad protein behavior. We are looking forward to see you there! #huntingtondisease #amyloid
More info: http://huntingtonresearch.nl

Excited to again attend the annual Dutch Huntington research meeting, Monday next week! I guess this is sort of the 2022 version in early 2023 :) Hosted at uniQure in Amsterdam, with many interesting speakers and posters. Come to hear about our ongoing work on figuring out how #polyQ proteins misfold and aggregate, and how we try to prevent and change that bad protein behavior. We are looking forward to see you there! #huntingtondisease #amyloid
More info: http://huntingtonresearch.nl

Excited to again attend the annual Dutch Huntington research meeting, Monday next week! I guess this is sort of the 2022 version in early 2023 :) Hosted at uniQure in Amsterdam, with many interesting speakers and posters. Come to hear about our ongoing work on figuring out how #polyQ proteins misfold and aggregate, and how we try to prevent and change that bad protein behavior. We are looking forward to see you there! #huntingtondisease #amyloid
More info: http://huntingtonresearch.nl

Some more focus on Huntington's disease and other CAG repeat expansion disorders ( #polyQ) at the GRC on this topic: in Vermont (USA) from June 11 - June 16th. https://www.grc.org/cag-triplet-repeat-disorders-conference/2023/ #HuntingtonsDisease

(It is in part a follow-up on our earlier collaborative paper, more focused on the #DNP #SSNMR analysis of unlabeled #polyQ #protein #amyloids - https://pubs.acs.org/doi/10.1021/jacs.8b09002 )

Our department at the Zernike Institute for Advanced Materials of the University of #Groningen is highlighting Raffaella Parlato from my #SSNMR group in this year's advent calendar: Raffaella's research focuses on #HuntingtonsDisease, a rare and neurodegenerative disease caused by #polyQ #protein aggregation into #amyloid fibrils . Read more: https://www.rug.nl/research/zernike/news/newsitems/20221220-day20-parlato

Now online in pre-proof status, at the journal #SSNMR : a new collaborative paper on #DNP ssNMR at 13C natural abundance: "Fast magic angle spinning for the characterization of milligram quantities of organic and biological solids at natural isotopic abundance by 13C–13C correlation DNP-enhanced #NMR" . With Gaël De Paëpe, Snorri Sigurdsson and Sabine Hediger. Includes some new data of unlabeled #polyQ #amyloid aggregates. https://www.sciencedirect.com/science/article/pii/S0926204022000790 #nmrchat

A belated #introduction here - I am an associate professor at the University of Groningen (Netherlands). My research centers on solid state #NMR ( #ssNMR ) and how to best use it in (structural) biology and materials science. A special focus of my research has been on Huntington disease, where we study how #polyQ proteins form #amyloid like fibrils. In recent years we are also doing an increasing amount of SSNMR on materials (since I joined the Zernike Institute for Advanced Materials )

@yolandapereznmr @nmr900 @DNPFred (yes #polyQ is rock solid)

Now online before final proofs: https://www.sciencedirect.com/science/article/pii/S2590152422000186 Selective observation of semi-rigid non-core residues in dynamically complex mutant huntingtin protein fibrils. Using #ssNMR to study dynamic surface of rigid #polyQ fibrils.