FrattaLab
@FrattaLab
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FrattaLab @UCLIoN working on #RNA biology of #ALS and #SBMA and #Kennedy's disease
Joined November 2019
Great perspective from Yi Zeng and Aaron Gitler. Wonderful collaborations and long journey with @ClaireLePichon and @ule_lab. And funding to start and now continue the work from UCL NgTP/@SRausingTrust @The_MRC @mndassoc @MNDoddie5 @TheCrick.
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Out @ScienceMagazine! New tech to activate ALS gene therapies only in the right cells at the right time - Increased safety to have more options for ALS. We do it by taking advantage of cryptic splicing. @UCLIoN @TheCrick @OscarWilkins16 @MaxZYJChien.
www.science.org
Loss of function of the RNA-binding protein TDP-43 (TDP-LOF) is a hallmark of amyotrophic lateral sclerosis (ALS) and other neurodegenerative disorders. Here we describe TDP-REG, which exploits the...
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RT @arianna_tucci: #RepeatExpansionDisorders are up to three times more common than current estimates. Underdiagnosis or reduced penetrance….
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We find TDP-43 loss to cause presynaptic defects, which are rescued by ASOs correcting a single cryptic exon in UNC13A. Surprising effect of just one cryptic exon and promising strategy for ALS!.Matt Keuss @PeteHarley95 in great collaboration with @jbneuro.
www.biorxiv.org
TDP-43 loss of function induces multiple splicing changes, including a cryptic exon in the amyotrophic lateral sclerosis and fronto-temporal lobar degeneration risk gene UNC13A , leading to nonsens...
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RT @OscarWilkins16: We're looking for someone with a creative mindset and excellent modern molecular biology skills (DNA manipulation, Illu….
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RT @MasudHusain: Why small mindedness is having big consequences @Brain1878 .I live under its shadow. I suspect most of you do too. It is t….
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RT @RueppLab: Do you love #RNA and #neuroscience? Are you looking for a #postdocposition on #ALS and gene therapy? Join @RueppLab @UKDRI @K….
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This work was led by @SamBryce_Smith and a joint effort with @mariasecrier and many others. Parallel efforts from the Gitler and La Spada labs also identify the link between TDP-43 and 3'UTR changes and out now:.
www.biorxiv.org
Nuclear clearance and cytoplasmic aggregation of the RNA-binding protein TDP-43 are observed in many neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS) and fronto- temporal...
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TDP-43 loss causes mis-splicing in ALS/FTD. We now show it also induces widespread cryptic 3'UTRs. This increases RNA stability, translation and function of ELK1 and other TFs. Also provides novel targets for biomarker and therapeutics development.
www.biorxiv.org
Nuclear depletion and cytoplasmic aggregation of the RNA-binding protein TDP-43 is the hallmark of ALS, occurring in over 97% of cases. A key consequence of TDP-43 nuclear loss is the de-repression...
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RT @isaacs_adrian: Really excited about our latest preprint, where we uncovered a neuroprotective role for neuronal polyunsaturated fatty a….
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See the full thread from brilliant first author @OscarWilkins16. Exceptional collaborators on this, including @ClaireLePichon @ule_lab @MaxZYJChien Jo Wlaschin. @UCLIoN @TheCrick.
New BioRxiv paper on using cryptic splicing to unlock precision gene therapy activation for ALS, FTD & other TDP-opathies! Key contributions @MaxZYJChien Josette Wlaschin +many others from @ClaireLePichon @ule_lab @FrattaLab labs and more. A thread 🧵 1/13
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Want to deliver gene therapies broadly, but activate them only in diseased neurons? .TDP-REG "hacks" TDP cryptic mis-splicing to drive expression only WHEN and WHERE needed! Less toxicity, wider therapeutic window, new options for sporadic ALS therapies.
www.biorxiv.org
A system enabling the expression of therapeutic proteins specifically in diseased cells would be transformative, providing greatly increased safety and the possibility of pre-emptive treatment. Here...
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RT @PataniLab: Our latest @NeuroCellPress reveals widespread mislocalisation of proteins & mRNAs in ALS. This is partly reversed by VCP ATP….
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RT @isaacs_adrian: Check out our new preprint on generation and characterisation of C9orf72 polyGR and polyPR knock-in mice. A huge effort….
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We are recruiting a lab manager! If interested in helping shape a growing lab and directly contribute to molecular and cellular translational research in ALS, in London, please apply below:.
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Well done anna-leigh!! @annaleighbrown2.
Congratulations to PhD student @annaleighbrown2 from @UCL, who is awarded the Jean Corsan Prize for the best scientific paper published by a PhD student! . Read more about our prize winners here 👇
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This is work from brilliant @mattzano and @kriski_ibanez from @arianna_tucci Lab. Made possible thanks to the great resources from @GenomicsEngland , @gnomad_project, Bryan Traynor and Project MinE @_Makeityours.
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Kennedy's disease, caused by a CAG expansion, is considered rare (1:33K males). We found a 1:3K mutation frequency in >110K X chromosomes, predicting a 1:6.8K prevalence. Why this discrepancy? Reduced penetrance or misdiagnosis? .check our paper @Brain1878.
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