@ResearchMuscle

Neuromuscular diseases, Human genetics, Therapies, caffeine and chocolate, Tweets mine.

 Massachusetts, USA
Joined February 2017
  • Tweets605
  • Following626
  • Followers620
20Media
Excellent work on Split intein-mediated protein trans-splicing to express large dystrophins @nature by Chamberlain and team nature.com/articles/s41586-0…
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Valeria Di Leo@ValDiLeoMito1 Mar 2024
Today is a very exciting day to see this paper finally published in @NatureGenet 💫 Congratulations to Ana Topf and Volker Straub for the hard work and the resilience 👩‍🔬 🔬 👨‍🔬 @jwmdrc @UniofNewcastle @anatopf Enjoy the reading nature.com/articles/s41588-0…
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Happy #RareDiseaseDay ! 🦓 Let’s celebrate the resilience of those thriving with rare diseases. Let’s acknowledge the battles fought for the rights we have today. Let’s unite to empower a vision for improved equity, inclusion, accessibility to diagnosis and treatments worldwide. – at Brookline, MA
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Happy international day of women and girls in science. Celebrating the achievements of incredible women colleagues, collaborators, mentors, and many others who inspire by their strength, resilience, and brilliant minds while breaking stereotypes and barriers every day #IDWGS2024
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Striated skeletal muscle in zebrafish. Credit to Euri S. Kim & @ResearchMuscle. #ZebrafishZunday
Image of zebrafish muscle with fibers in green and cell nuclei in blue.

ALT Image of zebrafish muscle with fibers in green and cell nuclei in blue.

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Great debate- if the muscle biopsy still indicated @TeresinhaEvange Vs Baziel van Engelen. Yes, we need Muscle biopsy to test the impact of new variants, improved diagnostics and learn about disease biology #notaferrari #wms2023
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Thanks @DMM_Journal @Co_Biologists for featuring our image on the September cover page #skeletalmuscle journals.biologists.com/dmm/…
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FocalPlane@focalplane_jcs11 Sep 2023
It’s #EMmonday and we’re looking at skeletal muscle with Euri Kim, Vandana Gupta @ResearchMuscle and colleagues. They identify defects in the glycerolipid pathway in tango2 mutants linked to rhabdomyolysis. 📖@DMM_Journal: journals.biologists.com/dmm/…
TEM images of control and tango2 mutant larval zebrafish, with no significant defects in sarcomere size. Defects were observed in sarcoplasmic reticulum and mitochondria.

ALT TEM images of control and tango2 mutant larval zebrafish, with no significant defects in sarcomere size. Defects were observed in sarcoplasmic reticulum and mitochondria.

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New @AJHGNews paper: High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy. tinyurl.com/4anan6dv

High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy...

XLMTM is a severe congenital disease with no approved therapy. AAV-mediated gene replacement shows promise. We analyzed RNA-sequencing data from 15 XLMTM participants enrolled in ASPIRO (NCT03199469)...

cell.com
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Our new work on Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2 is out journals.biologists.com/dmm/…
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Rhabdomyolysis is a complex disorder where extrinsic factors play a major role in driving the disease onset and muscle breakdown. Our study provides insights in to extrinsic factors that lead to the disease onset and intrinsic processes that play a major role in disease pathology
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Excited to share the new work from our group: Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset doi.org/10.7554/eLife.81966

Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle...

Novel disease pathways underlie disease pathogenesis in Kelch-related nemaline myopathy through proteomic remodeling.

elifesciences.org
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Thanks to all our collaborators for their wonderful contribution and insights on this work @BrighamResearch @BroadProteomics @Gianina_Natoli @Concordia
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New @AJHGNews paper: Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy. tinyurl.com/bdzs5njn
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We have folks from 24 different labs and 10 different institutions for the Boston Area Zebrafish Researchers (BAZaR) meeting on March 18! More details and RSVP here: sites.google.com/bc.edu/baza… Big thank you you to @daniolabs for supporting the meeting! #Zebrafish #BAZaR23
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Exciting news! A new book, 'Muscular Dystrophy Therapeutics' has just been released, providing in-depth information on the latest methods to develop therapies for this debilitating condition. #musculardystrophy #therapeutics @SpringerNature link.springer.com/book/10.10…
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Vandana A Gupta retweeted
henrike heyne@HHeyne18 Jan 2023
Hi all, very glad to announce our paper on “Mono- and biallelic variant effects on disease at biobank scale” is now finally published @nature in a set of 7 papers revealing scientific discoveries with @FinnGen_FI. nature.com/articles/s41586-0… Read on for a twitter summary 1/8
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Congrats to @ResearchMuscle & colleagues for their new @hmg_journal paper: NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy. tinyurl.com/mrkrn6da
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Congratulations to our Postdoc Nishanthi Mathiyalagan @BrighamResearch on her selection to 2023 Young Investigator Draft Class @UpliftingAt with excellent support from @TANGO2Research to develop treatments for rare diseases #YID23
Uplifting Athletes@UpliftingAth10 Jan 2023
𝐍𝐄𝐖𝐒: 10 Emerging Scientists Score Research Grants Totaling $200,000 Elite athletes and scientists will stand shoulder-to-shoulder in the quest for new research to treat #RareDiseases at the Young Investigator Draft. Meet the #YID23 Draft Class: bit.ly/3Qv1r8n
Group graphic shows the 2023 Young Investigator Draft recipients and their headshots and names within the graphic.

ALT Group graphic shows the 2023 Young Investigator Draft recipients and their headshots and names within the graphic.

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