@UddLab

The Udd lab is studying molecular pathology of rare neuromuscular disorders @folkhalsanRC @HelsinkiUniMed @helsinkiuni

 Helsinki
folkhalsan.fi/en/knowledge/research/genetics/group-udd/
Joined September 2020
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Our mutation update for the ACTN2 gene onlinelibrary.wiley.com/doi/… @UddLab @mriduljohari @FolkhalsanRC

Mutation update for the ACTN2 gene

ACTN2 encodes alpha-actinin-2, a protein expressed in human cardiac and skeletal muscle. The protein, located in the sarcomere Z-disk, functions as a link between the anti-parallel actin filaments....

onlinelibrary.wiley.com
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BjarneUddLab retweeted
Ali Oghabian@gacatag7 Sep 2022
The annual "Summer"! meeting of @UddLab was held at the beautiful #inkalankartano. Nice scientific discussions, planning and of course sauna by the lake. – at Hämeenlinna, Suomi
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Finally online: doi.org/10.1111/jcmm.17533 Thanks: Matteo Marcello, @vivy_cetra, @UddLab

Use of animal models to understand titin physiology and pathology

In recent years, increasing attention has been paid to titin (TTN) and its mutations. Heterozygous TTN truncating variants (TTNtv) increase the risk of a cardiomyopathy. At the same time, TTNtv and...

onlinelibrary.wiley.com
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Grateful to @SuomenAkatemia for funding our research on #titinopathies for the next four years 🥳🍾 #titin #skeletalmuscle @FolkhalsanRC @HelsinkiUniMed @helsinkiuni
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1st in person group meeting with Bjarne in Helsinki @FolkhalsanRC since the pandemic started. 🥂for @mriduljohari getting the IBM paper published and starting the postdoc wrk. And Ali Oghabian getting 3yrs of support from Magnus Ehrnrooth foundation for studying splicing in NMDs
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Our doctoral researcher @mriduljohari successfully defended his dissertation yesterday. 21 papers and counting, lots of learnings and a lot to look forward to 🍾🥳#musclegenetics @FolkhalsanRC @helsinkiuni
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Prof. Kevin P Campbell from @uiowa served as the honourable opponent. We really thank Kevin for a wonderful discussion 🙌🏻
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Our new article is available now: Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene ng.neurology.org/content/7/6…

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene | Neurology Genetics

Background and ObjectivesTo determine the genetic cause of the disease in the previously reported family with adult-onset autosomal dominant distal myopathy (myopathy, distal, 3; MPD3).MethodsConti...

neurology.org
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Do not miss our latest work @WMS2021. Tomorrow 6.30pm BST: ´Muscle biopsy and RNAseq in the diagnosis of titin related diseases´ #WMS #titin @Solve_RD @FolkhalsanRC @mriduljohari @UddLab @WorldMuscleSoc
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Exciting summer meeting of the Udd lab. Looking forward to an interesting year of scientific discoveries 👩🏼‍🔬🔬👨🏻‍🔬
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Our new article is now available: Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness ng.neurology.org/content/7/5…

Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness |...

Background and ObjectivesTo clinically, genetically, and histopathologically characterize patients presenting with an unusual combination of distal myopathy and facial weakness, without involvement...

neurology.org
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Our new publication is finally online. Many thanks to our collaborators for this effort 🎊
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Prof Coen Ottenheijm is one of our partners in the IDOLS-G project funded by @EJPRareDiseases Listen to this exciting webinar on 14.12
HiLIFE_Helsinki@HiLIFE_helsinki9 Dec 2020
Welcome Coen Ot­ten­heijm to give a #hilifewebinars on topic "Congenital neuromuscular disorder of nemaline myopathy and on an acquired disorder of the diaphragm" 14.12.2020 at 12:00 (UTC+2). Join here: helsinki.zoom.us/j/624229587… #bmhsem #viikkimon @helsinkiuni @amchelsinki
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Prof Marco Linari is one of our partners in the IDOLS-G project funded by @EJPRareDiseases Please join and listen to this exciting seminar. #hilifewebinars
HiLIFE_Helsinki@HiLIFE_helsinki5 Nov 2020
Welcome Marco Linari to give us a #hilifewebinars presentation on topic "Molecular mechanisms of muscle contraction" 9.11.2020 at 12:00 (UTC+2). Join here: helsinki.zoom.us/j/624229587… #bmhsem #viikkimon @amchelsinki @helsinkiuni More info: bit.ly/3kSyVN0
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BjarneUddLab retweeted
Solve-RD@Solve_RD4 Nov 2020
Solve-RD Seeding Grant awarded to fund collaboration project @helsinkiuni. @PerttiPanula will use #zebrafish model to validate novel disease gene discovered by @UddLab @FolkhalsanRC @helsinkiuni in patients with distal #myopathy. 👉 solve-rd.eu/rdmm-europe/fund… @euro_nmd
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Please watch on demand poster talk nr. 1089 on a novel distal myopathy phenotype #ASHG20 If you have any questions do contact us 🙂
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Amazing presentation by @mriduljohari at #ASHG20 #ASHG2020... a novel gene causing distal myopathy! #latenightscience
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Today in #WMS2020 O.01 our PhD student @mriduljohari will be presenting: ‘Mutations in SMPX gene cause the first X-linked distal myopathy’ @amchelsinki @helsinkiuni @FolkhalsanRC @Solve_RD
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