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We (The Crick UK Dementia Research Institute King's College London LonDownS Consortium Trisomy 21 Research Society Down's Syndrome Association Queen Mary University of London GO-DS21 UCL Queen Square Institute of Neurology) started celebrations early, with a day of fun activities and informative talks for people with Down Syndrome and their families.

Researchers The MNP Lab have developed a new treatment strategy to combat the inherited neuromuscular condition Charcot-Marie-Tooth disease👏 Using cutting-edge imaging techniques, they reveal disruption in an essential process in nerve cells in CMT👉buff.ly/3Jqyh7q

"This breakthrough provides a potential therapeutic approach for CMT, for which there is currently a complete lack of drug treatments." Dr James Sleigh James Sleigh (UCL Queen Square Institute of Neurology) on a new treatment strategy to combat Charcot-Marie-Tooth disease. Read more ⬇️ bit.ly/3JW52uC

Thankful and delighted to share this wholemount lumbrical staining figure!

Impaired #AxonalTransport in DI-CMTC/YARS1 neuropathy is rescued by boosting BDNF in muscle: biorxiv.org/content/10.110… Well done team! Ellie Rhymes Rebecca Simkin Sunaina Surana David Villarroel The MNP Lab & co. UCL Queen Square Institute of Neurology UCL Brain Sciences UK Dementia Research Institute #CMT #MotorNeuron #PeripheralNerve

My first first author paper at The MNP Lab got accepted and published online!! doi.org/10.1016/j.toxi… We showed that SNAP25 modulates the release of pathologylic tau from neuronal axons. We used an amazing tool for studying neuronal pathophysiology: Botulinum neurotoxin A!!

Traffic and Travel – Impaired #nerve signalling as in #CharcotMarieTooth #cmt disease could be rectified by boosting a protein called BDNF. Video & research by James Sleigh et al UCL Queen Square Institute of Neurology in JCI insight. Read more on MRC Laboratory of Medical Sciences (MRC LMS)'s bpod.mrc.ac.uk/archive/2023/4… with John Ankers

Boosting peripheral BDNF rescues impaired in vivo axonal transport in CMT2D mice: buff.ly/3pfFQHz James Sleigh UCL Queen Square Institute of Neurology #Neuroscience

Researchers at UCL Queen Square Institute of Neurology in London, have developed a new treatment approach for Charcot-Marie-Tooth disease (CMT). It indicates that boosting levels of a critical protein called BDNF in CMT muscle can improve some key features of the condition. Read more: bit.ly/45OKJbh

Giampietro Schiavo UCL_QS_CNMD delivers 2023 Jonathan Pembroke Lecture @pnsociety1 conference in Copenhagen. Including great work to understand #CMT2D from James Sleigh lab that will help identify targets for treatment. #PNS2023 #CMTresearch

Excited to share our latest work on bioRxiv! We visualised single molecules of dynein and its cofactors live in the axon. Work by Alex Fellows in collaboration with the Wellcome Sanger Institute (Andrew Basset, Michaela Bruntraeger and Thomas Burgold) biorxiv.org/content/10.110…

Thank you PNS for featuring our work on the front cover! Mouse motor neurons (green), AChRs (red) and blood vessels (magenta) #NeuromuscularJunction #PNS #MotorNeuron

Mitochondria (cyan) staining in the neuromuscular junctions from wholemount dissected lumbricals, variety observed. (magnification 63x) Not that scientifically related, but by choosing this pseudo color, it reminds me of beautiful falling autumn leaves 🍂

Super excited for our next WDSD celebration on March 16th 2024! The event is open to anyone with Down Syndrome and their families/carers - please share with anyone who you think might like to attend! Spaces are limited so get your free ticket now to secure your place!

Boosting BDNF in muscle rescues impaired #AxonalTransport in a mouse model of DI-CMTC peripheral neuropathy: sciencedirect.com/science/articl… Well done team! Ellie Rhymes Rebecca Simkin Ji Qu Sunaina Surana David Villarroel The MNP Lab & co. UCL Queen Square Institute of Neurology UCL Brain Sciences UK Dementia Research Institute #CMT

Tyrosine phosphatases LAR and PTPRδ act as receptors of the nidogen-tetanus toxin complex Giampietro Schiavo and colleagues The MNP Lab embopress.org/doi/full/10.10…

Simply superb study from Sunaina Surana identifying critical co-receptors for tetanus toxin entry into neurons UCL Queen Square Institute of Neurology UCL Brain Sciences UK Dementia Research Institute #NeuromuscularJunction #SignallingEndosome

Such an amazing piece of work to be involved in! 🥳

Very nice work combining strategies for AAV targeting to muscle from Annalucia Darbey of the FrattaLab: biorxiv.org/content/10.110… UCL Queen Square Institute of Neurology UCL Brain Sciences The Crick UCL Div of Surgery UK Dementia Research Institute

🚨POSTDOC ALERT🚨 Andrea Cortese and I are seeking a Research Fellow to support genetic and biomarker studies in neuromuscular diseases: jobs.ac.uk/job/DKF479/res… Two excellent projects and a great Department - closing date for applications 29-Oct-2024 UCL Queen Square Institute of Neurology UCL_QS_CNMD