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Tom Gillingwater

@tomgillingwater.bsky.social

Professor of Anatomy at the University of Edinburgh. FRSE, FRSB, HonFAS. Mood generally influenced by family, anatomy, science (MND/SMA/ALS/NMJ), music, whisky and NFFC. Owned by a Lakeland Terrier. My opinions etc! 📍Edinburgh/East Lothian 🏴󠁧󠁢󠁳󠁣󠁴󠁿

724 Posts714 Follower603 Folgt
Tom Gillingwater@tomgillingwater.bsky.social · 3d ago

Another exciting (albeit preliminary) development in the world of MND/ALS therapeutics: N-of-1 investigational study of a novel antisense oligonucleotide drug in CHCHD10-related ALS shows early signs of efficacy: Med www.cell.com/med/fulltext...

N-of-1 investigational study of a novel antisense oligonucleotide drug in CHCHD10-related ALS shows early signs of efficacy

Cousin et al. report an individualized antisense oligonucleotide for CHCHD10-related ALS. In one participant, six intrathecal doses were well tolerated, plasma neurofilament light decreased to the ref...

cell.com

Jo Wolff@jowolff.bsky.social · last wk.

The fallacy that University leaders pushing AI are falling into is thinking that the point of undergraduate research is to find things out. It isn't. What students find out is typically already generally known. The point of undergraduate research is to learn how to find things out.

Lauren Fish, PhD@laurenfish.bsky.social · 2mo ago

So excited to have contributed to this work- we had lots of discussions about sodium channels and NMJ excitability during the second half of my PhD, and I’m glad that we have a community of excellent folks deepening our understanding of this part of neuromuscular synaptic signaling.

Tom Gillingwater@tomgillingwater.bsky.social · 3mo ago

Delighted to see this paper finally published. New insights into the impact of aging on the human NMJ (hint: it’s NOT denervation!): JCI - Neuromuscular junction failure in sarcopenia is linked to NaV1.4 loss and reversed by ClC-1 inhibition www.jci.org/articles/vie...

Alan Beattie@alanbeattie.bsky.social · 2mo ago

Your reminder that the only half-time show any game needs is a half-arsed penalty shootout with kids from a local primary while a groundsman pokes morosely at the pitch with a garden fork. Also the half-time draw in which someone wins max two hundred quid.

Trends in Molecular Medicine@cp-trendsmolecmed.bsky.social · 2mo ago

ONLINE NOW: A nucleolar view of neuromuscular disease

A nucleolar view of neuromuscular disease

The nucleolus is a master regulator of ribosome biogenesis and cellular homeostasis, as well as an increasingly key determinant of neuromuscular diseases. Across these conditions, diverse genetic and molecular lesions converge on alterations in nucleolar organization and function. These changes impact ribosomal RNA synthesis and reshape translational output, linking nuclear events to cytoplasmic protein homeostasis in disease-relevant contexts. In this review, we propose a comprehensive framework in which the nucleolus integrates RNA dysfunction, genome organization, and translational control across neuromuscular disorders. This perspective provides a conceptual basis for interpreting disease heterogeneity and highlights nucleolar pathways as potential, underexploited targets for therapeutic intervention.

dlvr.it

My Name'5 Doddie Foundation@mndoddie5.bsky.social · 3mo ago

To mark this year’s Global MND Awareness Day we’re proud to share Ben Lighting’s story - a powerful and honest account of living with motor neuron disease, and focusing on what matters most. Earlier this week Ben went along to meet Lewis Moody on Day 6 of Lewis' epic 500 mile cycle challenge 🚲