A new mouse model reveals dosage-dependent effects of Sptlc1-ALS. Deletion of exon 2 causes early lethality in homozygous mice, while heterozygotes show no ALS-like phenotype. @deveshp.bsky.social www.life-science-alliance.org/content/9/9/...

www.life-science-alliance.org/content/9/9/... @lsajournal.org @alsassociation.bsky.social and LiveLikeLou Foundation for supporting this research.

Beyond neurofilaments: a multidimensional blood signature for #ALS academic.oup.com/braincomms/a... #biomarker @braincomms.bsky.social

Grateful to be involved in advancing our understanding of novel CYP2U1 variants causing rare SPG56 disorders in collaboration with @cincychildrens.bsky.social #CHOA @bmc.springernature.com link.springer.com/article/10.1... #RareDisease

Throwback to the PujolLab @idibell.bsky.social @ciberisciii.bsky.social @rarediseaseday.bsky.social ,where my rare disease research journey began. Proud to have been part of this dedicated team. Still working toward better understanding and treatments. @pranea.bsky.social

Meet 2025 Next Gen. Researcher Janani Parameswaran, PhD. She is studying the role of protein TMEM106B in C9orf72, a genetic form of frontotemporal dementia (FTD). Funded with @AFTDHope and @AANmember. #FTDResearch 🧠 Learn more about Dr. Parameswaran's research: buff.ly/dL1vTM8

Loss & gain of motor protein function cause microtubule bundle damage in 🪰 axons: @currentbiology.bsky.social Biology www.cell.com/current-biol... @poppi62.bsky.social

Thanks to all 🌐 superhost from 🇺🇸, 🇵🇱, 🇩🇪, 🇮🇹, 🇳🇱, 🇪🇸, 🇦🇺, 🇬🇧 #KIF5A #ALS #SPG10

Altered translation elongation contributes to key hallmarks of aging in the killifish brain | Science www.science.org/doi/10.1126/...

Antisense oligonucleotide jacifusen for FUS-ALS: open-label case series - The Lancet www.thelancet.com/journals/lan...

🐜 KIF5A linked axonopathies #SPG10 #ALS

Different mechanisms link gain and loss of kinesin functions to axonal degeneration https://www.biorxiv.org/content/10.1101/2024.12.31.630930v2 #neurodegeneration #motorneurondisease #ALS

🐜 KIF5A-linked Dystonia www.prd-journal.com/article/S135... @movedisorder.bsky.social

This blog commemorates today's #RareDiseaseDay with a selection of articles, collections, clinical study registrations and blog posts chosen by our publishers: http://spklr.io/633282U5e#RareDiseaseDay

Lack of motor defects and ALS-like neuropathology in heterozygous Sptlc1 Exon 2 deletion mice https://www.biorxiv.org/content/10.1101/2025.02.18.638951v1