Pant et al. show that deleting exon 2 of Sptlc1 has dosage-dependent effects in mice: homozygous deletion is lethal, while heterozygous mice remain neurologically normal. @deveshp.bsky.social www.life-science-alliance.org/content/9/9/...
Devesh Pant
@deveshp.bsky.social
Dedicated to advancing research in rare human juvenile & adult neuromuscular disorders 🦓
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.
Deletion of exon 2 in ALS-linked Sptlc1 causes lethality in homozygous mice but not in heterozygotes
Mutations in the human SPTLC1 gene have recently been linked to early-onset amyotrophic lateral sclerosis (ALS), characterized by global atrophy, motor impairments, and symptoms such as tongue fascicu...
life-science-alliance.org
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
Loss and gain of motor protein function cause microtubule bundle damage in Drosophila axons
Liew et al. show that neurodegeneration-linked mutations of different transport motor classes cause damage to axonal microtubule bundles in the form of microtubule-curling. Transport loss of mitochond...
cell.com
Thanks to all 🌐 superhost from 🇺🇸, 🇵🇱, 🇩🇪, 🇮🇹, 🇳🇱, 🇪🇸, 🇦🇺, 🇬🇧 #KIF5A #ALS #SPG10
Human Genetics and Genomics Advances@hggadvances.bsky.social · 11mo ago📣New from @deveshp.bsky.social & co! 📄Targeted plasma #proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders 👉https://tinyurl.com/t53jhthu
Altered translation elongation contributes to key hallmarks of aging in the killifish brain | Science www.science.org/doi/10.1126/...
Altered translation elongation contributes to key hallmarks of aging in the killifish brain
Aging is a major risk factor for neurodegeneration and is characterized by diverse cellular and molecular hallmarks. To understand the origin of these hallmarks, we studied the effects of aging on the...
science.org
Antisense oligonucleotide jacifusen for FUS-ALS: open-label case series - The Lancet www.thelancet.com/journals/lan...
Antisense oligonucleotide jacifusen for FUS-ALS: an investigator-initiated, multicentre, open-label case series
The findings suggest the safety and possible efficacy of jacifusen for treating FUS-ALS. The efficacy of jacifusen is being further evaluated in an ongoing clinical trial.
thelancet.com
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
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
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