Sign in

Devesh Pant

@deveshp.bsky.social
25 followers 56 following 10 posts

Dedicated to advancing research in rare human juvenile & adult neuromuscular disorders 🦓

PostsRepliesMedia
Reposted by Devesh Pant
Life Science Alliance @lsajournal.org · 10/07/2026
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/...
021
Reposted by Devesh Pant
Life Science Alliance @lsajournal.org · 03/07/2026
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/...
022
Devesh Pant @deveshp.bsky.social · 02/07/2026
www.life-science-alliance.org/content/9/9/... @lsajournal.org @alsassociation.bsky.social and LiveLikeLou Foundation for supporting this research.
life-science-alliance.org
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...
030
Devesh Pant @deveshp.bsky.social · 17/06/2026
Beyond neurofilaments: a multidimensional blood signature for #ALS academic.oup.com/braincomms/a... #biomarker @braincomms.bsky.social
000
Devesh Pant @deveshp.bsky.social · 23/04/2026
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
000
Devesh Pant @deveshp.bsky.social · 28/02/2026
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
020
Reposted by Devesh Pant
American Brain Foundation @abfbrain.bsky.social · 24/02/2026
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
Researcher Feature: Frontotemporal Degeneration Research. Meet Janani Parameswaran, PhD an American Brain Foundation 2025 Next Generation Research Grantee investigating Frontotemporal Degeneration. Dr. Parameswaran is studying a protein called TMEM106B, which forms clusters in some cases of ALS and frontotemporal degeneration (FTD). She will investigate how these clusters contribute to brain cell damage and affect gene activity. Her findings could help uncover new treatment targets.
011
Devesh Pant @deveshp.bsky.social · 19/01/2026
Loss & gain of motor protein function cause microtubule bundle damage in 🪰 axons: @currentbiology.bsky.social Biology www.cell.com/current-biol... @poppi62.bsky.social
cell.com
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...
042
Devesh Pant @deveshp.bsky.social · 29/08/2025
Thanks to all 🌐 superhost from 🇺🇸, 🇵🇱, 🇩🇪, 🇮🇹, 🇳🇱, 🇪🇸, 🇦🇺, 🇬🇧 #KIF5A #ALS #SPG10
000
Devesh Pant @deveshp.bsky.social · 01/08/2025
Altered translation elongation contributes to key hallmarks of aging in the killifish brain | Science www.science.org/doi/10.1126/...
science.org
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...
010
Devesh Pant @deveshp.bsky.social · 28/05/2025
Antisense oligonucleotide jacifusen for FUS-ALS: open-label case series - The Lancet www.thelancet.com/journals/lan...
thelancet.com
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.
000
Devesh Pant @deveshp.bsky.social · 02/05/2025
🐜 KIF5A linked axonopathies #SPG10 #ALS
010
Reposted by Devesh Pant
CareALS+ @neurodegeneration.bsky.social · 25/03/2025
Different mechanisms link gain and loss of kinesin functions to axonal degeneration www.biorxiv.org/content/10.1101/202… #neurodegeneration #motorneurondisease #ALS
001
Devesh Pant @deveshp.bsky.social · 26/04/2025
🐜 KIF5A-linked Dystonia www.prd-journal.com/article/S135... @movedisorder.bsky.social
010
Reposted by Devesh Pant
Springer Nature @springernature.com · 28/02/2025
This blog commemorates today's #RareDiseaseDay with a selection of articles, collections, clinical study registrations and blog posts chosen by our publishers: spklr.io/633282U5e
A colorful gradient background featuring shades of blue, green, and pink. At the top left, there is a logo for Rare Disease Day. The text in the center reads "I SUPPORT RARE DISEASE DAY" in bold white letters. Below, the date "28 FEB 2025" is displayed, along with a link to learn more at rare diseasesday.org and the hashtag "#RareDiseaseDay" .
085
Reposted by Devesh Pant
bioRxiv Neuroscience @biorxiv-neursci.bsky.social · 23/02/2025
Lack of motor defects and ALS-like neuropathology in heterozygous Sptlc1 Exon 2 deletion mice www.biorxiv.org/content/10.1101/202…
011