Devesh C Pant
@deveshp.bsky.social
Dedicated to advancing research in rare human juvenile & adult neuromuscular disorders 🦓
📣New from @deveshp.bsky.social & co!
📄Targeted plasma #proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders
👉https://tinyurl.com/t53jhthu
📄Targeted plasma #proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders
👉https://tinyurl.com/t53jhthu
August 29, 2025 at 2:22 PM
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...
www.science.org
August 1, 2025 at 1:18 AM
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...
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.
www.thelancet.com
May 28, 2025 at 12:09 AM
Antisense oligonucleotide jacifusen for FUS-ALS: open-label case series - The Lancet www.thelancet.com/journals/lan...
Targeted plasma proteomics uncover novel proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders https://www.biorxiv.org/content/10.1101/2025.04.29.651203v1
May 2, 2025 at 7:57 PM
Reposted by Devesh C Pant
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
https://www.biorxiv.org/content/10.1101/2024.12.31.630930v2
#neurodegeneration #motorneurondisease #ALS
March 25, 2025 at 7:01 PM
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
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
April 26, 2025 at 12:29 PM
🐜 KIF5A-linked Dystonia www.prd-journal.com/article/S135... @movedisorder.bsky.social
Reposted by Devesh C Pant
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
February 28, 2025 at 12:45 PM
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
Reposted by Devesh C Pant
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
February 23, 2025 at 6:15 PM
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