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

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.

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 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...

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 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...

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: 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.

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

www.biorxiv.org/content/10.1101/2024.12....

#neurodegeneration #motorneurondisease #ALS

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

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" .

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 www.biorxiv.org/content/10.1101/2025.02....