Disrupted mannosidase enzymes in C9orf72 ALS/FTD https://www.biorxiv.org/content/10.64898/2026.10.30.763135v1
November 4, 2026 at 4:16 PM
Disrupted mannosidase enzymes in C9orf72 ALS/FTD https://www.biorxiv.org/content/10.64898/2026.10.30.763135v1
Tau isn't the only protein that misbehaves 🧠
Healthy TDP-43 is nuclear, regulating splicing (as seen here). In ~97% of ALS and ~half of FTD, it leaves the nucleus and aggregates in the cytoplasm.
Cat# ET1703-74
#Neurodegeneration #ALS #NeuroSky
Healthy TDP-43 is nuclear, regulating splicing (as seen here). In ~97% of ALS and ~half of FTD, it leaves the nucleus and aggregates in the cytoplasm.
Cat# ET1703-74
#Neurodegeneration #ALS #NeuroSky
November 6, 2026 at 4:15 PM
Tau isn't the only protein that misbehaves 🧠
Healthy TDP-43 is nuclear, regulating splicing (as seen here). In ~97% of ALS and ~half of FTD, it leaves the nucleus and aggregates in the cytoplasm.
Cat# ET1703-74
#Neurodegeneration #ALS #NeuroSky
Healthy TDP-43 is nuclear, regulating splicing (as seen here). In ~97% of ALS and ~half of FTD, it leaves the nucleus and aggregates in the cytoplasm.
Cat# ET1703-74
#Neurodegeneration #ALS #NeuroSky
Study of 469 neurons reveals recurrent TOP1-mediated genetic damage in ALS, FTD, and AD, with all showing increased somatic mutations—key for understanding neurodegeneration. PMID:42385702, Cell 2026, @Cell https://www.cell.com/cell/fulltext/S0092-8674(26)00700-2 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪
https://www.cell.com/cell/fulltext/S0092-8674(26)00700-2
No description available
www.cell.com
November 8, 2026 at 10:00 PM
Study of 469 neurons reveals recurrent TOP1-mediated genetic damage in ALS, FTD, and AD, with all showing increased somatic mutations—key for understanding neurodegeneration. PMID:42385702, Cell 2026, @Cell https://www.cell.com/cell/fulltext/S0092-8674(26)00700-2 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪
Disrupted mannosidase enzymes in C9orf72 ALS/FTD https://www.biorxiv.org/content/10.64898/2026.10.30.763135v1
November 4, 2026 at 4:16 PM
Disrupted mannosidase enzymes in C9orf72 ALS/FTD https://www.biorxiv.org/content/10.64898/2026.10.30.763135v1
Disrupted mannosidase enzymes in C9orf72 ALS/FTD #NeuroDegeneration 🧪🧠
https://www.biorxiv.org/content/10.64898/2026.10.30.763135v1
https://www.biorxiv.org/content/10.64898/2026.10.30.763135v1
November 4, 2026 at 5:01 PM
Disrupted mannosidase enzymes in C9orf72 ALS/FTD #NeuroDegeneration 🧪🧠
https://www.biorxiv.org/content/10.64898/2026.10.30.763135v1
https://www.biorxiv.org/content/10.64898/2026.10.30.763135v1
Genetic family mapping uncovers hidden links across ALS and FTD
www.news-medical.net/news/2026110...
www.news-medical.net/news/2026110...
Genetic family mapping uncovers hidden links across ALS and FTD
Researchers at the Macquarie University Brain Institute and Clinic have helped accelerate the search for disease-causing genes by building new genetic 'families'.
www.news-medical.net
November 4, 2026 at 11:34 AM
Genetic family mapping uncovers hidden links across ALS and FTD
www.news-medical.net/news/2026110...
www.news-medical.net/news/2026110...
What drives neuronal loss in C9orf72-related #ALS & #FTD?
In this video abstract, Jaskaran Singh explains how PAICS contributes to DNA damage & cerebellar neuron loss, revealing a promising therapeutic target
▶️ Watch: buff.ly/EODhwd6
🔗 Read more: buff.ly/o5LB4Ta
#Neuroscience #RareDisease #SciComm
In this video abstract, Jaskaran Singh explains how PAICS contributes to DNA damage & cerebellar neuron loss, revealing a promising therapeutic target
▶️ Watch: buff.ly/EODhwd6
🔗 Read more: buff.ly/o5LB4Ta
#Neuroscience #RareDisease #SciComm
November 2, 2026 at 6:37 PM
What drives neuronal loss in C9orf72-related #ALS & #FTD?
In this video abstract, Jaskaran Singh explains how PAICS contributes to DNA damage & cerebellar neuron loss, revealing a promising therapeutic target
▶️ Watch: buff.ly/EODhwd6
🔗 Read more: buff.ly/o5LB4Ta
#Neuroscience #RareDisease #SciComm
In this video abstract, Jaskaran Singh explains how PAICS contributes to DNA damage & cerebellar neuron loss, revealing a promising therapeutic target
▶️ Watch: buff.ly/EODhwd6
🔗 Read more: buff.ly/o5LB4Ta
#Neuroscience #RareDisease #SciComm
Donor Aware Reanalysis of Neuronal Nuclei Supports STMN2 Depletion Associated with Nuclear TDP 43 loss in FTD and ALS https://www.biorxiv.org/content/10.64898/2026.10.27.762172v1
November 3, 2026 at 1:15 PM
Donor Aware Reanalysis of Neuronal Nuclei Supports STMN2 Depletion Associated with Nuclear TDP 43 loss in FTD and ALS https://www.biorxiv.org/content/10.64898/2026.10.27.762172v1
Donor Aware Reanalysis of Neuronal Nuclei Supports STMN2 Depletion Associated with Nuclear TDP 43 loss in FTD and ALS https://www.biorxiv.org/content/10.64898/2026.10.27.762172v1
November 3, 2026 at 1:15 PM
Donor Aware Reanalysis of Neuronal Nuclei Supports STMN2 Depletion Associated with Nuclear TDP 43 loss in FTD and ALS https://www.biorxiv.org/content/10.64898/2026.10.27.762172v1
Study of 469 neurons from C9ORF72 ALS, C9ORF72 FTD, and AD reveals increased somatic mutations, linking TOP1-mediated genomic damage across neurodegenerative disorders. PMID:42385702, Cell 2026, @Cell https://www.cell.com/cell/fulltext/S0092-8674(26)00700-2 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪
https://www.cell.com/cell/fulltext/S0092-8674(26)00700-2
No description available
www.cell.com
November 2, 2026 at 11:00 PM
Donor Aware Reanalysis of Neuronal Nuclei Supports STMN2 Depletion Associated with Nuclear TDP 43 loss in FTD and ALS #NeuroDegeneration 🧪🧠
https://www.biorxiv.org/content/10.64898/2026.10.27.762172v1
https://www.biorxiv.org/content/10.64898/2026.10.27.762172v1
November 3, 2026 at 2:04 PM
Donor Aware Reanalysis of Neuronal Nuclei Supports STMN2 Depletion Associated with Nuclear TDP 43 loss in FTD and ALS #NeuroDegeneration 🧪🧠
https://www.biorxiv.org/content/10.64898/2026.10.27.762172v1
https://www.biorxiv.org/content/10.64898/2026.10.27.762172v1
Hidden DNA links enabled 73 new family trees for people with ALS and frontotemporal dementia, potentially helping trace disease-linked genes where no genetic explanation was known.
Hidden ancestral links found in motor neuron disease and dementia could speed up gene discovery
Researchers at the Macquarie University Brain Institute and Clinic have helped accelerate the search for disease-causing genes by building new genetic 'families.' The team uncovered hundreds of previously unrecognized family connections by analyzing the DNA of people with frontotemporal dementia (FTD) and motor neuron disease (MND).
medicalxpress.com
November 3, 2026 at 11:00 PM
Hidden DNA links enabled 73 new family trees for people with ALS and frontotemporal dementia, potentially helping trace disease-linked genes where no genetic explanation was known.
Michael Benatar, MD, PhD, University of Miami and Corey McMillan, University of Pennsylvania are leading a new NIH-funded study, "C9orf72 ALS/FTD Prevent", also known as "C9 Prevent”.
A free webinar will be hosted on Nov 9 at 6pm ET to share info: miami.zoom.us/webinar/regi...
A free webinar will be hosted on Nov 9 at 6pm ET to share info: miami.zoom.us/webinar/regi...
November 3, 2026 at 3:21 PM
Michael Benatar, MD, PhD, University of Miami and Corey McMillan, University of Pennsylvania are leading a new NIH-funded study, "C9orf72 ALS/FTD Prevent", also known as "C9 Prevent”.
A free webinar will be hosted on Nov 9 at 6pm ET to share info: miami.zoom.us/webinar/regi...
A free webinar will be hosted on Nov 9 at 6pm ET to share info: miami.zoom.us/webinar/regi...
The Penn FTD Center is thrilled to announce that we will be hosting our seventh annual virtual familial conference, Uncovering the Genetics of Familial FTD/ALS, on Feb 23, 2027, from 1:00PM-4:00PM EST.
Stay tuned for the registration link, meeting agenda and additional details!
Stay tuned for the registration link, meeting agenda and additional details!
October 29, 2026 at 7:34 PM
The Penn FTD Center is thrilled to announce that we will be hosting our seventh annual virtual familial conference, Uncovering the Genetics of Familial FTD/ALS, on Feb 23, 2027, from 1:00PM-4:00PM EST.
Stay tuned for the registration link, meeting agenda and additional details!
Stay tuned for the registration link, meeting agenda and additional details!
Penn FTD Center's Corey McMillan and University of Miami's Michael Benatar are starting a new NIH-funded study titled "C9orf72 ALS/FTD Prevent".
Want to learn more? Join the free webinar on Nov 9th at 6:00pm EST by clicking the link in our bio.
Want to learn more? Join the free webinar on Nov 9th at 6:00pm EST by clicking the link in our bio.
October 30, 2026 at 2:27 PM
Penn FTD Center's Corey McMillan and University of Miami's Michael Benatar are starting a new NIH-funded study titled "C9orf72 ALS/FTD Prevent".
Want to learn more? Join the free webinar on Nov 9th at 6:00pm EST by clicking the link in our bio.
Want to learn more? Join the free webinar on Nov 9th at 6:00pm EST by clicking the link in our bio.
A study of 469 neurons reveals increased somatic mutations (sSNVs, sIndels) in ALS, FTD, and AD, highlighting common TOP1-mediated genomic damage in neurodegeneration. PMID:42385702, Cell 2026, @Cell https://www.cell.com/cell/fulltext/S0092-8674(26)00700-2 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪
https://www.cell.com/cell/fulltext/S0092-8674(26)00700-2
No description available
www.cell.com
October 29, 2026 at 8:00 AM
they already tested me for C9orf72 variants 10 years ago apparently and i told them i didnt want to know at the time because i was being tested for something else. i dont remember now but whatever
so i have a repeat expansion variant of this gene meaning i inherited an almost guarantee of ALS/FTD
so i have a repeat expansion variant of this gene meaning i inherited an almost guarantee of ALS/FTD
October 29, 2026 at 10:34 PM
they already tested me for C9orf72 variants 10 years ago apparently and i told them i didnt want to know at the time because i was being tested for something else. i dont remember now but whatever
so i have a repeat expansion variant of this gene meaning i inherited an almost guarantee of ALS/FTD
so i have a repeat expansion variant of this gene meaning i inherited an almost guarantee of ALS/FTD
Study reveals increased somatic mutations in 469 neurons across C9ORF72 ALS, FTD, and AD, linking TOP1-mediated genomic damage to neurodegeneration. Insights suggest common pathways driving neuronal death in… PMID:42385702, Cell 2026, @Cell https://www.cell.com/cell/fulltext/S0092-8674(26)00700-2
https://www.cell.com/cell/fulltext/S0092-8674(26)00700-2
No description available
www.cell.com
October 29, 2026 at 6:00 PM
Study reveals increased somatic mutations in 469 neurons across C9ORF72 ALS, FTD, and AD, linking TOP1-mediated genomic damage to neurodegeneration. Insights suggest common pathways driving neuronal death in… PMID:42385702, Cell 2026, @Cell https://www.cell.com/cell/fulltext/S0092-8674(26)00700-2
The authors included RRIDs in their in PLOS Genetics paper! We value the author's support of reproducibility. #OpenScience #RRID #reproducibility
Glial cell toxicity in a Drosophila C9orf72 neurodegeneration model
Author summary The most common genetic cause of both familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is an expanded G4C2 repeat in the first intron of the gene C9orf72. This DNA repeat sequence can encode several different protein repeat sequences as well as a repeat RNA. Each of these are potentially toxic. This manuscript investigates the relative toxicity of each component when expressed in glial cells, using Drosophila as a model system. The toxicity was measured both within the glial cells and in neurons that are nearby.
doi.org
October 30, 2026 at 7:09 AM
The authors included RRIDs in their in PLOS Genetics paper! We value the author's support of reproducibility. #OpenScience #RRID #reproducibility
Special credit goes to our co-first authors: Kevin Muwonge, who produced most of the results, and Luis Fernando Duran Armenta, who was the driving force in helping bring the different parts together and wrapping up the story. 👨🔬👨💻
#biochemistry #biophysics #modeling #FTD #ALS #Alzheimers #Tauopathy
#biochemistry #biophysics #modeling #FTD #ALS #Alzheimers #Tauopathy
October 26, 2026 at 9:16 AM
Special credit goes to our co-first authors: Kevin Muwonge, who produced most of the results, and Luis Fernando Duran Armenta, who was the driving force in helping bring the different parts together and wrapping up the story. 👨🔬👨💻
#biochemistry #biophysics #modeling #FTD #ALS #Alzheimers #Tauopathy
#biochemistry #biophysics #modeling #FTD #ALS #Alzheimers #Tauopathy
A study of 469 neurons reveals that ALS, FTD, and AD share recurrent TOP1-mediated genomic damage, showing increased somatic mutations (sSNVs & sIndels) across disorders. PMID:42385702, Cell 2026, @Cell https://www.cell.com/cell/fulltext/S0092-8674(26)00700-2 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪
https://www.cell.com/cell/fulltext/S0092-8674(26)00700-2
No description available
www.cell.com
October 24, 2026 at 2:00 PM
🧠 Funded 4-year EASTBIO PhD at the University of Aberdeen: help build the first PET tracer for TDP-43, radiolabelling an aptamer that spots pathological aggregates in FTD, ALS, Alzheimer’s & LATE. UK & international applicants. Closes 16 Nov. #PhD
www.dementiaresearcher.nihr.ac.uk/job/phd-apta...
www.dementiaresearcher.nihr.ac.uk/job/phd-apta...
PhD: Aptamer PET Tracer for TDP-43 - Dementia Researcher
Funded 4-year EASTBIO PhD at Aberdeen: radiolabel a TDP-43-selective aptamer to build a first-in-class PET tracer for FTD, ALS, Alzheimer's and LATE.
www.dementiaresearcher.nihr.ac.uk
October 24, 2026 at 2:53 PM
🧠 Funded 4-year EASTBIO PhD at the University of Aberdeen: help build the first PET tracer for TDP-43, radiolabelling an aptamer that spots pathological aggregates in FTD, ALS, Alzheimer’s & LATE. UK & international applicants. Closes 16 Nov. #PhD
www.dementiaresearcher.nihr.ac.uk/job/phd-apta...
www.dementiaresearcher.nihr.ac.uk/job/phd-apta...
The University of Hong Kong seeks a Postdoctoral Fellow to develop nose-to-brain hydrogel and peptide therapies that bypass the blood-brain barrier for ALS, FTD, Alzheimer's and Parkinson's. Closing date: 31st January
www.dementiaresearcher.nihr.ac.uk/job/postdoc-...
www.dementiaresearcher.nihr.ac.uk/job/postdoc-...
October 23, 2026 at 1:04 PM
The University of Hong Kong seeks a Postdoctoral Fellow to develop nose-to-brain hydrogel and peptide therapies that bypass the blood-brain barrier for ALS, FTD, Alzheimer's and Parkinson's. Closing date: 31st January
www.dementiaresearcher.nihr.ac.uk/job/postdoc-...
www.dementiaresearcher.nihr.ac.uk/job/postdoc-...
A study on 469 neurons highlights increased genomic damage via TOP1 in ALS, FTD, and AD, revealing 4.8x sSNVs and 2.7x sIndels, linking neurodegenerative disorders. PMID:42385702, Cell 2026, @Cell https://www.cell.com/cell/fulltext/S0092-8674(26)00700-2 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪
https://www.cell.com/cell/fulltext/S0092-8674(26)00700-2
No description available
www.cell.com
October 20, 2026 at 9:00 PM