Very interesting work from Umea University on SOD1 enzymatic activity in CSF. Seems to be consistently lower in people with ALS-causing SOD1 variants than in other people with ALS or controls. CSF is a better measure than the red cells it's usually measured in.
www.sciencedirect.com/science/arti...
www.sciencedirect.com/science/arti...
Specific analysis of SOD1 enzymatic activity in CSF from ALS patients with and without SOD1 mutations
Mutations in superoxide dismutase-1 (SOD1) are a cause of hereditary amyotrophic lateral sclerosis (ALS) through a gain-of-function mechanism involvin…
www.sciencedirect.com
November 20, 2024 at 10:59 PM
Very interesting work from Umea University on SOD1 enzymatic activity in CSF. Seems to be consistently lower in people with ALS-causing SOD1 variants than in other people with ALS or controls. CSF is a better measure than the red cells it's usually measured in.
www.sciencedirect.com/science/arti...
www.sciencedirect.com/science/arti...
💯 Medical research has reached translational critical mass for so many diseases heretofore considered incurable: Hepatitis C. Myeloma. Cystic fibrosis. Obesity. TTR amyloidosis. Familial (SOD1) ALS. The list goes on... so proud to work in the pharmaceutical field at this moment!
We are on the brink of utterly crushing obesity, diabetes, and a large chunk of cancers.
It's gonna be the biggest public health victory since penicillin.
It's gonna be the biggest public health victory since penicillin.
November 2, 2025 at 4:54 PM
💯 Medical research has reached translational critical mass for so many diseases heretofore considered incurable: Hepatitis C. Myeloma. Cystic fibrosis. Obesity. TTR amyloidosis. Familial (SOD1) ALS. The list goes on... so proud to work in the pharmaceutical field at this moment!
An emergent disease-associated motor neuron state precedes cell death in ALS: Cell www.cell.com/cell/fulltex... 🧪
An emergent disease-associated motor neuron state precedes cell death in ALS
Longitudinal multi-omics in SOD1-ALS mice identifies a disease-associated motor neuron
(DM) state transition driven by transcription factor networks. Features of this state
are conserved in human ALS ...
www.cell.com
August 7, 2026 at 8:21 PM
An emergent disease-associated motor neuron state precedes cell death in ALS: Cell www.cell.com/cell/fulltex... 🧪
Really pleased for David and Chloe to see this published. Was a great collaboration
#ALS #MND #SOD1 #metabolicdysfunction
@uclqsion.bsky.social
#ALS #MND #SOD1 #metabolicdysfunction
@uclqsion.bsky.social
Thompson et al. report the generation and characterization of novel gene-edited mice expressing the human superoxide dismutase 1 (SOD1) gene and carrying the pathogenic SOD1A5V mutation associated with amyotrophic lateral sclerosis.
Read it at 👉https://buff.ly/J8mz8dt
#neuroscience #ALS
Read it at 👉https://buff.ly/J8mz8dt
#neuroscience #ALS
September 28, 2026 at 12:20 AM
Really pleased for David and Chloe to see this published. Was a great collaboration
#ALS #MND #SOD1 #metabolicdysfunction
@uclqsion.bsky.social
#ALS #MND #SOD1 #metabolicdysfunction
@uclqsion.bsky.social
Yanzhe Zheng et al. reveal that during starvation, SOD1, linked to #ALS, is transported into #lysosomes through #autophagy and the receptor protein TP53INP1. Within lysosomes, SOD1 regulates ROS levels and safeguards lysosomal activity and integrity. rupress.org/jcb/article/...
August 7, 2025 at 5:00 PM
Yanzhe Zheng et al. reveal that during starvation, SOD1, linked to #ALS, is transported into #lysosomes through #autophagy and the receptor protein TP53INP1. Within lysosomes, SOD1 regulates ROS levels and safeguards lysosomal activity and integrity. rupress.org/jcb/article/...
Mutations in SOD1 induce ALS-related phenotypes in 3D iPSC-derived motor neuron (MN) spheroids https://www.biorxiv.org/content/10.1101/2025.01.28.635126v1
January 31, 2025 at 4:15 PM
Mutations in SOD1 induce ALS-related phenotypes in 3D iPSC-derived motor neuron (MN) spheroids https://www.biorxiv.org/content/10.1101/2025.01.28.635126v1
Biogen's ALS gene therapy received accelerated FDA approval in '23 4 rare form of ALS in adults w/mutations in SOD1 gene. Follow up from Ph 3 trial published in 12/22 JAMA Neurology said drug not only delays disease progression & helps patients regain lost function medicine.washu.edu/news/new-als...
December 29, 2025 at 5:34 PM
Biogen's ALS gene therapy received accelerated FDA approval in '23 4 rare form of ALS in adults w/mutations in SOD1 gene. Follow up from Ph 3 trial published in 12/22 JAMA Neurology said drug not only delays disease progression & helps patients regain lost function medicine.washu.edu/news/new-als...
A study reveals >1,000 molecular changes in SOD1-G93A mouse motor neurons, leading to a new "disease-associated motor neuron" state, key to ALS progression. PMID:42335888, Cell 2026, @Cell https://www.cell.com/cell/fulltext/S0092-8674(26)00647-1 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪
https://www.cell.com/cell/fulltext/S0092-8674(26)00647-1
No description available
www.cell.com
October 1, 2026 at 9:00 AM
SOD1 is delivered to lysosomes via autophagy to maintain lysosomal function and integrity url: rupress.org/jcb/article-...
SOD1 is delivered to lysosomes via autophagy to maintain lysosomal function and integrity
Zheng et al. reveal that during starvation, SOD1, linked to ALS, is transported into lysosomes through autophagy and the receptor protein TP53INP1. Within
rupress.org
August 7, 2025 at 3:15 PM
SOD1 is delivered to lysosomes via autophagy to maintain lysosomal function and integrity url: rupress.org/jcb/article-...
ALS治療薬の承認了承 特定の遺伝子変異が対象（無料記事）
www.nikkei.com/article/DGXZ...
厚生労働省の専門部会が米製薬企業バイオジェンが開発した難病「ALS（筋萎縮性側索硬化症）」治療薬「トフェルセン」について、製造販売を承認することを了承しました。
SOD1と呼ばれる遺伝子に変異がある患者が対象で、全体の約2%が該当します。
#ニュース
www.nikkei.com/article/DGXZ...
厚生労働省の専門部会が米製薬企業バイオジェンが開発した難病「ALS（筋萎縮性側索硬化症）」治療薬「トフェルセン」について、製造販売を承認することを了承しました。
SOD1と呼ばれる遺伝子に変異がある患者が対象で、全体の約2%が該当します。
#ニュース
ALS治療薬の承認了承 特定の遺伝子変異が対象 - 日本経済新聞
厚生労働省の専門部会は2日、米製薬企業バイオジェンが開発した難病「ALS（筋萎縮性側索硬化症）」治療薬「トフェルセン」について、製造販売を承認することを了承した。SOD1と呼ばれる遺伝子に変異がある患者が対象で、全体の約2%が該当する。ALSは神経に障害が起き、筋肉がやせて徐々に体が動かせなくなる病気。国内の推定患者数は1万人以上とされる。原因は解明されておらず、根本治療法はない。トフェル
www.nikkei.com
December 3, 2024 at 1:00 AM
ALS治療薬の承認了承 特定の遺伝子変異が対象（無料記事）
www.nikkei.com/article/DGXZ...
厚生労働省の専門部会が米製薬企業バイオジェンが開発した難病「ALS（筋萎縮性側索硬化症）」治療薬「トフェルセン」について、製造販売を承認することを了承しました。
SOD1と呼ばれる遺伝子に変異がある患者が対象で、全体の約2%が該当します。
#ニュース
www.nikkei.com/article/DGXZ...
厚生労働省の専門部会が米製薬企業バイオジェンが開発した難病「ALS（筋萎縮性側索硬化症）」治療薬「トフェルセン」について、製造販売を承認することを了承しました。
SOD1と呼ばれる遺伝子に変異がある患者が対象で、全体の約2%が該当します。
#ニュース
Hi world! If you care about genetic als or FTD let’s connect! #als #ftd #c9orf72 #grn #sod1 #mapt #tardpb #fus
October 1, 2023 at 2:45 AM
Hi world! If you care about genetic als or FTD let’s connect! #als #ftd #c9orf72 #grn #sod1 #mapt #tardpb #fus
The accessory makes the drug: ASO-delivered siRNA enters the human CNS for ALS
The accessory makes the drug: ASO-delivered siRNA enters the human CNS for ALS
In a recent article in Nature Medicine, Chen et al. describe a first-in-human study using an ASO tag to deliver a SOD1 siRNA to the central nervous system (CNS), potentially achieving faster, more extensive, and better-tolerated SOD1-lowering in ALS patients.1
dlvr.it
October 2, 2026 at 11:45 AM
The accessory makes the drug: ASO-delivered siRNA enters the human CNS for ALS
Quietly impressed by early ALS therapy findings. In a small 6-patient trial for SOD1-related ALS, a gene-silencing drug showed NO serious adverse events while reducing disease markers. This kind of safety in critical research is hugely promising.
China-Developed ALS Therapy Shows Early Trial Promise
Chinese researchers have reported encouraging early results for a domestically developed experimental gene-silencing therapy, RAG-17, targeting a genetic form of amyotrophic lateral sclerosis (ALS). I
vertexaisearch.cloud.google.com
July 25, 2026 at 8:03 PM
Quietly impressed by early ALS therapy findings. In a small 6-patient trial for SOD1-related ALS, a gene-silencing drug showed NO serious adverse events while reducing disease markers. This kind of safety in critical research is hugely promising.
An emergent disease-associated motor neuron state precedes cell death in ALS www.cell.com/cell/fulltex...
An emergent disease-associated motor neuron state precedes cell death in ALS
Longitudinal multi-omics in SOD1-ALS mice identifies a disease-associated motor neuron
(DM) state transition driven by transcription factor networks. Features of this state
are conserved in human ALS ...
www.cell.com
June 29, 2026 at 6:29 PM
An emergent disease-associated motor neuron state precedes cell death in ALS www.cell.com/cell/fulltex...
About 2% of people with #ALS have an SOD1 mutation.
Tofersen, an antisense oligonucleotide, improves outcomes in people w/ this mutation, including ⬇️disease progression & ⬆️survival. Some even had ⬆️strength.
A big step forward in treating this awful disease.
jamanetwork.com/journals/jam... #medsky
Tofersen, an antisense oligonucleotide, improves outcomes in people w/ this mutation, including ⬇️disease progression & ⬆️survival. Some even had ⬆️strength.
A big step forward in treating this awful disease.
jamanetwork.com/journals/jam... #medsky
December 28, 2025 at 4:15 PM
About 2% of people with #ALS have an SOD1 mutation.
Tofersen, an antisense oligonucleotide, improves outcomes in people w/ this mutation, including ⬇️disease progression & ⬆️survival. Some even had ⬆️strength.
A big step forward in treating this awful disease.
jamanetwork.com/journals/jam... #medsky
Tofersen, an antisense oligonucleotide, improves outcomes in people w/ this mutation, including ⬇️disease progression & ⬆️survival. Some even had ⬆️strength.
A big step forward in treating this awful disease.
jamanetwork.com/journals/jam... #medsky
Recent findings suggest that #ALS may be a treatable disease.
Early initiation of tofersen (Qalsody) was associated with a numerically slower decline in people with SOD1 amyotrophic lateral sclerosis (ALS) compared with delayed treatment, according to data.
www.medpagetoday.com/neurology/ge...
Early initiation of tofersen (Qalsody) was associated with a numerically slower decline in people with SOD1 amyotrophic lateral sclerosis (ALS) compared with delayed treatment, according to data.
www.medpagetoday.com/neurology/ge...
Long-Term Tofersen Use May Slow ALS Progression, 3-Year Data Suggest
Some SOD1-ALS patients showed trends toward improvements
www.medpagetoday.com
December 29, 2025 at 6:33 PM
Recent findings suggest that #ALS may be a treatable disease.
Early initiation of tofersen (Qalsody) was associated with a numerically slower decline in people with SOD1 amyotrophic lateral sclerosis (ALS) compared with delayed treatment, according to data.
www.medpagetoday.com/neurology/ge...
Early initiation of tofersen (Qalsody) was associated with a numerically slower decline in people with SOD1 amyotrophic lateral sclerosis (ALS) compared with delayed treatment, according to data.
www.medpagetoday.com/neurology/ge...
The Impact of Methylglyoxal and SOD1 Mutation on TDP-43 Interaction in ALS Proteinopathy https://www.biorxiv.org/content/10.1101/2025.09.25.678586v1
September 27, 2025 at 3:30 AM
The Impact of Methylglyoxal and SOD1 Mutation on TDP-43 Interaction in ALS Proteinopathy https://www.biorxiv.org/content/10.1101/2025.09.25.678586v1
米バイオジェンのALS治療薬、国内で承認 遺伝子に作用 - 日本経済新聞 www.nikkei.com/article/DGXZ...
米バイオジェンのALS治療薬、国内で承認 遺伝子に作用 - 日本経済新聞
米バイオジェンは27日、ALS（筋萎縮性側索硬化症）の治療薬「クアルソディ（一般名トフェルセン）」について、厚生労働省から製造販売の承認を取得したと発表した。疾患の原因となる遺伝子に働きかける初のALS治療薬となる。ALSの発症に関わる「SOD1」というたんぱく質を作る遺伝子に変異があると、異常なたんぱく質が蓄積して神経細胞が壊れ、筋力の低下な
www.nikkei.com
December 27, 2024 at 8:38 AM
米バイオジェンのALS治療薬、国内で承認 遺伝子に作用 - 日本経済新聞 www.nikkei.com/article/DGXZ...
Mutant SOD1 expressed by oligodendrocytes aggregates in myelinic nanochannels and accelerates disease progression in familial ALS mice https://www.biorxiv.org/content/10.64898/2026.06.09.731100v1
June 12, 2026 at 12:16 AM
Mutant SOD1 expressed by oligodendrocytes aggregates in myelinic nanochannels and accelerates disease progression in familial ALS mice https://www.biorxiv.org/content/10.64898/2026.06.09.731100v1
米バイオジェンのALS治療薬、国内で承認（無料記事）
www.nikkei.com/article/DGXZQO...
治療薬「クアルソディ（一般名トフェルセン）」について、厚生労働省から製造販売の承認を取得したと発表しました。
疾患の原因となる遺伝子に働きかける初のALS治療薬となります。
#ニュース
www.nikkei.com/article/DGXZQO...
治療薬「クアルソディ（一般名トフェルセン）」について、厚生労働省から製造販売の承認を取得したと発表しました。
疾患の原因となる遺伝子に働きかける初のALS治療薬となります。
#ニュース
米バイオジェンのALS治療薬、国内で承認 遺伝子に作用 - 日本経済新聞
米バイオジェンは27日、ALS（筋萎縮性側索硬化症）の治療薬「クアルソディ（一般名トフェルセン）」について、厚生労働省から製造販売の承認を取得したと発表した。疾患の原因となる遺伝子に働きかける初のALS治療薬となる。ALSの発症に関わる「SOD1」というたんぱく質を作る遺伝子に変異があると、異常なたんぱく質が蓄積して神経細胞が壊れ、筋力の低下な
www.nikkei.com
December 27, 2024 at 1:00 PM
米バイオジェンのALS治療薬、国内で承認（無料記事）
www.nikkei.com/article/DGXZQO...
治療薬「クアルソディ（一般名トフェルセン）」について、厚生労働省から製造販売の承認を取得したと発表しました。
疾患の原因となる遺伝子に働きかける初のALS治療薬となります。
#ニュース
www.nikkei.com/article/DGXZQO...
治療薬「クアルソディ（一般名トフェルセン）」について、厚生労働省から製造販売の承認を取得したと発表しました。
疾患の原因となる遺伝子に働きかける初のALS治療薬となります。
#ニュース
Toxic Protein May Uniquely Affect Brain, Spine, and Muscles in ALS - neurosciencenews.com/sod1-als-gen... via @neurosciencenew
Toxic Protein May Uniquely Affect Brain, Spine, and Muscles in ALS - Neuroscience News
A recent study reveals that the toxic trimer form of the protein SOD1 affects the brain, spinal cord, and muscle tissues differently in ALS, shedding light on its complex progression.
neurosciencenews.com
October 15, 2024 at 9:06 PM
Toxic Protein May Uniquely Affect Brain, Spine, and Muscles in ALS - neurosciencenews.com/sod1-als-gen... via @neurosciencenew
Only 7 patients but encouraging finding
Currently under review for approval by TGA in Australia
Tofersen treatment leads to sustained stabilization of disease in SOD1 ALS in a “real‐world” setting
onlinelibrary.wiley.com/doi/10.1002/...
Currently under review for approval by TGA in Australia
Tofersen treatment leads to sustained stabilization of disease in SOD1 ALS in a “real‐world” setting
onlinelibrary.wiley.com/doi/10.1002/...
Tofersen treatment leads to sustained stabilization of disease in SOD1 ALS in a “real‐world” setting
Objective Patients with amyotrophic lateral sclerosis (ALS) caused by superoxide dismutase 1 (SOD1) gene mutations (SOD1 ALS) treated with tofersen have shown slowing of disease progression, and dis...
onlinelibrary.wiley.com
February 5, 2025 at 10:35 PM
Only 7 patients but encouraging finding
Currently under review for approval by TGA in Australia
Tofersen treatment leads to sustained stabilization of disease in SOD1 ALS in a “real‐world” setting
onlinelibrary.wiley.com/doi/10.1002/...
Currently under review for approval by TGA in Australia
Tofersen treatment leads to sustained stabilization of disease in SOD1 ALS in a “real‐world” setting
onlinelibrary.wiley.com/doi/10.1002/...
Computer-based study: Fisetin binds Superoxide Dismutase 1 (#SOD1) E100K mutant, stabilizes structure, reduces β-sheets, changes Free Energy Landscape (FEL) → lowers aggregation risk in amyotrophic lateral sclerosis. #ALS #NaturalPolyphenols www.frontiersin.org/journals/che...
Frontiers | Inhibitory effect of Fisetin against the aggregation process of SOD1 E100K mutant: computer-based drug design as a potential therapeutic for ALS disease
Protein misfolding and aggregation in superoxide dismutase 1 (SOD1) are linked to the neurodegenerative disease amyotrophic lateral sclerosis (ALS). SOD1 mut...
www.frontiersin.org
August 12, 2025 at 5:27 AM
Computer-based study: Fisetin binds Superoxide Dismutase 1 (#SOD1) E100K mutant, stabilizes structure, reduces β-sheets, changes Free Energy Landscape (FEL) → lowers aggregation risk in amyotrophic lateral sclerosis. #ALS #NaturalPolyphenols www.frontiersin.org/journals/che...