Molecular pathology of neurodegenerative diseases by cryo-EM of amyloids

SHW Scheres, B Ryskeldi-Falcon, M Goedert - Nature, 2023 - nature.com
Abnormal assembly of tau, α-synuclein, TDP-43 and amyloid-β proteins into amyloid
filaments defines most human neurodegenerative diseases. Genetics provides a direct link …

Amyotrophic lateral sclerosis: translating genetic discoveries into therapies

F Akçimen, ER Lopez, JE Landers, A Nath… - Nature Reviews …, 2023 - nature.com
Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …

Structure of pathological TDP-43 filaments from ALS with FTLD

D Arseni, M Hasegawa, AG Murzin, F Kametani, M Arai… - Nature, 2022 - nature.com
The abnormal aggregation of TAR DNA-binding protein 43 kDa (TDP-43) in neurons and
glia is the defining pathological hallmark of the neurodegenerative disease amyotrophic …

TDP-43 triggers mitochondrial DNA release via mPTP to activate cGAS/STING in ALS

CH Yu, S Davidson, CR Harapas, JB Hilton… - Cell, 2020 - cell.com
Cytoplasmic accumulation of TDP-43 is a disease hallmark for many cases of amyotrophic
lateral sclerosis (ALS), associated with a neuroinflammatory cytokine profile related to …

Mitochondria as cellular and organismal signaling hubs

K Shen, CL Pender, R Bar-Ziv, H Zhang… - Annual review of cell …, 2022 - annualreviews.org
Mitochondria are traditionally known as the powerhouse of the cell, but their functions
extend far beyond energy production. They are vital in cellular and organismal pathways …

Amyotrophic lateral sclerosis: a clinical review

P Masrori, P Van Damme - European journal of neurology, 2020 - Wiley Online Library
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting primarily the
motor system, but in which extra‐motor manifestations are increasingly recognized. The loss …

[HTML][HTML] Phase separation and neurodegenerative diseases: a disturbance in the force

A Zbinden, M Pérez-Berlanga, P De Rossi… - Developmental cell, 2020 - cell.com
Protein aggregation is the main hallmark of neurodegenerative diseases. Many proteins
found in pathological inclusions are known to undergo liquid-liquid phase separation, a …

ALS genetics, mechanisms, and therapeutics: where are we now?

R Mejzini, LL Flynn, IL Pitout, S Fletcher… - Frontiers in …, 2019 - frontiersin.org
The scientific landscape surrounding amyotrophic lateral sclerosis (ALS) continues to shift
as the number of genes associated with the disease risk and pathogenesis, and the cellular …

TDP-43 forms amyloid filaments with a distinct fold in type A FTLD-TDP

D Arseni, R Chen, AG Murzin, SY Peak-Chew… - Nature, 2023 - nature.com
The abnormal assembly of TAR DNA-binding protein 43 (TDP-43) in neuronal and glial cells
characterizes nearly all cases of amyotrophic lateral sclerosis (ALS) and around half of …

The role of TDP-43 mislocalization in amyotrophic lateral sclerosis

TR Suk, MWC Rousseaux - Molecular neurodegeneration, 2020 - Springer
Since its discovery as a primary component in cytoplasmic aggregates in post-mortem tissue
of patients with Amyotrophic Lateral Sclerosis (ALS), TAR DNA Binding Protein 43 kDa (TDP …