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 …

[HTML][HTML] Lysosomal functions of progranulin and implications for treatment of frontotemporal dementia

MJ Simon, T Logan, SL DeVos, G Di Paolo - Trends in Cell Biology, 2023 - cell.com
Loss-of-function heterozygous mutations in GRN, the gene encoding progranulin (PGRN),
were identified in patients with frontotemporal lobar degeneration (FTLD) almost two …

Amyloid nomenclature 2022: update, novel proteins, and recommendations by the International Society of Amyloidosis (ISA) Nomenclature Committee

JN Buxbaum, A Dispenzieri, DS Eisenberg, M Fändrich… - Amyloid, 2022 - Taylor & Francis
Abstract The Nomenclature Committee of the International Society of Amyloidosis met at the
XVIII International Symposium on Amyloidosis in September and virtually in October 2022 …

[HTML][HTML] TMEM106B is a receptor mediating ACE2-independent SARS-CoV-2 cell entry

J Baggen, M Jacquemyn, L Persoons, E Vanstreels… - Cell, 2023 - cell.com
SARS-CoV-2 is associated with broad tissue tropism, a characteristic often determined by
the availability of entry receptors on host cells. Here, we show that TMEM106B, a lysosomal …

Automated model building and protein identification in cryo-EM maps

K Jamali, L Käll, R Zhang, A Brown, D Kimanius… - Nature, 2024 - nature.com
Interpreting electron cryo-microscopy (cryo-EM) maps with atomic models requires high
levels of expertise and labour-intensive manual intervention in three-dimensional computer …

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 …

Structural polymorphism of amyloid fibrils in ATTR amyloidosis revealed by cryo-electron microscopy

BA Nguyen, V Singh, S Afrin, A Yakubovska… - Nature …, 2024 - nature.com
ATTR amyloidosis is caused by the deposition of transthyretin in the form of amyloid fibrils in
virtually every organ of the body, including the heart. This systemic deposition leads to a …

Seeding the aggregation of TDP-43 requires post-fibrillization proteolytic cleavage

ST Kumar, S Nazarov, S Porta, N Maharjan… - Nature …, 2023 - nature.com
Despite the strong evidence linking the transactive response DNA-binding protein 43 (TDP-
43) aggregation to the pathogenesis of frontotemporal lobar degeneration with TDP-43 …

Advanced techniques for detecting protein misfolding and aggregation in cellular environments

Y Bai, S Zhang, H Dong, Y Liu, C Liu… - Chemical Reviews, 2023 - ACS Publications
Protein misfolding and aggregation, a key contributor to the progression of numerous
neurodegenerative diseases, results in functional deficiencies and the creation of harmful …

Accumulation of TMEM106B C-terminal fragments in neurodegenerative disease and aging

J Perneel, M Neumann, B Heeman, S Cheung… - Acta …, 2023 - Springer
Several studies using cryogenic electron microscopy (cryo-EM) techniques recently reported
the isolation and characterization of novel protein filaments, composed of a C-terminal …