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 …

Mechanisms of autophagy–lysosome dysfunction in neurodegenerative diseases

RA Nixon, DC Rubinsztein - Nature Reviews Molecular Cell Biology, 2024 - nature.com
Autophagy is a lysosome-based degradative process used to recycle obsolete cellular
constituents and eliminate damaged organelles and aggregate-prone proteins. Their …

New insights into the genetic etiology of Alzheimer's disease and related dementias

C Bellenguez, F Küçükali, IE Jansen, L Kleineidam… - Nature …, 2022 - nature.com
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …

Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders

J Bryois, D Calini, W Macnair, L Foo, E Urich… - Nature …, 2022 - nature.com
To date, most expression quantitative trait loci (eQTL) studies, which investigate how genetic
variants contribute to gene expression, have been performed in heterogeneous brain …

[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 …

Frontotemporal lobar degeneration

M Grossman, WW Seeley, AL Boxer, AE Hillis… - Nature Reviews …, 2023 - nature.com
Frontotemporal lobar degeneration (FTLD) is one of the most common causes of early-onset
dementia and presents with early social–emotional–behavioural and/or language changes …

Amyloid fibrils in FTLD-TDP are composed of TMEM106B and not TDP-43

YX Jiang, Q Cao, MR Sawaya, R Abskharon, P Ge… - Nature, 2022 - nature.com
Frontotemporal lobar degeneration (FTLD) is the third most common neurodegenerative
condition after Alzheimer's and Parkinson's diseases. FTLD typically presents in 45 to 64 …

Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report

PT Nelson, DW Dickson, JQ Trojanowski, CR Jack… - Brain, 2019 - academic.oup.com
We describe a recently recognized disease entity, limbic-predominant age-related TDP-43
encephalopathy (LATE). LATE neuropathological change (LATE-NC) is defined by a …

Age-dependent formation of TMEM106B amyloid filaments in human brains

M Schweighauser, D Arseni, M Bacioglu, M Huang… - Nature, 2022 - nature.com
Many age-dependent neurodegenerative diseases, such as Alzheimer's and Parkinson's,
are characterized by abundant inclusions of amyloid filaments. Filamentous inclusions of the …

[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 …