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 …

[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 …

[HTML][HTML] 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] 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 …

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 …

[PDF][PDF] 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 …

[PDF][PDF] The post-GWAS era: from association to function

MD Gallagher, AS Chen-Plotkin - The American Journal of Human …, 2018 - cell.com
During the past 12 years, genome-wide association studies (GWASs) have uncovered
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …

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 …

[PDF][PDF] Homotypic fibrillization of TMEM106B across diverse neurodegenerative diseases

A Chang, X Xiang, J Wang, C Lee, T Arakhamia… - Cell, 2022 - cell.com
Misfolding and aggregation of disease-specific proteins, resulting in the formation of
filamentous cellular inclusions, is a hallmark of neurodegenerative disease with …