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 …
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 …
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
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 …
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
To date, most expression quantitative trait loci (eQTL) studies, which investigate how genetic
variants contribute to gene expression, have been performed in heterogeneous brain …
variants contribute to gene expression, have been performed in heterogeneous brain …
[HTML][HTML] Age-dependent formation of TMEM106B amyloid filaments in human brains
Many age-dependent neurodegenerative diseases, such as Alzheimer's and Parkinson's,
are characterized by abundant inclusions of amyloid filaments. Filamentous inclusions of the …
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
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 …
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 …
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 …
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …
Molecular pathology of neurodegenerative diseases by cryo-EM of amyloids
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 …
filaments defines most human neurodegenerative diseases. Genetics provides a direct link …
[PDF][PDF] Homotypic fibrillization of TMEM106B across diverse neurodegenerative diseases
Misfolding and aggregation of disease-specific proteins, resulting in the formation of
filamentous cellular inclusions, is a hallmark of neurodegenerative disease with …
filamentous cellular inclusions, is a hallmark of neurodegenerative disease with …