Astrocyte dysfunction and neuronal network hyperactivity in a CRISPR engineered pluripotent stem cell model of frontotemporal dementia
Frontotemporal dementia (FTD) is the second most prevalent type of early-onset dementia
and up to 40% of cases are familial forms. One of the genes mutated in patients is CHMP2B …
and up to 40% of cases are familial forms. One of the genes mutated in patients is CHMP2B …
Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations
SE Davis, AK Cook, JA Hall, Y Voskobiynyk… - Acta neuropathologica …, 2023 - Springer
Loss of function progranulin (GRN) mutations are a major autosomal dominant cause of
frontotemporal dementia (FTD). Patients with FTD due to GRN mutations (FTD-GRN) …
frontotemporal dementia (FTD). Patients with FTD due to GRN mutations (FTD-GRN) …
[HTML][HTML] Granulins rescue inflammation, lysosome dysfunction, and neuropathology in a mouse model of progranulin deficiency
J Root, A Mendsaikhan, S Nandy, G Taylor, M Wang… - bioRxiv, 2023 - ncbi.nlm.nih.gov
Progranulin (PGRN) deficiency is linked to neurodegenerative diseases including
frontotemporal dementia, Alzheimer's disease, Parkinson's disease, and neuronal ceroid …
frontotemporal dementia, Alzheimer's disease, Parkinson's disease, and neuronal ceroid …
Pathophysiological underpinnings of extra-motor neurodegeneration in amyotrophic lateral sclerosis: new insights from biomarker studies
D Reyes-Leiva, O Dols-Icardo, S Sirisi… - Frontiers in …, 2022 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) lie at
opposing ends of a clinical, genetic, and neuropathological continuum. In the last decade, it …
opposing ends of a clinical, genetic, and neuropathological continuum. In the last decade, it …
Biochemical Pathways of Cellular Mechanosensing/Mechanotransduction and Their Role in Neurodegenerative Diseases Pathogenesis
In this review, we shed light on recent advances regarding the characterization of
biochemical pathways of cellular mechanosensing and mechanotransduction with particular …
biochemical pathways of cellular mechanosensing and mechanotransduction with particular …
Loss of TBK1 activity leads to TDP-43 proteinopathy through lysosomal dysfunction in human motor neurons
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by
motor neuron loss accompanied by cytoplasmic localization of TDP-43 proteins and their …
motor neuron loss accompanied by cytoplasmic localization of TDP-43 proteins and their …
FTD/ALS type 7-associated Thr104Asn mutation of CHMP2B blunts neuronal process elongation, and is recovered by knockdown of arf4, the golgi stress regulator
R Shirai, M Cho, M Isogai, S Fukatsu, M Okabe… - Neurology …, 2023 - mdpi.com
Frontotemporal dementia and/or amyotrophic lateral sclerosis type 7 (FTD/ALS7) is an
autosomal dominant neurodegenerative disorder characterized by the onset of FTD and/or …
autosomal dominant neurodegenerative disorder characterized by the onset of FTD and/or …
An AluYb8 retrotransposon characterises a risk haplotype of TMEM106B associated in neurodegeneration
Genome-wide association studies identified a role for TMEM106B in various
neurodegenerative diseases. Based on long-read whole-genome sequencing data of 256 …
neurodegenerative diseases. Based on long-read whole-genome sequencing data of 256 …
Brain high-throughput multi-omics data reveal molecular heterogeneity in Alzheimer's disease
Unbiased data-driven omic approaches are revealing the molecular heterogeneity of
Alzheimer disease. Here, we used machine learning approaches to integrate high …
Alzheimer disease. Here, we used machine learning approaches to integrate high …
Optineurin deficiency and insufficiency lead to higher microglial TDP-43 protein levels
N Prtenjaca, M Rob, MS Alam, A Markovinovic… - International journal of …, 2022 - mdpi.com
Mutations in optineurin, a ubiquitin-binding adaptor protein, cause amyotrophic lateral
sclerosis (ALS), a fatal neurodegenerative disease of motor neurons linked to chronic …
sclerosis (ALS), a fatal neurodegenerative disease of motor neurons linked to chronic …