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Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities
Huntington disease (HD) is a neurodegenerative disease caused by CAG repeat expansion
in the huntingtin gene (HTT) and involves a complex web of pathogenic mechanisms …
in the huntingtin gene (HTT) and involves a complex web of pathogenic mechanisms …
The proteostasis network and its decline in ageing
Ageing is a major risk factor for the development of many diseases, prominently including
neurodegenerative disorders such as Alzheimer disease and Parkinson disease. A hallmark …
neurodegenerative disorders such as Alzheimer disease and Parkinson disease. A hallmark …
Mis-spliced transcripts generate de novo proteins in TDP-43–related ALS/FTD
Functional loss of TDP-43, an RNA binding protein genetically and pathologically linked to
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), leads to the …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), leads to the …
The nucleolus functions as a phase-separated protein quality control compartment
INTRODUCTION Cells have evolved quality control mechanisms that operate under normal
growth conditions and during stress to maintain protein homeostasis (proteostasis) and …
growth conditions and during stress to maintain protein homeostasis (proteostasis) and …
C9orf72-mediated ALS and FTD: multiple pathways to disease
R Balendra, AM Isaacs - Nature Reviews Neurology, 2018 - nature.com
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …
Animal models of neurodegenerative diseases
Animal models of adult-onset neurodegenerative diseases have enhanced the
understanding of the molecular pathogenesis of Alzheimer's disease, Parkinson's disease …
understanding of the molecular pathogenesis of Alzheimer's disease, Parkinson's disease …
Decoding ALS: from genes to mechanism
Amyotrophic lateral sclerosis (ALS) is a progressive and uniformly fatal neurodegenerative
disease. A plethora of genetic factors have been identified that drive the degeneration of …
disease. A plethora of genetic factors have been identified that drive the degeneration of …
Human ALS/FTD brain organoid slice cultures display distinct early astrocyte and targetable neuronal pathology
Amyotrophic lateral sclerosis overlap** with frontotemporal dementia (ALS/FTD) is a fatal
and currently untreatable disease characterized by rapid cognitive decline and paralysis …
and currently untreatable disease characterized by rapid cognitive decline and paralysis …
TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD
The cytoplasmic mislocalization and aggregation of TAR DNA-binding protein-43 (TDP-43)
is a common histopathological hallmark of the amyotrophic lateral sclerosis and …
is a common histopathological hallmark of the amyotrophic lateral sclerosis and …
C9ORF72: what it is, what it does, and why it matters
J Smeyers, EG Banchi, M Latouche - Frontiers in cellular …, 2021 - frontiersin.org
When the non-coding repeat expansion in the C9ORF72 gene was discovered to be the
most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis …
most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis …