The role of TDP-43 propagation in neurodegenerative diseases: integrating insights from clinical and experimental studies
M Jo, S Lee, YM Jeon, S Kim, Y Kwon… - Experimental & molecular …, 2020 - nature.com
Abstract TAR DNA-binding protein 43 (TDP-43) is a highly conserved nuclear RNA/DNA-
binding protein involved in the regulation of RNA processing. The accumulation of TDP-43 …
binding protein involved in the regulation of RNA processing. The accumulation of TDP-43 …
Dysregulated molecular pathways in amyotrophic lateral sclerosis–frontotemporal dementia spectrum disorder
FB Gao, S Almeida, R Lopez‐Gonzalez - The EMBO journal, 2017 - embopress.org
Frontotemporal dementia (FTD), the second most common form of dementia in people under
65 years of age, is characterized by progressive atrophy of the frontal and/or temporal lobes …
65 years of age, is characterized by progressive atrophy of the frontal and/or temporal lobes …
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 …
The C9orf72 repeat expansion disrupts nucleocytoplasmic transport
The hexanucleotide repeat expansion (HRE) GGGGCC (G4C2) in C9orf72 is the most
common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) …
common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) …
Recent updates on the genetics of amyotrophic lateral sclerosis and frontotemporal dementia
L Kirola, A Mukherjee, M Mutsuddi - Molecular Neurobiology, 2022 - Springer
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) primarily affect the
motor and frontotemporal areas of the brain, respectively. These disorders share clinical …
motor and frontotemporal areas of the brain, respectively. These disorders share clinical …
Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis
Heterozygous mutations in the GRN gene lead to progranulin (PGRN) haploinsufficiency
and cause frontotemporal dementia (FTD), a neurodegenerative syndrome of older adults …
and cause frontotemporal dementia (FTD), a neurodegenerative syndrome of older adults …
Loss of TMEM106B ameliorates lysosomal and frontotemporal dementia-related phenotypes in progranulin-deficient mice
ZA Klein, H Takahashi, M Ma, M Stagi, M Zhou… - Neuron, 2017 - cell.com
Summary Progranulin (GRN) and TMEM106B are associated with several common
neurodegenerative disorders including frontotemporal lobar degeneration (FTLD). A …
neurodegenerative disorders including frontotemporal lobar degeneration (FTLD). A …
Amyotrophic lateral sclerosis: a neurodegenerative motor neuron disease with ocular involvement
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that causes
degeneration of the lower and upper motor neurons and is the most prevalent motor neuron …
degeneration of the lower and upper motor neurons and is the most prevalent motor neuron …
Isoform‐specific antibodies reveal distinct subcellular localizations of C 9orf72 in amyotrophic lateral sclerosis
S Xiao, L MacNair, P McGoldrick… - Annals of …, 2015 - Wiley Online Library
Objective A noncoding hexanucleotide repeat expansion in C9orf72 is the most common
cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) …
cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) …
C9orf72 dipeptides disrupt the nucleocytoplasmic transport machinery and cause TDP-43 mislocalisation to the cytoplasm
A repeat expansion in C9orf72 is the major cause of both frontotemporal dementia and
amyotrophic lateral sclerosis, accounting for approximately 1 in 12 cases of either disease …
amyotrophic lateral sclerosis, accounting for approximately 1 in 12 cases of either disease …