Results 1 to 10 of about 32,684 (231)

The role of TDP-43 mislocalization in amyotrophic lateral sclerosis

Molecular Neurodegeneration, 2020
Since its discovery as a primary component in cytoplasmic aggregates in post-mortem tissue of patients with Amyotrophic Lateral Sclerosis (ALS), TAR DNA Binding Protein 43 kDa (TDP-43) has remained a central focus to understand the disease.
Terry R. Suk, Maxime W. C. Rousseaux
doaj   +3 more sources

Nucleocytoplasmic mRNA redistribution accompanies RNA binding protein mislocalization in ALS motor neurons and is restored by VCP ATPase inhibition

Neuron, 2023
Amyotrophic lateral sclerosis (ALS) is characterized by nucleocytoplasmic mislocalization of the RNA-binding protein (RBP) TDP-43. However, emerging evidence suggests more widespread mRNA and protein mislocalization.
Oliver Ziff, Giulia E Tyzack, Rickie Patani   +2 more
exaly   +2 more sources

Mislocalization of Nucleocytoplasmic Transport Proteins in Human Huntington’s Disease PSC-Derived Striatal Neurons

Frontiers in Cellular Neuroscience, 2021
Huntington’s disease (HD) is an inherited neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene (HTT). Disease progression is characterized by the loss of vulnerable neuronal populations within the striatum.
Jenny Lange, Alison Wood-Kaczmar, Aneesa Ali, Sahar Farag, Rhia Ghosh, Jennifer Parker, Caroline Casey, Yumiko Uno, Akiyoshi Kunugi, Patrizia Ferretti, Ralph Andre, Sarah J. Tabrizi, Sarah J. Tabrizi   +12 more
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Mechanisms Underlying Aquaporin-4 Subcellular Mislocalization in Epilepsy

Frontiers in Cellular Neuroscience, 2022
Epilepsy is a chronic brain disorder characterized by unprovoked seizures. Mechanisms underlying seizure activity have been intensely investigated.
Jenny I. Szu, Devin K. Binder
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Skp, Cullin, F-box (SCF)-Met30 and SCF-Cdc4-Mediated Proteolysis of CENP-A Prevents Mislocalization of CENP-A for Chromosomal Stability in Budding Yeast.

PLoS Genetics, 2020
Restricting the localization of the histone H3 variant CENP-A (Cse4 in yeast, CID in flies) to centromeres is essential for faithful chromosome segregation.
Wei-Chun Au, Tianyi Zhang, Prashant K Mishra, Jessica R Eisenstatt, Robert L Walker, Josefina Ocampo, Anthony Dawson, Jack Warren, Michael Costanzo, Anastasia Baryshnikova, Karin Flick, David J Clark, Paul S Meltzer, Richard E Baker, Chad Myers, Charles Boone, Peter Kaiser, Munira A Basrai   +17 more
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DNAJC9 prevents CENP-A mislocalization and chromosomal instability by maintaining the fidelity of histone supply chains

The EMBO Journal
The centromeric histone H3 variant CENP-A is overexpressed in many cancers. The mislocalization of CENP-A to noncentromeric regions contributes to chromosomal instability (CIN), a hallmark of cancer.
Vinutha Balachandra, Roshan L Shrestha, Colin M Hammond, Shinjen Lin, Ivo A Hendriks, Subhash Chandra Sethi, Lu Chen, Samantha Sevilla, Natasha J Caplen, Raj Chari, Tatiana S Karpova, Katherine McKinnon, Matthew AM Todd, Vishal Koparde, Ken Chih-Chien Cheng, Michael L Nielsen, Anja Groth, Munira A Basrai   +17 more
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Aberrant cytoplasmic intron retention is a blueprint for RNA binding protein mislocalization in VCP-related amyotrophic lateral sclerosis

Brain, 2021
We recently described aberrantly increased cytoplasmic SFPQ intron-retaining transcripts (IRTs) and concurrent SFPQ protein mislocalization as new hallmarks of amyotrophic lateral sclerosis (ALS).
Giulia E Tyzack, Jacob Neeves, Oliver Ziff   +2 more
exaly   +2 more sources

Dbf4-Dependent Kinase (DDK)-Mediated Proteolysis of CENP-A Prevents Mislocalization of CENP-A in Saccharomyces cerevisiae

G3: Genes, Genomes, Genetics, 2020
The evolutionarily conserved centromeric histone H3 variant (Cse4 in budding yeast, CENP-A in humans) is essential for faithful chromosome segregation. Mislocalization of CENP-A to non-centromeric chromatin contributes to chromosomal instability (CIN) in
Jessica R. Eisenstatt, Lars Boeckmann, Wei-Chun Au, Valerie Garcia, Levi Bursch, Josefina Ocampo, Michael Costanzo, Michael Weinreich, Robert A. Sclafani, Anastasia Baryshnikova, Chad L. Myers, Charles Boone, David J. Clark, Richard Baker, Munira A. Basrai   +14 more
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HJURP antagonizes CENP-A mislocalization driven by the H3.3 chaperones HIRA and DAXX. [PDF]

PLoS ONE, 2018
The centromere specific histone H3 variant CENP-A/CENH3 specifies where the kinetochore is formed in most eukaryotes. Despite tight regulation of CENP-A levels in normal cells, overexpression of CENP-A is a feature shared by various types of solid tumors
Jonathan Nye, David Sturgill, Rajbir Athwal, Yamini Dalal   +3 more
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TDP-43 mislocalization drives neurofilament changes in a novel model of TDP-43 proteinopathy

Disease Models & Mechanisms, 2021
Mislocalization of the TAR DNA-binding protein 43 (TDP-43; encoded by TARDBP) from the nucleus to the cytoplasm is a common feature of neurodegenerative conditions such as amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD ...
Rachel Atkinson, Jacqueline Leung, James Bender, Matthew Kirkcaldie, James Vickers, Anna King   +5 more
doaj   +2 more sources