Triad of TDP43 control in neurodegeneration: autoregulation, localization and aggregation

P Tziortzouda, L Van Den Bosch, F Hirth - Nature Reviews …, 2021 - nature.com
Cytoplasmic aggregation of TAR DNA-binding protein 43 (TDP43; also known as TARDBP
or TDP-43) is a key pathological feature of several neurodegenerative diseases, including …

Connecting TDP-43 pathology with neuropathy

JR Klim, G Pintacuda, LA Nash, IG San Juan… - Trends in …, 2021 - cell.com
Transactive response DNA-binding protein 43 kDa (TDP-43), a multifunctional nucleic acid-
binding protein, is a primary component of insoluble aggregates associated with several …

Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS

AN Coyne, V Baskerville, BL Zaepfel… - Science translational …, 2021 - science.org
Alterations in the components [nucleoporins (Nups)] and function of the nuclear pore
complex (NPC) have been implicated as contributors to the pathogenesis of genetic forms of …

[HTML][HTML] Huntington's disease mice and human brain tissue exhibit increased G3BP1 granules and TDP43 mislocalization

II Sanchez, TB Nguyen, WE England… - The Journal of …, 2021 - Am Soc Clin Investig
Chronic cellular stress associated with neurodegenerative disease can result in the
persistence of stress granule (SG) structures, membraneless organelles that form in …

[HTML][HTML] New perspectives on cytoskeletal dysregulation and mitochondrial mislocalization in amyotrophic lateral sclerosis

F Theunissen, PK West, S Brennan, B Petrović… - Translational …, 2021 - Springer
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease
characterized by selective, early degeneration of motor neurons in the brain and spinal cord …

[HTML][HTML] HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing

A Bampton, A Gatt, J Humphrey, S Cappelli… - Acta …, 2021 - Springer
Heterogeneous nuclear ribonucleoproteins (HnRNPs) are a group of ubiquitously
expressed RNA-binding proteins implicated in the regulation of all aspects of nucleic acid …

[HTML][HTML] An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients

H Phatnani, J Kwan, D Sareen, JR Broach, Z Simmons… - Iscience, 2021 - cell.com
Neurodegenerative diseases are challenging for systems biology because of the lack of
reliable animal models or patient samples at early disease stages. Induced pluripotent stem …

[HTML][HTML] Novel STMN2 Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype

F Theunissen, RS Anderton, FL Mastaglia… - Frontiers in Aging …, 2021 - frontiersin.org
Objective There is a critical need to establish genetic markers that explain the complex
phenotypes and pathogenicity of ALS. This study identified a polymorphism in the Stathmin …

[HTML][HTML] Human induced pluripotent stem cell-derived TDP-43 mutant neurons exhibit consistent functional phenotypes across multiple gene edited lines despite …

AST Smith, C Chun, J Hesson, J Mathieu… - Frontiers in cell and …, 2021 - frontiersin.org
Gene editing technologies hold great potential to enhance our ability to model inheritable
neurodegenerative diseases. Specifically, engineering multiple amyotrophic lateral sclerosis …

[HTML][HTML] Novel insight into the role of immune dysregulation in amyotrophic lateral sclerosis based on bioinformatic analysis

Y Xie, X Luo, H He, M Tang - Frontiers in Neuroscience, 2021 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by
the progressive degeneration of motor neurons. The causative pathogenic mechanisms in …