Molecular mechanisms of TDP-43 misfolding and pathology in amyotrophic lateral sclerosis

A Prasad, V Bharathi, V Sivalingam… - Frontiers in molecular …, 2019 - frontiersin.org
TAR DNA binding protein 43 (TDP-43) is a versatile RNA/DNA binding protein involved in
RNA-related metabolism. Hyper-phosphorylated and ubiquitinated TDP-43 deposits act as …

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

R Chia, A Chiò, BJ Traynor - The Lancet Neurology, 2018 - thelancet.com
Background The disease course of amyotrophic lateral sclerosis (ALS) is rapid and,
because its pathophysiology is unclear, few effective treatments are available. Genetic …

ALS genes in the genomic era and their implications for FTD

HP Nguyen, C Van Broeckhoven, J van der Zee - Trends in Genetics, 2018 - cell.com
Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease, characterized
genetically by a disproportionately large contribution of rare genetic variation. Driven by …

The debated toxic role of aggregated TDP-43 in amyotrophic lateral sclerosis: a resolution in sight?

RC Hergesheimer, AA Chami, DR De Assis, P Vourc'h… - Brain, 2019 - academic.oup.com
Transactive response DNA-binding protein-43 (TDP-43) is an RNA/DNA binding protein that
forms phosphorylated and ubiquitinated aggregates in the cytoplasm of motor neurons in …

Pathomechanisms of TDP‐43 in neurodegeneration

J Gao, L Wang, ML Huntley, G Perry… - Journal of …, 2018 - Wiley Online Library
Neurodegeneration, a term that refers to the progressive loss of structure and function of
neurons, is a feature of many neurodegenerative diseases such as amyotrophic lateral …

Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis

AE Volk, JH Weishaupt, PM Andersen… - Medizinische …, 2018 - degruyter.com
Die amyotrophe Lateralsklerose (ALS) ist die häufigste neurodegenerative Erkrankung des
motorischen Nervensystems. Ursächlich ist der Untergang des ersten und/oder zweiten …

Lysosomal dysfunction at the centre of Parkinson's disease and frontotemporal dementia/amyotrophic lateral sclerosis

RL Wallings, SW Humble, ME Ward… - Trends in …, 2019 - cell.com
Parkinson's disease (PD) and frontotemporal dementia/amyotrophic lateral sclerosis
(FTD/ALS) are insidious and incurable neurodegenerative diseases that represent a …

Synaptic dysfunction in ALS and FTD: anatomical and molecular changes provide insights into mechanisms of disease

PA Gelon, PA Dutchak, CF Sephton - Frontiers in Molecular …, 2022 - frontiersin.org
Synaptic loss is a pathological feature of all neurodegenerative diseases including
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). ALS is a disease of …

TDP-43 proteinopathy and mitochondrial abnormalities in neurodegeneration

J Gao, L Wang, T Yan, G Perry, X Wang - Molecular and Cellular …, 2019 - Elsevier
Genetic mutations in TAR DNA-binding protein 43 (TDP-43) cause amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD). Importantly, TDP-43 proteinopathy …

Intrinsically disordered proteins and proteins with intrinsically disordered regions in neurodegenerative diseases

O Coskuner-Weber, O Mirzanli, VN Uversky - Biophysical Reviews, 2022 - Springer
Many different intrinsically disordered proteins and proteins with intrinsically disordered
regions are associated with neurodegenerative diseases. These types of proteins including …