[HTML][HTML] 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 …

The complexity of Alzheimer's disease: an evolving puzzle

C Ferrari, S Sorbi - Physiological reviews, 2021 - journals.physiology.org
The history of Alzheimer's disease (AD) started in 1907, but we needed to wait until the end
of the century to identify the components of pathological hallmarks and genetic subtypes and …

[HTML][HTML] Gene therapy for ALS: A review

DA Amado, BL Davidson - Molecular Therapy, 2021 - cell.com
Amyotrophic lateral sclerosis (ALS) has historically posed unique challenges for gene-
therapy-based approaches, due to a paucity of therapeutic targets as well as the difficulty of …

[HTML][HTML] High-throughput sequencing technologies

JA Reuter, DV Spacek, MP Snyder - Molecular cell, 2015 - cell.com
The human genome sequence has profoundly altered our understanding of biology, human
diversity, and disease. The path from the first draft sequence to our nascent era of personal …

[HTML][HTML] TDP-43 pathology in Alzheimer's disease

A Meneses, S Koga, J O'Leary, DW Dickson… - Molecular …, 2021 - Springer
Transactive response DNA binding protein of 43 kDa (TDP-43) is an intranuclear protein
encoded by the TARDBP gene that is involved in RNA splicing, trafficking, stabilization, and …

A single N‐terminal phosphomimic disrupts TDP‐43 polymerization, phase separation, and RNA splicing

A Wang, AE Conicella, HB Schmidt, EW Martin… - The EMBO …, 2018 - embopress.org
TDP‐43 is an RNA‐binding protein active in splicing that concentrates into membraneless
ribonucleoprotein granules and forms aggregates in amyotrophic lateral sclerosis (ALS) and …

[HTML][HTML] Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis

SC Ling, M Polymenidou, DW Cleveland - Neuron, 2013 - cell.com
Breakthrough discoveries identifying common genetic causes for amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these …

The neuropathology of chronic traumatic encephalopathy

AC McKee, TD Stein, PT Kiernan, VE Alvarez - Brain pathology, 2015 - Wiley Online Library
Repetitive brain trauma is associated with a progressive neurological deterioration, now
termed as chronic traumatic encephalopathy (CTE). Most instances of CTE occur in …

Physiological functions and pathobiology of TDP‐43 and FUS/TLS proteins

A Ratti, E Buratti - Journal of neurochemistry, 2016 - Wiley Online Library
The multiple roles played by RNA binding proteins in neurodegeneration have become
apparent following the discovery of TAR DNA binding protein 43 kDa (TDP‐43) and fused in …

Library construction for next-generation sequencing: overviews and challenges

SR Head, HK Komori, SA LaMere, T Whisenant… - …, 2014 - Taylor & Francis
High-throughput sequencing, also known as next-generation sequencing (NGS), has
revolutionized genomic research. In recent years, NGS technology has steadily improved …