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 …

[HTML][HTML] From animal models to human disease: a genetic approach for personalized medicine in ALS

V Picher-Martel, PN Valdmanis, PV Gould… - Acta neuropathologica …, 2016 - Springer
Abstract Amyotrophic Lateral Sclerosis (ALS) is the most frequent motor neuron disease in
adults. Classical ALS is characterized by the death of upper and lower motor neurons …

Loss of C9 ORF 72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

C Sellier, ML Campanari, C Julie Corbier… - The EMBO …, 2016 - embopress.org
An intronic expansion of GGGGCC repeats within the C9 ORF 72 gene is the most common
genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (ALS‐FTD) …

Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss

J Scekic‐Zahirovic, O Sendscheid, H El Oussini… - The EMBO …, 2016 - embopress.org
FUS is an RNA‐binding protein involved in amyotrophic lateral sclerosis (ALS) and
frontotemporal dementia (FTD). Cytoplasmic FUS‐containing aggregates are often …

[HTML][HTML] Pathogenesis of FUS-associated ALS and FTD: insights from rodent models

M Nolan, K Talbot, O Ansorge - Acta neuropathologica communications, 2016 - Springer
Disruptions to genes linked to RNA processing and homeostasis are implicated in the
pathogenesis of two pathologically related but clinically heterogeneous neurodegenerative …

TDP-43/FUS in motor neuron disease: Complexity and challenges

EN Guerrero, H Wang, J Mitra, PM Hegde… - Progress in …, 2016 - Elsevier
Amyotrophic lateral sclerosis (ALS), a common motor neuron disease affecting two per
100,000 people worldwide, encompasses at least five distinct pathological subtypes …

[HTML][HTML] Better targeting, better efficiency for wide-scale neuronal transduction with the synapsin promoter and AAV-PHP. B

KL Jackson, RD Dayton, BE Deverman… - Frontiers in molecular …, 2016 - frontiersin.org
Widespread genetic modification of cells in the central nervous system (CNS) with a viral
vector has become possible and increasingly more efficient. We previously applied an AAV9 …

[HTML][HTML] Templated aggregation of TAR DNA-binding protein of 43 kDa (TDP-43) by seeding with TDP-43 peptide fibrils

S Shimonaka, T Nonaka, G Suzuki, S Hisanaga… - Journal of Biological …, 2016 - ASBMB
TAR DNA-binding protein of 43 kDa (TDP-43) has been identified as the major component
of ubiquitin-positive neuronal and glial inclusions in frontotemporal lobar degeneration and …

[HTML][HTML] Structural analysis of disease-related TDP-43 D169G mutation: linking enhanced stability and caspase cleavage efficiency to protein accumulation

CH Chiang, C Grauffel, LS Wu, PH Kuo, LG Doudeva… - Scientific reports, 2016 - nature.com
The RNA-binding protein TDP-43 forms intracellular inclusions in amyotrophic lateral
sclerosis (ALS). While TDP-43 mutations have been identified in ALS patients, how these …

[HTML][HTML] Super-resolution microscopy reveals presynaptic localization of the ALS/FTD related protein FUS in hippocampal neurons

M Schoen, JM Reichel, M Demestre, S Putz… - Frontiers in cellular …, 2016 - frontiersin.org
Fused in Sarcoma (FUS) is a multifunctional RNA-/DNA-binding protein, which is involved in
the pathogenesis of the neurodegenerative disorders amyotrophic lateral sclerosis (ALS) …