Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration

EB Lee, VMY Lee, JQ Trojanowski - Nature Reviews Neuroscience, 2012 - nature.com
RNA-binding proteins, and in particular TAR DNA-binding protein 43 (TDP43), are central to
the pathogenesis of motor neuron diseases and related neurodegenerative disorders …

The genetics and neuropathology of amyotrophic lateral sclerosis

A Al-Chalabi, A Jones, C Troakes, A King… - Acta …, 2012 - Springer
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of motor neurons
leading to death from respiratory failure within about 3 years of symptom onset. A family …

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

C Lagier-Tourenne, M Polymenidou, KR Hutt… - Nature …, 2012 - nature.com
FUS/TLS (fused in sarcoma/translocated in liposarcoma) and TDP-43 are integrally involved
in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. We found that FUS/TLS …

Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability

B Bilican, A Serio, SJ Barmada… - Proceedings of the …, 2012 - National Acad Sciences
Transactive response DNA-binding (TDP-43) protein is the dominant disease protein in
amyotrophic lateral sclerosis (ALS) and a subgroup of frontotemporal lobar degeneration …

EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

A Van Hoecke, L Schoonaert, R Lemmens… - Nature medicine, 2012 - nature.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor
neurons. Disease onset and progression are variable, with survival ranging from months to …

[HTML][HTML] FUS-SMN protein interactions link the motor neuron diseases ALS and SMA

T Yamazaki, S Chen, Y Yu, B Yan, TC Haertlein… - Cell reports, 2012 - cell.com
Mutations in the RNA binding protein FUS cause amyotrophic lateral sclerosis (ALS), a fatal
adult motor neuron disease. Decreased expression of SMN causes the fatal childhood motor …

TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathways

AS Chen-Plotkin, TL Unger, MD Gallagher… - Journal of …, 2012 - Soc Neuroscience
Frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) is a fatal
neurodegenerative disease with no available treatments. Mutations in the progranulin gene …

The complex molecular biology of amyotrophic lateral sclerosis (ALS)

RL Redler, NV Dokholyan - Progress in molecular biology and translational …, 2012 - Elsevier
Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disorder that
causes selective death of motor neurons followed by paralysis and death. A subset of ALS …

Misregulated RNA processing in amyotrophic lateral sclerosis

M Polymenidou, C Lagier-Tourenne, KR Hutt… - Brain research, 2012 - Elsevier
Amyotrophic lateral sclerosis (ALS) research is undergoing an era of unprecedented
discoveries with the identification of new genes as major genetic causes of this disease …

Frontotemporal dementia: implications for understanding Alzheimer disease

M Goedert, B Ghetti… - Cold Spring …, 2012 - perspectivesinmedicine.cshlp.org
Frontotemporal dementia (FTD) comprises a group of behavioral, language, and movement
disorders. On the basis of the nature of the characteristic protein inclusions, frontotemporal …