Walking the tightrope: proteostasis and neurodegenerative disease

JJ Yerbury, L Ooi, A Dillin, DN Saunders… - Journal of …, 2016 - Wiley Online Library
A characteristic of many neurodegenerative diseases, including Alzheimer's disease (AD),
Parkinson's disease (PD), Huntington's disease (HD), and amyotrophic lateral sclerosis …

Genetics of FTLD: overview and what else we can expect from genetic studies

C Pottier, TA Ravenscroft… - Journal of …, 2016 - Wiley Online Library
Frontotemporal lobar degeneration (FTLD) comprises a highly heterogeneous group of
disorders clinically associated with behavioral and personality changes, language …

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

I Gijselinck, S Van Mossevelde, J van der Zee… - Molecular …, 2016 - nature.com
Pathological expansion of a G 4 C 2 repeat, located in the 5'regulatory region of C9orf72, is
the most common genetic cause of frontotemporal lobar degeneration (FTLD) and …

C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling

J Amick, A Roczniak-Ferguson… - Molecular biology of the …, 2016 - Am Soc Cell Biol
Hexanucleotide expansion in an intron of the C9orf72 gene causes amyotrophic lateral
sclerosis and frontotemporal dementia. However, beyond bioinformatics predictions that …

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 …

Defective recognition of LC3B by mutant SQSTM1/p62 implicates impairment of autophagy as a pathogenic mechanism in ALS-FTLD

A Goode, K Butler, J Long, J Cavey, D Scott, B Shaw… - Autophagy, 2016 - Taylor & Francis
Growing evidence implicates impairment of autophagy as a candidate pathogenic
mechanism in the spectrum of neurodegenerative disorders which includes amyotrophic …

Increased prevalence of autoimmune disease within C9 and FTD/MND cohorts: completing the picture

ZA Miller, VE Sturm, GB Camsari… - Neurology …, 2016 - AAN Enterprises
Objective: To determine the prevalence of autoimmune disease in symptomatic C9ORF72
(C9) mutation carriers and frontotemporal dementia with motor neuron disease (FTD/MND) …

Iron and neurodegeneration: is ferritinophagy the link?

G Biasiotto, D Di Lorenzo, S Archetti, I Zanella - Molecular neurobiology, 2016 - Springer
Mounting evidence indicates that the lysosome-autophagy pathway plays a critical role in
iron release from ferritin, the main iron storage cellular protein, hence in the distribution of …

The NINDS Parkinson's disease biomarkers program

LS Rosenthal, D Drake, RN Alcalay… - Movement …, 2016 - Wiley Online Library
Abstract Background Neuroprotection for Parkinson's disease (PD) remains elusive.
Biomarkers hold the promise of removing roadblocks to therapy development. The National …

[HTML][HTML] Novel diagnostic cerebrospinal fluid biomarkers for pathologic subtypes of frontotemporal dementia identified by proteomics

CE Teunissen, N Elias, MJA Koel-Simmelink… - Alzheimer's & Dementia …, 2016 - Elsevier
Introduction Reliable cerebrospinal fluid (CSF) biomarkers enabling identification of
frontotemporal dementia (FTD) and its pathologic subtypes are lacking. Methods Unbiased …