PAPER Chiang HH, Forsell C, Lilius L, Oijerstedt L, Thordardottir S, Shanmugarajan K, Westerlund M, Nennesmo I, Thonberg H, Graff C

Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration.

Eur J Hum Genet. 2013 Mar 6; PubMed: 23463024

Amelie K. Gubitz on Disease Mutations Zip Lock Stress Granules in Proteinopathy, ALS

COMMENT This collaborative research study provides new clues into how mutations in RNA-binding proteins may lead to degenerative disease. In the search for a causative gene mutation in a family with inherited multisystem proteinopathy (MSP) that was negative for

Christian Haass on Disease Mutations Zip Lock Stress Granules in Proteinopathy, ALS

COMMENT What an interesting and fantastic story! The hnRNP A2B1 gene was the top candidate in our recent isolation of proteins binding to the C9ORF72 hexanucleotide repeats (Mori et al., 2013). Moreover, we also saw for another hnRNP (hnRNP A3) a cytoplasmic redi

Virgil Muresan on Modeling Alzheimer's disease with iPSCs reveals stress phenotypes associated with intracellular Aβ and differential drug responsiveness.

COMMENT This extensive, collaborative study brings new evidence supporting the idea that the pathologically relevant amyloid-β peptide (Aβ) is produced and aggregates in compartments in the neuronal soma, including the endosomes, lysosomes, and the endoplasmic re

PAPER Bentmann E, Neumann M, Tahirovic S, Rodde R, Dormann D, Haass C

Requirements for stress granule recruitment of fused in sarcoma (FUS) and TAR DNA-binding protein of 43 kDa (TDP-43).

J Biol Chem. 2012 Jun 29;287(27):23079-94. PubMed: 22563080

PAPER Dormann D, Haass C

TDP-43 and FUS: a nuclear affair.

Trends Neurosci. 2011 Jun 21; PubMed: 21700347

PAPER Kato M, Han TW, Xie S, Shi K, Du X, Wu LC, Mirzaei H, Goldsmith EJ, Longgood J, Pei J, Grishin NV, Frantz DE, Schneider JW, Chen S, Li L, Sawaya MR, Eisenberg D, Tycko R, McKnight SL

Cell-free formation of RNA granules: low complexity sequence domains form dynamic fibers within hydrogels.

Cell. 2012 May 11;149(4):753-67. PubMed: 22579281

PAPER Buratti E, Brindisi A, Giombi M, Tisminetzky S, Ayala YM, Baralle FE

TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing.

J Biol Chem. 2005 Nov 11;280(45):37572-84. PubMed: 16157593

Syed Fahad Hassan

Pakistan

John Harrison on New Frontier: Developing Outcome Measures for Pre-dementia Trials

COMMENT A very interesting discussion in an area of key unmet need. I'm often asked by clients whether they should use traditional paper-and-pencil measures or computerized tests. I don't think it is a case of one or the other, but should instead be abo

Martijn Gebbink on New Assays for Aβ Oligomers—Spinal Fluid a Miss, Brain Awash

COMMENT At Crossbeta, we aim to use oligomeric species for drug discovery purposes, and we have put considerable effort in the characterization and isolation of biologically relevant oligomeric species. To overcome the problem of their transient and heterogeneous

PAPER Ferris SH, Lucca U, Mohs R, Dubois B, Wesnes K, Erzigkeit H, Geldmacher D, Bodick N

Objective psychometric tests in clinical trials of dementia drugs. Position paper from the International Working Group on Harmonization of Dementia Drug Guidelines.

Alzheimer Dis Assoc Disord. 1997;11 Suppl 3:34-8. PubMed: 9305514

Tennore Ramesh on Paper Alert: Zebrafish Say TDP-43 Causes ALS by Loss of Function

COMMENT A recent paper in Human Molecular Genetics also observed that TARDBPl compensates for the loss of TARDBP. tramesh 0 Tardbpl splicing rescues motor neuron and axonal development in a mutant tardbp zebrafish.

Disease Mutations Zip Lock Stress Granules in Proteinopathy, ALS

RESEARCH NEWS 2013-03-07 Research News Humankind’s 200 or so RNA-binding proteins have proved once again to be a plentiful hunting ground for genes linked to neurodegeneration—particularly when they include prion-like sequences. In the March 3 Nature online, researchers led by Pa

PAPER Nath A, Rhoades E

A flash in the pan: dissecting dynamic amyloid intermediates using fluorescence.

FEBS Lett. 2013 Apr 17;587(8):1096-105. PubMed: 23458258