C9orf72 nucleotide repeat structures initiate molecular cascades of disease

Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

(2013) Sandra Almeida et al.   ACTA NEUROPATHOLOGICA

Ultrasensitive label-free amplified colorimetric detection of p53 based on G-quadruplex MBzymes

(2013) Hongbo Li et al.   BIOSENSORS & BIOELECTRONICS

The Disease-associated r(GGGGCC)nRepeat from theC9orf72Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures

(2013) Kaalak Reddy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Quantitative visualization of DNA G-quadruplex structures in human cells

(2013) Giulia Biffi et al.   Nature Chemistry

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

(2013) D. J. Hensman Moss et al.   NEUROLOGY

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

(2013) Christopher J. Donnelly et al.   NEURON

Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration

(2013) Z. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

(2013) C. Lagier-Tourenne et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion

(2013) D. Sareen et al.   Science Translational Medicine

The molecular basis of the frontotemporal lobar degeneration–amyotrophic lateral sclerosis spectrum

(2012) Tim van Langenhove et al.   ANNALS OF MEDICINE

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease

(2012) Sara Rollinson et al.   NEUROBIOLOGY OF AGING

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

(2012) Nicola J. Rutherford et al.   NEUROBIOLOGY OF AGING

Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians

(2012) Martin A. Kohli et al.   NEUROBIOLOGY OF AGING

Repeat Expansion inC9ORF72in Alzheimer's Disease

(2012) Elisa Majounie et al.   NEW ENGLAND JOURNAL OF MEDICINE

CAG expansion induces nucleolar stress in polyglutamine diseases

(2012) H. Tsoi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RNA-binding protein nucleolin in disease

(2012) Kotb Abdelmohsen et al.   RNA Biology

Emerging roles of the neuronal nucleolus

(2012) Michal Hetman et al.   TRENDS IN NEUROSCIENCES

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

(2012) Pietro Fratta et al.   Scientific Reports

Amyotrophic lateral sclerosis

(2011) Matthew C Kiernan et al.   LANCET

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Efficient detection of RNA-protein interactions using tethered RNAs

(2011) H. Iioka et al.   NUCLEIC ACIDS RESEARCH

Overexpression of ribosomal RNA in prostate cancer is common but not linked to rDNA promoter hypomethylation

(2011) M Uemura et al.   ONCOGENE

Long Tract of Untranslated CAG Repeats Is Deleterious in Transgenic Mice

(2011) Ren-Jun Hsu et al.   PLoS One

The Nucleolus under Stress

(2010) Séverine Boulon et al.   MOLECULAR CELL

Repeat expansion disease: progress and puzzles in disease pathogenesis

(2010) Albert R. La Spada et al.   NATURE REVIEWS GENETICS

Determinants of R-loop formation at convergent bidirectionally transcribed trinucleotide repeats

(2010) Kaalak Reddy et al.   NUCLEIC ACIDS RESEARCH

Universal sample preparation method for proteome analysis

(2009) Jacek R Wiśniewski et al.   NATURE METHODS

Four-stranded nucleic acids: structure, function and targeting of G-quadruplexes

(2008) Julian Leon Huppert   CHEMICAL SOCIETY REVIEWS

Comparative Genomics and Molecular Dynamics of DNA Repeats in Eukaryotes

(2008) G.-F. Richard et al.   MICROBIOLOGY AND MOLECULAR BIOLOGY REVIEWS