CRISPR deletion of the C9ORF72 promoter in ALS/FTD patient motor neurons abolishes production of dipeptide repeat proteins and rescues neurodegeneration

Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins

(2020) Masin Abo-Rady et al.   Stem Cell Reports

Antisense Oligonucleotide Therapies for Neurodegenerative Diseases

(2019) C. Frank Bennett et al.   Annual Review of Neuroscience

Production of poly(GA) in C9ORF72 patient motor neurons derived from induced pluripotent stem cells

(2019) Sandra Almeida et al.   ACTA NEUROPATHOLOGICA

Transcription elongation factor AFF2/FMR2 regulates expression of expanded GGGGCC repeat-containing C9ORF72 allele in ALS/FTD

(2019) Yeliz Yuva-Aydemir et al.   Nature Communications

CRISPR interference-based specific and efficient gene inactivation in the brain

(2018) Yi Zheng et al.   NATURE NEUROSCIENCE

Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients

(2018) Daniel A. Mordes et al.   Acta Neuropathologica Communications

C9orf72 is required for proper macrophage and microglial function in mice

(2016) J. G. ORourke et al.   SCIENCE

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

(2013) Sandra Almeida et al.   ACTA NEUROPATHOLOGICA

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

(2013) Peter E.A. Ash et al.   NEURON

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

(2013) T. Zu 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

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