A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD

ALS and FTD: an epigenetic perspective

(2016) Veronique V. Belzil et al.   ACTA NEUROPATHOLOGICA

C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells

(2016) Rustam Esanov et al.   EXPERIMENTAL NEUROLOGY

The FMR1 promoter is selectively hydroxymethylated in primary neurons of fragile X syndrome patients

(2016) Rustam Esanov et al.   HUMAN MOLECULAR GENETICS

C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD

(2016) Yuanjing Liu et al.   NEURON

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

(2016) Jie Jiang et al.   NEURON

Methylation of C9orf72 expansion reduces RNA foci formation and dipeptide-repeat proteins expression in cells

(2016) Peter O. Bauer   NEUROSCIENCE LETTERS

Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells

(2016) Yaara Cohen-Hadad et al.   Stem Cell Reports

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients

(2015) Zhengrui Xi et al.   ACTA NEUROPATHOLOGICA

Emerging role of RNA•DNA hybrids inC9orf72-linked neurodegeneration

(2015) Jiou Wang et al.   CELL CYCLE

Bromodomain inhibitors regulate the C9ORF72 locus in ALS

(2015) Zane Zeier et al.   EXPERIMENTAL NEUROLOGY

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

(2015) Brian D. Freibaum et al.   NATURE

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

(2015) Ana Jovičić et al.   NATURE NEUROSCIENCE

C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence

(2015) C. T. McMillan et al.   NEUROLOGY

Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

(2015) Owen M. Peters et al.   NEURON

C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD

(2015) Jacqueline G. O’Rourke et al.   NEURON

C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD

(2014) Elaine Y. Liu et al.   ACTA NEUROPATHOLOGICA

Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients

(2014) Veronique V. Belzil et al.   BRAIN RESEARCH

Hypermethylation of the CpG-island near the C9orf72 G4C2-repeat expansion in FTLD patients

(2014) Zhengrui Xi et al.   HUMAN MOLECULAR GENETICS

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS

(2014) Zhaoming Su et al.   NEURON

Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability

(2014) Kaalak Reddy et al.   NUCLEIC ACIDS RESEARCH

Promoter-Bound Trinucleotide Repeat mRNA Drives Epigenetic Silencing in Fragile X Syndrome

(2014) D. Colak et al.   SCIENCE

Transcription-Associated R-Loop Formation across the Human FMR1 CGG-Repeat Region

(2014) Erick W. Loomis et al.   PLoS Genetics

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

(2013) Veronique V. Belzil et al.   ACTA NEUROPATHOLOGICA

Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion

(2013) Zhengrui Xi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gene regulation and epigenetics in Friedreich's ataxia

(2013) Cihangir Yandim et al.   JOURNAL OF NEUROCHEMISTRY

TET1 Controls CNS 5-Methylcytosine Hydroxylation, Active DNA Demethylation, Gene Transcription, and Memory Formation

(2013) Garrett A. Kaas et al.   NEURON

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

(2013) Christopher J. Donnelly 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

Epigenetic modifications in trinucleotide repeat diseases

(2013) Marguerite V. Evans-Galea et al.   TRENDS IN MOLECULAR MEDICINE

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia

(2012) Marka van Blitterswijk et al.   CURRENT OPINION IN NEUROLOGY

R-Loop Formation Is a Distinctive Characteristic of Unmethylated Human CpG Island Promoters

(2012) Paul A. Ginno et al.   MOLECULAR CELL

Tissue-specific Distribution and Dynamic Changes of 5-Hydroxymethylcytosine in Mammalian Genomes

(2011) Shannon Morey Kinney et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Tissue Distribution of 5-Hydroxymethylcytosine and Search for Active Demethylation Intermediates

(2010) Daniel Globisch et al.   PLoS One

The Nuclear DNA Base 5-Hydroxymethylcytosine Is Present in Purkinje Neurons and the Brain

(2009) S. Kriaucionis et al.   SCIENCE