RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome

Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

(2014) Yong-Jie Zhang et al.   ACTA NEUROPATHOLOGICA

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

(2014) Stephanie May et al.   ACTA NEUROPATHOLOGICA

RNA–protein interactions in unstable microsatellite diseases

(2014) Apoorva Mohan et al.   BRAIN RESEARCH

Sorting out the trash: the spatial nature of eukaryotic protein quality control

(2014) Emily M Sontag et al.   CURRENT OPINION IN CELL BIOLOGY

Myotonic Dystrophy

(2014) Charles A. Thornton   NEUROLOGIC CLINICS

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

(2014) Zhaoming Su et al.   NEURON

Repeat-Associated Non-AUG Translation and Its Impact in Neurodegenerative Disease

(2014) Michael G. Kearse et al.   Neurotherapeutics

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

(2014) S. Mizielinska et al.   SCIENCE

Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

(2014) I. Kwon et al.   SCIENCE

Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders

(2014) Karen Usdin et al.   Frontiers in Genetics

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

(2013) Tania F. Gendron et al.   ACTA NEUROPATHOLOGICA

Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms

(2013) Paul Hagerman   ACTA NEUROPATHOLOGICA

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

(2013) Peter E.A. Ash et al.   NEURON

CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome

(2013) Peter K. Todd et al.   NEURON

Activation of mTOR Ameliorates Fragile X Premutation rCGG Repeat-Mediated Neurodegeneration

(2013) Yunting Lin et al.   PLoS One

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

Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome

(2013) Chantal Sellier et al.   Cell Reports

Large-Scale Screen for Modifiers of Ataxin-3-Derived Polyglutamine-Induced Toxicity in Drosophila

(2012) Hannes Voßfeldt et al.   PLoS One

Genes and pathways affected by CAG-repeat RNA-based toxicity in Drosophila

(2011) Shin-Yi Shieh et al.   HUMAN MOLECULAR GENETICS

Expanded polyglutamine domain possesses nuclear export activity which modulates subcellular localization and toxicity of polyQ disease protein via exportin-1

(2011) Wing Man Chan et al.   HUMAN MOLECULAR GENETICS

Wild-type and A315T mutant TDP-43 exert differential neurotoxicity in a Drosophila model of ALS

(2011) Patricia S. Estes et al.   HUMAN MOLECULAR GENETICS

Toward Fulfilling the Promise of Molecular Medicine in Fragile X Syndrome

(2010) Dilja D. Krueger et al.   Annual Review of Medicine

Primary Central Nervous System Lymphoma

(2010) Elizabeth R. Gerstner et al.   ARCHIVES OF NEUROLOGY

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

(2010) Chantal Sellier et al.   EMBO JOURNAL

Improved Activities of CREB Binding Protein, Heterogeneous Nuclear Ribonucleoproteins and Proteasome Following Downregulation of Noncoding hsr  Transcripts Help Suppress Poly(Q) Pathogenesis in Fly Models

(2010) M. Mallik et al.   GENETICS

Drosophila Histone Deacetylase 6 Protects Dopaminergic Neurons against α-Synuclein Toxicity by Promoting Inclusion Formation

(2010) Guiping Du et al.   MOLECULAR BIOLOGY OF THE CELL

Drosophila Parkin requires PINK1 for mitochondrial translocation and ubiquitinates Mitofusin

(2010) E. Ziviani et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Non-ATG-initiated translation directed by microsatellite expansions

(2010) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Histone Deacetylases Suppress CGG Repeat–Induced Neurodegeneration Via Transcriptional Silencing in Models of Fragile X Tremor Ataxia Syndrome

(2010) Peter K. Todd et al.   PLoS Genetics

RNA and Disease

(2009) Thomas A. Cooper et al.   CELL

Fibroblast phenotype in male carriers of FMR1 premutation alleles

(2009) Dolores Garcia-Arocena et al.   HUMAN MOLECULAR GENETICS

Autophagy and the ubiquitin-proteasome system: Collaborators in neuroprotection

(2008) Natalia B. Nedelsky et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Polyglutamine neurodegeneration: protein misfolding revisited

(2008) Aislinn J. Williams et al.   TRENDS IN NEUROSCIENCES