Neuropathology of RAN translation proteins in fragile X-associated tremor/ataxia syndrome

The FMRpolyGlycine Protein Mediates Aggregate Formation and Toxicity Independent of the CGG mRNA Hairpin in a Cellular Model for FXTAS

(2019) Gry Hoem et al.   Frontiers in Genetics

Repeat-Associated Non-ATG Translation: Molecular Mechanisms and Contribution to Neurological Disease

(2019) Lien Nguyen et al.   Annual Review of Neuroscience

Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome

(2018) M. Rebecca Glineburg et al.   BRAIN RESEARCH

Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome

(2017) Hoanna Castro et al.   HUMAN MOLECULAR GENETICS

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

(2017) Chantal Sellier et al.   NEURON

Repeat-associated non-AUG translation from antisense CCG repeats in fragile X tremor/ataxia syndrome

(2016) Amy Krans et al.   ANNALS OF NEUROLOGY

A Majority of FXTAS Cases Present with Intranuclear Inclusions Within Purkinje Cells

(2016) Jeanelle Ariza et al.   CEREBELLUM

CGG Repeat-Associated Non-AUG Translation Utilizes a Cap-Dependent Scanning Mechanism of Initiation to Produce Toxic Proteins

(2016) Michael G. Kearse et al.   MOLECULAR CELL

Fragile X-associated tremor/ataxia syndrome

(2015) Paul J. Hagerman et al.   Annals of the New York Academy of Sciences

Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS

(2015) Renate K. Hukema et al.   HUMAN MOLECULAR GENETICS

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

(2015) Seok Yoon Oh et al.   HUMAN MOLECULAR GENETICS

Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency

(2015) R.A.M. Buijsen et al.   HUMAN REPRODUCTION

FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

(2014) Ronald AM Buijsen et al.   Acta Neuropathologica Communications

The neuropathology associated with repeat expansions in the C9ORF72 gene

(2013) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

The Unstable Repeats—Three Evolving Faces of Neurological Disease

(2013) David L. Nelson et al.   NEURON

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

(2013) Peter K. Todd et al.   NEURON

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

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

(2011) Safa Al-Sarraj et al.   ACTA NEUROPATHOLOGICA

Rare Intranuclear Inclusions in the Brains of 3 Older Adult Males With Fragile X Syndrome: Implications for the Spectrum of Fragile X-Associated Disorders

(2011) Michael R. Hunsaker et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

(2010) Chantal Sellier et al.   EMBO JOURNAL