C9orf72-associated neurodegeneration in ALS-FTD: breaking new ground in ribosomal RNA and nucleolar dysfunction

The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis

(2017) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics

(2017) Steven Boeynaems et al.   MOLECULAR CELL

C9orf72 expansion disrupts ATM-mediated chromosomal break repair

(2017) Callum Walker et al.   NATURE NEUROSCIENCE

Cellular bases of the RNA metabolism dysfunction in motor neurons of a murine model of spinal muscular atrophy: Role of Cajal bodies and the nucleolus

(2017) Olga Tapia et al.   NEUROBIOLOGY OF DISEASE

Ribosomal transcription is regulated by PGC-1alpha and disturbed in Huntington’s disease

(2017) Sarah Jesse et al.   Scientific Reports

Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration

(2017) Sarah Mizielinska et al.   Acta Neuropathologica Communications

C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles

(2016) Kyung-Ha Lee et al.   CELL

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease

(2016) Aaron R. Haeusler et al.   NATURE REVIEWS NEUROSCIENCE

Nucleophosmin integrates within the nucleolus via multi-modal interactions with proteins displaying R-rich linear motifs and rRNA

(2016) Diana M Mitrea et al.   eLife

Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing

(2015) Martin H. Schludi et al.   ACTA NEUROPATHOLOGICA

C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

(2015) Max Koppers et al.   ANNALS OF NEUROLOGY

Corticospinal Motor Neurons Are Susceptible to Increased ER Stress and Display Profound Degeneration in the Absence of UCHL1 Function

(2015) Javier H. Jara et al.   CEREBRAL CORTEX

Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity

(2015) Zhouteng Tao et al.   HUMAN MOLECULAR GENETICS

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

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

(2015) Ana Jovičić et al.   NATURE NEUROSCIENCE

Repression of rRNA transcription by PARIS contributes to Parkinson's disease

(2015) Hojin Kang et al.   NEUROBIOLOGY OF DISEASE

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

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

Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS

(2015) Helene Tran et al.   NEURON

Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions inC9ORF72gene

(2015) Atik Baborie et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Nucleolar responses to DNA double-strand breaks

(2015) Dorthe Helena Larsen et al.   NUCLEIC ACIDS RESEARCH

How Parkinson's disease meets nucleolar stress

(2014) Rosanna Parlato et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

(2014) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome

(2014) Vladimir S. Kostić et al.   JOURNAL OF NEUROLOGY

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

(2014) Adrian J. Waite et al.   NEUROBIOLOGY OF AGING

Antisense Proline-Arginine RAN Dipeptides Linked to C9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate In Vitro and In Vivo Neuronal Death

(2014) Xinmei Wen et al.   NEURON

Clogging information flow in ALS

(2014) J. W. Paul et al.   SCIENCE

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

Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations

(2013) Ian R. Mackenzie 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

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

RNA toxicity in human disease and animal models: From the uncovering of a new mechanism to the development of promising therapies

(2013) Géraldine Sicot et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Rodent models of amyotrophic lateral sclerosis

(2013) Philip McGoldrick et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Roles of the nucleolus in the CAG RNA-mediated toxicity

(2013) Ho Tsoi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Nucleolar dysfunction in Huntington's disease

(2013) Junghee Lee et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

(2013) Timothy P. Levine et al.   BIOINFORMATICS

A neuroprotective phase precedes striatal degeneration upon nucleolar stress

(2013) G Kreiner et al.   CELL DEATH AND DIFFERENTIATION

The nucleolus—guardian of cellular homeostasis and genome integrity

(2013) Ingrid Grummt   CHROMOSOMA

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

Controversies and priorities in amyotrophic lateral sclerosis

(2013) Martin R Turner et al.   LANCET NEUROLOGY

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

(2013) Hong Joo Kim et al.   NATURE

The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD

(2013) Naoki Suzuki et al.   NATURE NEUROSCIENCE

Amyotrophic lateral sclerosis—a model of corticofugal axonal spread

(2013) Heiko Braak et al.   Nature Reviews Neurology

The changing scene of amyotrophic lateral sclerosis

(2013) Wim Robberecht et al.   NATURE REVIEWS NEUROSCIENCE

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

Impaired rRNA synthesis triggers homeostatic responses in hippocampal neurons

(2013) Anna Kiryk et al.   Frontiers in Cellular Neuroscience

Unravelling the enigma of selective vulnerability in neurodegeneration: motor neurons resistant to degeneration in ALS show distinct gene expression characteristics and decreased susceptibility to excitotoxicity

(2012) Alice Brockington et al.   ACTA NEUROPATHOLOGICA

Amyotrophic lateral sclerosis

(2012) Albert C. Ludolph et al.   CURRENT OPINION IN NEUROLOGY

Nucleolar activity in neurodegenerative diseases: a missing piece of the puzzle?

(2012) Rosanna Parlato et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Frontotemporal lobar degeneration: current knowledge and future challenges

(2012) Chiara Cerami et al.   JOURNAL OF NEUROLOGY

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

(2012) Susan Byrne et al.   LANCET NEUROLOGY

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

Interaction of nucleolin with ribosomal RNA genes and its role in RNA polymerase I transcription

(2012) Rong Cong et al.   NUCLEIC ACIDS RESEARCH

Parkinson's Disease DJ-1 L166P Alters rRNA Biogenesis by Exclusion of TTRAP from the Nucleolus and Sequestration into Cytoplasmic Aggregates via TRAF6

(2012) Sandra Vilotti et al.   PLoS One

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

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

Nucleolar stress characterized by downregulation of nucleophosmin: A novel cause of neuronal degeneration

(2011) Esther Magdalena Marquez-Lona et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Autophagy Dysregulation in Amyotrophic Lateral Sclerosis

(2011) Sheng Chen et al.   BRAIN PATHOLOGY

The Seeds of Neurodegeneration: Prion-like Spreading in ALS

(2011) Magdalini Polymenidou et al.   CELL

Pten ablation in adult dopaminergic neurons is neuroprotective in Parkinson's disease models

(2011) Andrii Domanskyi et al.   FASEB JOURNAL

Nucleolar Disruption in Dopaminergic Neurons Leads to Oxidative Damage and Parkinsonism through Repression of Mammalian Target of Rapamycin Signaling

(2011) C. Rieker et al.   JOURNAL OF NEUROSCIENCE

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

(2011) Ilse Gijselinck et al.   LANCET NEUROLOGY

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

Dysfunction of constitutive and inducible ubiquitin-proteasome system in amyotrophic lateral sclerosis: Implication for protein aggregation and immune response

(2011) Caterina Bendotti et al.   PROGRESS IN NEUROBIOLOGY

The Nucleolus under Stress

(2010) Séverine Boulon et al.   MOLECULAR CELL

B23 acts as a nucleolar stress sensor and promotes cell survival through its dynamic interaction with hnRNPU and hnRNPA1

(2010) Z Yao et al.   ONCOGENE

Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction

(2009) Stefano Fumagalli et al.   NATURE CELL BIOLOGY

Activation of an Endogenous Suicide Response after Perturbation of rRNA Synthesis Leads to Neurodegeneration in Mice

(2008) R. Parlato et al.   JOURNAL OF NEUROSCIENCE