Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome

Heterogeneous nuclear ribonucleoproteins R and Q accumulate in pathological inclusions in FTLD-FUS

(2019) Lauren M. Gittings et al.   Acta Neuropathologica Communications

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

Abundance of Synaptic Vesicle-Related Proteins in Alpha-Synuclein-Containing Protein Inclusions Suggests a Targeted Formation Mechanism

(2019) Amellia McCormack et al.   NEUROTOXICITY RESEARCH

The tissue- and developmental stage-specific involvement of autophagy genes in aggrephagy

(2019) Hui Zheng et al.   Autophagy

New pathologic mechanisms in nucleotide repeat expansion disorders

(2019) C.M. Rodriguez et al.   NEUROBIOLOGY OF DISEASE

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

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

Immunohistochemical localization of exoribonucleases (DIS3L2 and XRN1) in intranuclear inclusion body disease

(2018) Fumiaki Mori et al.   NEUROSCIENCE LETTERS

Super-resolution imaging identifies PARP1 and the Ku complex acting as DNA double-strand break sensors

(2018) Guang Yang et al.   NUCLEIC ACIDS RESEARCH

Site-specific characterization of endogenous SUMOylation across species and organs

(2018) Ivo A. Hendriks et al.   Nature Communications

RNA binding proteins co-localize with small tau inclusions in tauopathy

(2018) Brandon F. Maziuk et al.   Acta Neuropathologica Communications

Biochemical and morphological classification of disease-associated alpha-synuclein mutants aggregates

(2018) Goki Tanaka et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models

(2018) Martina Marinello et al.   Disease Models & Mechanisms

Carbonyl reductase 1 is a new target to improve the effect of radiotherapy on head and neck squamous cell carcinoma

(2018) Miyong Yun et al.   JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH

An Integrative Study of Protein-RNA Condensates Identifies Scaffolding RNAs and Reveals Players in Fragile X-Associated Tremor/Ataxia Syndrome

(2018) Fernando Cid-Samper et al.   Cell Reports

Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome

(2017) Gaëlle Robin et al.   HUMAN MOLECULAR GENETICS

Unbiased Proteomics of Early Lewy Body Formation Model Implicates Active Microtubule Affinity-Regulating Kinases (MARKs) in Synucleinopathies

(2017) Michael X. Henderson et al.   JOURNAL OF NEUROSCIENCE

Increased SUMO-2/3-ylation mediated by SENP3 degradation is protective against cadmium-induced caspase 3–dependent cytotoxicity

(2017) Jia Luo et al.   JOURNAL OF TOXICOLOGICAL SCIENCES

C9orf72 expansion disrupts ATM-mediated chromosomal break repair

(2017) Callum Walker et al.   NATURE NEUROSCIENCE

Autophagy and Neurodegeneration: Pathogenic Mechanisms and Therapeutic Opportunities

(2017) Fiona M. Menzies et al.   NEURON

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

(2017) Chantal Sellier et al.   NEURON

Autophagy fails to prevent glucose deprivation/glucose reintroduction-induced neuronal death due to calpain-mediated lysosomal dysfunction in cortical neurons

(2017) Cristian Gerónimo-Olvera et al.   Cell Death & Disease

Protein SUMOylation modification and its associations with disease

(2017) Yanfang Yang et al.   Open Biology

Ubiquitin-dependent and independent roles of SUMO in proteostasis

(2016) Frauke Liebelt et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

SQSTM1/p62 mediates crosstalk between autophagy and the UPS in DNA repair

(2016) Graeme Hewitt et al.   Autophagy

Molecular Pathophysiology of Fragile X-Associated Tremor/Ataxia Syndrome and Perspectives for Drug Development

(2016) Teresa Botta-Orfila et al.   CEREBELLUM

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

(2016) Jeanelle Ariza et al.   CEREBELLUM

Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers

(2016) Deborah A. Hall et al.   CEREBELLUM

Human carbonyl reductase 1 as efficient catalyst for the reduction of glutathionylated aldehydes derived from lipid peroxidation

(2016) Rossella Rotondo et al.   FREE RADICAL BIOLOGY AND MEDICINE

Mitochondrial NADP + -Dependent Isocitrate Dehydrogenase Deficiency Exacerbates Mitochondrial and Cell Damage after Kidney Ischemia-Reperfusion Injury

(2016) Sang Jun Han et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Altered Redox Mitochondrial Biology in the Neurodegenerative Disorder Fragile X-Tremor/Ataxia Syndrome: Use of Antioxidants in Precision Medicine

(2016) Gyu Song et al.   MOLECULAR MEDICINE

Impaired Mitochondrial Function and Dynamics in the Pathogenesis of FXTAS

(2016) M. I. Alvarez-Mora et al.   MOLECULAR NEUROBIOLOGY

Fragile X-associated tremor/ataxia syndrome — features, mechanisms and management

(2016) Randi J. Hagerman et al.   Nature Reviews Neurology

SUMOylation of PES1 upregulates its stability and function via inhibiting its ubiquitination

(2016) Shujing Li et al.   Oncotarget

Mass spectrometric analysis of accumulated TDP-43 in amyotrophic lateral sclerosis brains

(2016) Fuyuki Kametani et al.   Scientific Reports

Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers

(2015) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Can your protein be sumoylated? A quick summary and important tips to study SUMO-modified proteins

(2015) Yuxuan Xiao et al.   ANALYTICAL BIOCHEMISTRY

Fragile X-associated tremor/ataxia syndrome

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

Lipofuscin, lipofuscin-like pigments and autofluorescence

(2015) G. Di Guardo   EUROPEAN JOURNAL OF HISTOCHEMISTRY

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

A First Line of Stress Defense: Small Heat Shock Proteins and Their Function in Protein Homeostasis

(2015) Martin Haslbeck et al.   JOURNAL OF MOLECULAR BIOLOGY

The emerging role of peptidyl-prolyl isomerase chaperones in tau oligomerization, amyloid processing, and Alzheimer's disease

(2015) Laura J. Blair et al.   JOURNAL OF NEUROCHEMISTRY

Tau-driven 26S proteasome impairment and cognitive dysfunction can be prevented early in disease by activating cAMP-PKA signaling

(2015) Natura Myeku et al.   NATURE MEDICINE

The DNA damage response induces inflammation and senescence by inhibiting autophagy of GATA4

(2015) C. Kang et al.   SCIENCE

Structurally Distinct Ubiquitin- and Sumo-Modified PCNA: Implications for Their Distinct Roles in the DNA Damage Response

(2015) Susan E. Tsutakawa et al.   STRUCTURE

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

(2014) Stephanie May et al.   ACTA NEUROPATHOLOGICA

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

(2014) Johnathan Cooper-Knock et al.   BRAIN

Calpain-dependent clearance of the autophagy protein p62/SQSTM1 is a contributor to ΔPK oncolytic activity in melanoma

(2014) A Colunga et al.   GENE THERAPY

Depletion of p62 reduces nuclear inclusions and paradoxically ameliorates disease phenotypes in Huntington's model mice

(2014) Masaru Kurosawa et al.   HUMAN MOLECULAR GENETICS

Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome

(2014) Robert F Berman et al.   Journal of Neurodevelopmental Disorders

SUMOylation at K340 inhibits tau degradation through deregulating its phosphorylation and ubiquitination

(2014) Hong-Bin Luo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical and molecular implications of mosaicism in FMR1 full mutations

(2014) Dalyir Pretto et al.   Frontiers in Genetics

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

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

(2013) Paul Hagerman   ACTA NEUROPATHOLOGICA

Expanding SUMO and ubiquitin-mediated signaling through hybrid SUMO-ubiquitin chains and their receptors

(2013) Catherine M. Guzzo et al.   CELL CYCLE

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

(2013) Peter K. Todd et al.   NEURON

Profiling of Parkin-Binding Partners Using Tandem Affinity Purification

(2013) Alessandra Zanon et al.   PLoS One

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

SUMO-2 and PIAS1 Modulate Insoluble Mutant Huntingtin Protein Accumulation

(2013) Jacqueline Gire O’Rourke et al.   Cell Reports

Intranuclear inclusions in a fragile X mosaic male

(2013) Dalyir I Pretto et al.   Translational Neurodegeneration

Detection and Quantification of Bacterial Autofluorescence at the Single-Cell Level by a Laboratory-Built High-Sensitivity Flow Cytometer

(2012) Lingling Yang et al.   ANALYTICAL CHEMISTRY

RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome

(2012) Yujing Li et al.   BRAIN RESEARCH

Signaling defects in iPSC-derived fragile X premutation neurons

(2012) Jing Liu et al.   HUMAN MOLECULAR GENETICS

Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone

(2012) Zhengyu Cao et al.   HUMAN MOLECULAR GENETICS

Early mitochondrial abnormalities in hippocampal neurons cultured fromFmr1pre-mutation mouse model

(2012) Eitan S. Kaplan et al.   JOURNAL OF NEUROCHEMISTRY

Quantitative Analysis of the Detergent-Insoluble Brain Proteome in Frontotemporal Lobar Degeneration Using SILAC Internal Standards

(2012) Nicholas T. Seyfried et al.   JOURNAL OF PROTEOME RESEARCH

Flow cytometric characterization of marine microbes

(2012) Timothy W. Petersen et al.   METHODS

SUMO1 modulates Aβ generation via BACE1 accumulation

(2012) Sang-Moon Yun et al.   NEUROBIOLOGY OF AGING

Coaggregation of RNA-Binding Proteins in a Model of TDP-43 Proteinopathy with Selective RGG Motif Methylation and a Role for RRM1 Ubiquitination

(2012) Eric B. Dammer et al.   PLoS One

Human and rat brain lipofuscin proteome

(2012) Philipp Ottis et al.   PROTEOMICS

Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene

(2011) D Z Loesch et al.   CLINICAL GENETICS

The role of ubiquitin–proteasome system in ageing

(2011) Peter Löw   GENERAL AND COMPARATIVE ENDOCRINOLOGY

Shared and unique properties of ubiquitin and SUMO interaction networks in DNA repair

(2011) S. J. L. van Wijk et al.   GENES & DEVELOPMENT

CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS

(2011) G. Hoem et al.   HUMAN MOLECULAR GENETICS

Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome

(2011) Eleonora Napoli et al.   HUMAN MOLECULAR GENETICS

Crystal Structure of the Ubiquitin-associated (UBA) Domain of p62 and Its Interaction with Ubiquitin

(2011) Shin Isogai et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

PARP regulates nonhomologous end joining through retention of Ku at double-strand breaks

(2011) C. Anne-Marie Couto et al.   JOURNAL OF CELL BIOLOGY

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

Nuclear Accumulation of Stress Response mRNAs Contributes to the Neurodegeneration Caused by Fragile X Premutation rCGG Repeats

(2011) Abrar Qurashi et al.   PLoS Genetics

Proteomic Analysis of Hippocampal Dentate Granule Cells in Frontotemporal Lobar Degeneration: Application of Laser Capture Technology

(2011) Yair M. Gozal et al.   Frontiers in Neurology

The in vitro cleavage of the hAtg proteins by cell death proteases

(2010) Joanna M. Norman et al.   Autophagy

Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome

(2010) Catherine Ross-Inta et al.   BIOCHEMICAL JOURNAL

Proteomic characterization of an isolated fraction of synthetic proteasome inhibitor (PSI)-induced inclusions in PC12 cells might offer clues to aggresomes as a cellular defensive response against proteasome inhibition by PSI

(2010) Xing'an Li et al.   BMC NEUROSCIENCE

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

(2010) Chantal Sellier et al.   EMBO JOURNAL

Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development

(2010) Christopher L. Cunningham et al.   HUMAN MOLECULAR GENETICS

Advances in understanding the molecular basis of FXTAS

(2010) D. Garcia-Arocena et al.   HUMAN MOLECULAR GENETICS

Protein SUMOylation in neuropathological conditions

(2009) D.B. Anderson et al.   DRUG NEWS & PERSPECTIVES

Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration

(2009) Y. Chen et al.   HUMAN MOLECULAR GENETICS

Transglutaminase-mediated Intramolecular Cross-linking of Membrane-bound α-Synuclein Promotes Amyloid Formation in Lewy Bodies

(2009) Zoltán Nemes et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Nucleocytoplasmic Shuttling of p62/SQSTM1 and Its Role in Recruitment of Nuclear Polyubiquitinated Proteins to Promyelocytic Leukemia Bodies

(2009) Serhiy Pankiv et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Viable Cell Sorting of Dinoflagellates by Multiparametric Flow Cytometry

(2009) Christopher D. Sinigalliano et al.   PHYCOLOGIA

Chaperone proteins identified from synthetic proteasome inhibitor-induced inclusions in PC12 cells by proteomic analysis

(2008) Xing'an Li et al.   ACTA BIOCHIMICA ET BIOPHYSICA SINICA

NSF, Unc-18-1, dynamin-1 and HSP90 are inclusion body components in neuronal intranuclear inclusion disease identified by anti-SUMO-1-immunocapture

(2008) Dean L. Pountney et al.   ACTA NEUROPATHOLOGICA

Hypocretin and Melanin-Concentrating Hormone in Patients with Huntington Disease

(2008) Ahmad Aziz et al.   BRAIN PATHOLOGY

Proteomic identification of novel proteins associated with Lewy bodies

(2008) Qiangwei Xia   Frontiers in Bioscience-Landmark

SUMO-2/3 Modification and Binding Regulate the Association of CENP-E with Kinetochores and Progression through Mitosis

(2008) Xiang-Dong Zhang et al.   MOLECULAR CELL