Key role of UBQLN2 in pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia

Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis

(2019) Archana Prasad et al.   Frontiers in Molecular Neuroscience

Single Amino Acid Substitutions in Stickers, but Not Spacers, Substantially Alter UBQLN2 Phase Transitions and Dense Phase Material Properties

(2019) Yiran Yang et al.   JOURNAL OF PHYSICAL CHEMISTRY B

ALS-Linked Mutations Affect UBQLN2 Oligomerization and Phase Separation in a Position- and Amino Acid-Dependent Manner

(2019) Thuy P. Dao et al.   STRUCTURE

Depletion of Ubiquilin induces an augmentation in soluble ubiquitinated Drosophila TDP-43 to drive neurotoxicity in the fly

(2018) Salinee Jantrapirom et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Ubiquitin Modulates Liquid-Liquid Phase Separation of UBQLN2 via Disruption of Multivalent Interactions

(2018) Thuy P. Dao et al.   MOLECULAR CELL

Protective effects of Withania somnifera extract in SOD1G93A mouse model of amyotrophic lateral sclerosis

(2018) Kallol Dutta et al.   EXPERIMENTAL NEUROLOGY

Neuronal Expression of UBQLN2P497H Exacerbates TDP-43 Pathology in TDP-43G348C Mice through Interaction with Ubiquitin

(2018) Vincent Picher-Martel et al.   MOLECULAR NEUROBIOLOGY

Mutant UBQLN2 promotes toxicity by modulating intrinsic self-assembly

(2018) Lisa M. Sharkey et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ubiquilin 2 modulates ALS/FTD-linked FUS–RNA complex dynamics and stress granule formation

(2018) Elizabeth J. Alexander et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutant UBQLN2P497H in motor neurons leads to ALS-like phenotypes and defective autophagy in rats

(2018) Tianhong Chen et al.   Acta Neuropathologica Communications

Mutation-dependent aggregation and toxicity in a Drosophila model for UBQLN2-associated ALS

(2017) Sang Hwa Kim et al.   HUMAN MOLECULAR GENETICS

Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis

(2017) Elisa Teyssou et al.   NEUROBIOLOGY OF AGING

Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms

(2017) Andrea Markovinovic et al.   PROGRESS IN NEUROBIOLOGY

Liquid phase condensation in cell physiology and disease

(2017) Yongdae Shin et al.   SCIENCE

Intrinsically disordered linkers determine the interplay between phase separation and gelation in multivalent proteins

(2017) Tyler S Harmon et al.   eLife

No Evidence for Pathogenic Role of UBQLN2 Mutations in Sporadic Amyotrophic Lateral Sclerosis in the Mainland Chinese Population

(2017) Xiao Huang et al.   PLoS One

Disturbance of proteasomal and autophagic protein degradation pathways by amyotrophic lateral sclerosis-linked mutations in ubiquilin 2

(2016) Mayuko Osaka et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

UBQLN2 Mediates Autophagy-Independent Protein Aggregate Clearance by the Proteasome

(2016) Roland Hjerpe et al.   CELL

Increased Ubqln2 expression causes neuron death in transgenic rats

(2016) Bo Huang et al.   JOURNAL OF NEUROCHEMISTRY

Withania somnifera Reverses Transactive Response DNA Binding Protein 43 Proteinopathy in a Mouse Model of Amyotrophic Lateral Sclerosis/Frontotemporal Lobar Degeneration

(2016) Kallol Dutta et al.   Neurotherapeutics

Motor neuron disease, TDP-43 pathology, and memory deficits in mice expressing ALS–FTD-linkedUBQLN2mutations

(2016) Nhat T. T. Le et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

From animal models to human disease: a genetic approach for personalized medicine in ALS

(2016) Vincent Picher-Martel et al.   Acta Neuropathologica Communications

A Liquid-to-Solid Phase Transition of the ALS Protein FUS Accelerated by Disease Mutation

(2015) Avinash Patel et al.   CELL

ALS-linked mutations in ubiquilin-2 or hnRNPA1 reduce interaction between ubiquilin-2 and hnRNPA1

(2015) Kathleen M. Gilpin et al.   HUMAN MOLECULAR GENETICS

Autophagy receptor defects and ALS-FTLD

(2015) Veronika Majcher et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Formation and Maturation of Phase-Separated Liquid Droplets by RNA-Binding Proteins

(2015) Yuan Lin et al.   MOLECULAR CELL

Viral expression of ALS-linked ubiquilin-2 mutants causes inclusion pathology and behavioral deficits in mice

(2015) Carolina Ceballos-Diaz et al.   Molecular Neurodegeneration

The distinct genetic pattern of ALS in Turkey and novel mutations

(2015) Aslıhan Özoğuz et al.   NEUROBIOLOGY OF AGING

Defective Proteasome Delivery of Polyubiquitinated Proteins by Ubiquilin-2 Proteins Containing ALS Mutations

(2015) Lydia Chang et al.   PLoS One

Alterations in stress granule dynamics driven by TDP-43 and FUS: a link to pathological inclusions in ALS?

(2015) Anaïs Aulas et al.   Frontiers in Cellular Neuroscience

Ubiquilin-2 drives NF-κB activity and cytosolic TDP-43 aggregation in neuronal cells

(2015) Vincent Picher-Martel et al.   Molecular Brain

Pathogenic Ubqln2 gains toxic properties to induce neuron death

(2014) Qinxue Wu et al.   ACTA NEUROPATHOLOGICA

UBQLN2mutation causing heterogeneous X-linked dominant neurodegeneration

(2014) Akl C. Fahed et al.   ANNALS OF NEUROLOGY

The Ubiquitin-Proteasome System in Neurodegeneration

(2014) Chris McKinnon et al.   ANTIOXIDANTS & REDOX SIGNALING

Evidence of a link between ubiquilin 2 and optineurin in amyotrophic lateral sclerosis

(2014) Mayuko Osaka et al.   HUMAN MOLECULAR GENETICS

Early-Stage Treatment with Withaferin A Reduces Levels of Misfolded Superoxide Dismutase 1 and Extends Lifespan in a Mouse Model of Amyotrophic Lateral Sclerosis

(2014) Priyanka Patel et al.   Neurotherapeutics

Dendritic spinopathy in transgenic mice expressing ALS/dementia-linked mutantUBQLN2

(2014) George H. Gorrie et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ubiquilin-2 (UBQLN2) binds with high affinity to the C-terminal region of TDP-43 and modulates TDP-43 levels in H4 cells: Characterization of inhibition by nucleic acids and 4-aminoquinolines

(2013) Joel A. Cassel et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Pathogenic mutation of UBQLN2 impairs its interaction with UBXD8 and disrupts endoplasmic reticulum-associated protein degradation

(2013) Yuxing Xia et al.   JOURNAL OF NEUROCHEMISTRY

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

(2013) Hong Joo Kim et al.   NATURE

Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients

(2013) Lubina Dillen et al.   NEUROBIOLOGY OF AGING

Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2

(2013) Jaime Vengoechea et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Amyotrophic Lateral Sclerosis: New Insights into Underlying Molecular Mechanisms and Opportunities for Therapeutic Intervention

(2012) Mauro Cozzolino et al.   ANTIOXIDANTS & REDOX SIGNALING

Ubiquilin 2mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia

(2012) Cinzia Gellera et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

UBQLN2 mutations are rare in French and French–Canadian amyotrophic lateral sclerosis

(2012) Hussein Daoud et al.   NEUROBIOLOGY OF AGING

Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype

(2012) Matthis Synofzik et al.   NEUROBIOLOGY OF AGING

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis

(2012) Kelly L. Williams et al.   NEUROBIOLOGY OF AGING

Deregulation of TDP-43 in amyotrophic lateral sclerosis triggers nuclear factor κB–mediated pathogenic pathways

(2011) Vivek Swarup et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Making Connections: Pathology and Genetics Link Amyotrophic Lateral Sclerosis with Frontotemporal Lobe Dementia

(2011) Faisal Fecto et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

C-Jun N-terminal kinase controls TDP-43 accumulation in stress granules induced by oxidative stress

(2011) Jodi Meyerowitz et al.   Molecular Neurodegeneration

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis

(2011) Stéphanie Millecamps et al.   NEUROBIOLOGY OF AGING

Ubiquilin functions in autophagy and is degraded by chaperone-mediated autophagy

(2010) C. Rothenberg et al.   HUMAN MOLECULAR GENETICS

Recognition of tandem PxxP motifs as a unique Src homology 3-binding mode triggers pathogen-driven actin assembly

(2010) O. Aitio et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

3D tomography reveals connections between the phagophore and endoplasmic reticulum

(2009) Päivi Ylä-Anttila et al.   Autophagy

PLIC proteins or ubiquilins regulate autophagy-dependent cell survival during nutrient starvation

(2009) Elsa-Noah N'Diaye et al.   EMBO REPORTS

TNFα- and NF-κB-dependent induction of the chemokine CCL1 in human macrophages exposed to the atherogenic lipoprotein(a)

(2009) Monique N'Diaye et al.   LIFE SCIENCES

A subdomain of the endoplasmic reticulum forms a cradle for autophagosome formation

(2009) Mitsuko Hayashi-Nishino et al.   NATURE CELL BIOLOGY

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

Herp enhances ER-associated protein degradation by recruiting ubiquilins

(2008) Tae-Yeon Kim et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS