The Impact of ALS-Associated Genes hnRNPA1, MATR3, VCP and UBQLN2 on the Severity of TDP-43 Aggregation

Stress- and ubiquitylation-dependent phase separation of the proteasome

(2020) Sayaka Yasuda et al.   NATURE

Liquid–Liquid Phase Separation and Its Mechanistic Role in Pathological Protein Aggregation

(2020) W. Michael Babinchak et al.   JOURNAL OF MOLECULAR BIOLOGY

Astrocytes with TDP-43 inclusions exhibit reduced noradrenergic cAMP and Ca2+ signaling and dysregulated cell metabolism

(2020) Jelena Velebit et al.   Scientific Reports

RNA Binding Antagonizes Neurotoxic Phase Transitions of TDP-43

(2019) Jacob R. Mann et al.   NEURON

Cytoplasmic TDP-43 De-mixing Independent of Stress Granules Drives Inhibition of Nuclear Import, Loss of Nuclear TDP-43, and Cell Death

(2019) Fatima Gasset-Rosa et al.   NEURON

Detection of TAR DNA-binding protein 43 (TDP-43) oligomers as initial intermediate species during aggregate formation

(2019) Rachel L. French et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The role of liquid-liquid phase separation in aggregation of the TDP-43 low complexity domain

(2019) W. Michael Babinchak et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The debated toxic role of aggregated TDP-43 in amyotrophic lateral sclerosis: a resolution in sight?

(2019) Rudolf C Hergesheimer et al.   BRAIN

Risk Factors and Emerging Therapies in Amyotrophic Lateral Sclerosis

(2019) Natalia Nowicka et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

N-terminal sequences in matrin 3 mediate phase separation into droplet-like structures that recruit TDP43 variants lacking RNA binding elements

(2019) M. Carolina Gallego-Iradi et al.   LABORATORY INVESTIGATION

ULK1 and ULK2 Regulate Stress Granule Disassembly Through Phosphorylation and Activation of VCP/p97

(2019) Bo Wang et al.   MOLECULAR CELL

Cross-Regulation between TDP-43 and Paraspeckles Promotes Pluripotency-Differentiation Transition

(2019) Miha Modic et al.   MOLECULAR CELL

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

(2019) Thuy P. Dao et al.   STRUCTURE

ALS and FTD: Where RNA metabolism meets protein quality control

(2019) Jessica Mandrioli et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Structural basis for reversible amyloids of hnRNPA1 elucidates their role in stress granule assembly

(2019) Xinrui Gui et al.   Nature Communications

Heterogeneous Nuclear Ribonucleoprotein E2 (hnRNP E2) Is a Component of TDP-43 Aggregates Specifically in the A and C Pathological Subtypes of Frontotemporal Lobar Degeneration

(2019) Wejdan Kattuah et al.   Frontiers in Neuroscience

Phase separation-deficient TDP43 remains functional in splicing

(2019) Hermann Broder Schmidt et al.   Nature Communications

TDP-43 and FUS–structural insights into RNA recognition and self-association

(2019) Fionna E Loughlin et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Phenotypic variability and its pathological basis in amyotrophic lateral sclerosis

(2019) Takahiro Takeda et al.   NEUROPATHOLOGY

Invited Review: The role of prion‐like mechanisms in neurodegenerative diseases

(2019) Z. Jaunmuktane et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Prion-like properties of assembled TDP-43

(2019) Takashi Nonaka et al.   CURRENT OPINION IN NEUROBIOLOGY

The physical forces mediating self-association and phase-separation in the C-terminal domain of TDP-43

(2018) Hao-Ru Li et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

A single N‐terminal phosphomimic disrupts TDP‐43 polymerization, phase separation, and RNA splicing

(2018) Ailin Wang et al.   EMBO JOURNAL

HNRNPA1 promotes recognition of splice site decoys by U2AF2 in vivo

(2018) Jonathan M. Howard et al.   GENOME RESEARCH

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

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

RNA buffers the phase separation behavior of prion-like RNA binding proteins

(2018) Shovamayee Maharana et al.   SCIENCE

Characterization of gene regulation and protein interaction networks for Matrin 3 encoding mutations linked to amyotrophic lateral sclerosis and myopathy

(2018) M. Carolina Gallego Iradi et al.   Scientific Reports

Matrin 3-dependent neurotoxicity is modified by nucleic acid binding and nucleocytoplasmic localization

(2018) Ahmed M Malik et al.   eLife

A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration

(2018) Daniel A Solomon et al.   BRAIN

Heteromeric RNP Assembly at LINEs Controls Lineage-Specific RNA Processing

(2018) Jan Attig et al.   CELL

The molecular language of membraneless organelles

(2018) Edward Gomes et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Relation Between Stress Granules and Cytoplasmic Protein Aggregates Linked to Neurodegenerative Diseases

(2018) Ioana Dobra et al.   Current Neurology and Neuroscience Reports

TDP-43 extracted from frontotemporal lobar degeneration subject brains displays distinct aggregate assemblies and neurotoxic effects reflecting disease progression rates

(2018) Florent Laferrière et al.   NATURE NEUROSCIENCE

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

Patient-derived frontotemporal lobar degeneration brain extracts induce formation and spreading of TDP-43 pathology in vivo

(2018) Sílvia Porta et al.   Nature Communications

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

(2017) Ian R. Mackenzie et al.   NEURON

Functional and dynamic polymerization of the ALS-linked protein TDP-43 antagonizes its pathologic aggregation

(2017) Tariq Afroz et al.   Nature Communications

Emerging roles of hnRNPA1 in modulating malignant transformation

(2017) Rajat Roy et al.   Wiley Interdisciplinary Reviews-RNA

Formation and spreading of TDP-43 aggregates in cultured neuronal and glial cells demonstrated by time-lapse imaging

(2017) Tomohiro Ishii et al.   PLoS One

ALS Associated Mutations in Matrin 3 Alter Protein-Protein Interactions and Impede mRNA Nuclear Export

(2017) Ashley Boehringer et al.   Scientific Reports

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

(2016) Wouter van Rheenen et al.   NATURE GENETICS

In vitro prion-like behaviour of TDP-43 in ALS

(2016) Phillip Smethurst et al.   NEUROBIOLOGY OF DISEASE

ALS Mutations Disrupt Phase Separation Mediated by α-Helical Structure in the TDP-43 Low-Complexity C-Terminal Domain

(2016) Alexander E. Conicella et al.   STRUCTURE

TDP-43 aggregation mirrors TDP-43 knockdown, affecting the expression levels of a common set of proteins

(2016) S. Prpar Mihevc et al.   Scientific Reports

Phase Separation by Low Complexity Domains Promotes Stress Granule Assembly and Drives Pathological Fibrillization

(2015) Amandine Molliex et al.   CELL

Nuclear matrix protein Matrin3 regulates alternative splicing and forms overlapping regulatory networks with PTB

(2015) M. B. Coelho et al.   EMBO JOURNAL

Phosphorylation of C-terminal tyrosine residue 526 in FUS impairs its nuclear import

(2015) S. Darovic et al.   JOURNAL OF CELL SCIENCE

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

(2015) Yuan Lin et al.   MOLECULAR CELL

Proteomic analyses reveal that loss of TDP-43 affects RNA processing and intracellular transport

(2015) M. Štalekar et al.   NEUROSCIENCE

Binding of TDP-43 to the 3′UTR of Its Cognate mRNA Enhances Its Solubility

(2014) Yulong Sun et al.   BIOCHEMISTRY

Inhibition of autophagy, lysosome and VCP function impairs stress granule assembly

(2014) S J Seguin et al.   CELL DEATH AND DIFFERENTIATION

Ubiquilin 2: A component of the ubiquitin–proteasome system with an emerging role in neurodegeneration

(2014) Katharine Y. Zhang et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

The VCP/p97 system at a glance: connecting cellular function to disease pathogenesis

(2014) H. Meyer et al.   JOURNAL OF CELL SCIENCE

Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species

(2014) E. L. Scotter et al.   JOURNAL OF CELL SCIENCE

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

(2014) Janel O Johnson et al.   NATURE NEUROSCIENCE

Allele-Specific Knockdown of ALS-Associated Mutant TDP-43 in Neural Stem Cells Derived from Induced Pluripotent Stem Cells

(2014) Agnes L. Nishimura et al.   PLoS One

Eukaryotic Stress Granules Are Cleared by Autophagy and Cdc48/VCP Function

(2013) J. Ross Buchan et al.   CELL

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

(2013) Caroline Vance et al.   HUMAN MOLECULAR GENETICS

The dual functions of the extreme N-terminus of TDP-43 in regulating its biological activity and inclusion formation

(2013) Yong-Jie Zhang et al.   HUMAN MOLECULAR GENETICS

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

(2013) Hong Joo Kim et al.   NATURE

Inhibition of TDP-43 Aggregation by Nucleic Acid Binding

(2013) Yi-Chen Huang et al.   PLoS One

Prion-like Properties of Pathological TDP-43 Aggregates from Diseased Brains

(2013) Takashi Nonaka et al.   Cell Reports

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

(2012) Jacqueline C. Mitchell et al.   ACTA NEUROPATHOLOGICA

TDP-43 aggregation in neurodegeneration: Are stress granules the key?

(2012) Colleen M. Dewey et al.   BRAIN RESEARCH

Heterogeneous nuclear ribonucleoprotein A1 in health and neurodegenerative disease: From structural insights to post-transcriptional regulatory roles

(2012) Uriya Bekenstein et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain

(2012) Boris Rogelj et al.   Scientific Reports

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Involvement of Matrin 3 and SFPQ/NONO in the DNA damage response

(2011) Maayan Salton et al.   CELL CYCLE

TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1

(2011) Karli K. McDonald et al.   HUMAN MOLECULAR GENETICS

A Seeding Reaction Recapitulates Intracellular Formation of Sarkosyl-insoluble Transactivation Response Element (TAR) DNA-binding Protein-43 Inclusions

(2011) Yoshiaki Furukawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2011) Han-Xiang Deng et al.   NATURE

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43

(2011) James R Tollervey et al.   NATURE NEUROSCIENCE

Matrin 3 Binds and Stabilizes mRNA

(2011) Maayan Salton et al.   PLoS One

VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD

(2010) Emilie Tresse et al.   Autophagy

Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration

(2010) Agnes L. Nishimura et al.   BRAIN

TDP-43 Is Directed to Stress Granules by Sorbitol, a Novel Physiological Osmotic and Oxidative Stressor

(2010) C. M. Dewey et al.   MOLECULAR AND CELLULAR BIOLOGY

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Tar DNA Binding Protein-43 (TDP-43) Associates with Stress Granules: Analysis of Cultured Cells and Pathological Brain Tissue

(2010) Liqun Liu-Yesucevitz et al.   PLoS One

ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS

(2010) S.-C. Ling et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TDP-43 is recruited to stress granules in conditions of oxidative insult

(2009) Claudia Colombrita et al.   JOURNAL OF NEUROCHEMISTRY

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

(2009) C. Vance et al.   SCIENCE

Visualizing Spatiotemporal Dynamics of Multicellular Cell-Cycle Progression

(2008) Asako Sakaue-Sawano et al.   CELL

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE