Inherited and Sporadic Amyotrophic Lateral Sclerosis and Fronto-Temporal Lobar Degenerations arising from Pathological Condensates of Phase Separating Proteins

Late Endosomes Act as mRNA Translation Platforms and Sustain Mitochondria in Axons

(2019) Jean-Michel Cioni et al.   CELL

Genetic Convergence Brings Clarity to the Enigmatic Red Line in ALS

(2019) Casey Cook et al.   NEURON

Intrinsically disordered proteins in synaptic vesicle trafficking and release

(2019) David Snead et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Frontotemporal Dementia: A Clinical Review

(2019) Harri Sivasathiaseelan et al.   SEMINARS IN NEUROLOGY

An Intramolecular Salt Bridge Linking TDP43 RNA Binding, Protein Stability, and TDP43-Dependent Neurodegeneration

(2019) Brittany N. Flores et al.   Cell Reports

Genetics and molecular mechanisms of frontotemporal lobar degeneration: an update and future avenues

(2019) Ferrari Raffaele et al.   NEUROBIOLOGY OF AGING

RNA Granules Hitchhike on Lysosomes for Long-Distance Transport, Using Annexin A11 as a Molecular Tether

(2019) Ya-Cheng Liao et al.   CELL

TDP-43 NTD can be induced while CTD is significantly enhanced by ssDNA to undergo liquid-liquid phase separation

(2018) Lu Wang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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 Molecular Grammar Governing the Driving Forces for Phase Separation of Prion-like RNA Binding Proteins

(2018) Jie Wang et al.   CELL

FUS Phase Separation Is Modulated by a Molecular Chaperone and Methylation of Arginine Cation-π Interactions

(2018) Seema Qamar et al.   CELL

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

(2018) Ailin Wang et al.   EMBO JOURNAL

TAR DNA-binding protein 43 (TDP-43) liquid–liquid phase separation is mediated by just a few aromatic residues

(2018) Hao-Ru Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Quality Control of Membraneless Organelles

(2018) Simon Alberti et al.   JOURNAL OF MOLECULAR BIOLOGY

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

(2018) Ruth Chia et al.   LANCET NEUROLOGY

Atomic structures of TDP-43 LCD segments and insights into reversible or pathogenic aggregation

(2018) Elizabeth L. Guenther et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

RNP-Granule Assembly via Ataxin-2 Disordered Domains Is Required for Long-Term Memory and Neurodegeneration

(2018) Baskar Bakthavachalu et al.   NEURON

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

(2018) Shovamayee Maharana et al.   SCIENCE

Atomic structures of low-complexity protein segments reveal kinked β sheets that assemble networks

(2018) Michael P. Hughes et al.   SCIENCE

A liquid phase of synapsin and lipid vesicles

(2018) Dragomir Milovanovic et al.   SCIENCE

Protein Phase Separation: A New Phase in Cell Biology

(2018) Steven Boeynaems et al.   TRENDS IN CELL BIOLOGY

Atomic structures of TDP-43 LCD segments and insights into reversible or pathogenic aggregation

(2018) Elizabeth L. Guenther et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Citrullination of RGG Motifs in FET Proteins by PAD4 Regulates Protein Aggregation and ALS Susceptibility

(2018) Chizu Tanikawa et al.   Cell Reports

Pi-Pi contacts are an overlooked protein feature relevant to phase separation

(2018) Robert McCoy Vernon et al.   eLife

The molecular language of membraneless organelles

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

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS

(2018) Jone López-Erauskin et al.   NEURON

Review: Neuropathology of non-tau frontotemporal lobar degeneration

(2018) M. Neumann et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Recent advances in the molecular genetics of frontotemporal lobar degeneration

(2017) Innocenzo Rainero   FUNCTIONAL NEUROLOGY

Genetic mutations in RNA-binding proteins and their roles in ALS

(2017) Katannya Kapeli et al.   HUMAN GENETICS

Intrinsically disordered sequences enable modulation of protein phase separation through distributed tyrosine motifs

(2017) Yuan Lin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Amyotrophic lateral sclerosis

(2017) Michael A van Es et al.   LANCET

Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice

(2017) Lindsay A. Becker et al.   NATURE

RNA phase transitions in repeat expansion disorders

(2017) Ankur Jain et al.   NATURE

Phase behaviour of disordered proteins underlying low density and high permeability of liquid organelles

(2017) Ming-Tzo Wei et al.   Nature Chemistry

Biomolecular condensates: organizers of cellular biochemistry

(2017) Salman F. Banani et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Frontotemporal Dementia

(2017) Nicholas T. Olney et al.   NEUROLOGIC CLINICS

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

(2017) Ian R. Mackenzie et al.   NEURON

Lost in Transportation: Nucleocytoplasmic Transport Defects in ALS and Other Neurodegenerative Diseases

(2017) Hong Joo Kim et al.   NEURON

ALS and frontotemporal dementia belong to a common disease spectrum

(2017) P. Couratier et al.   REVUE NEUROLOGIQUE

Genetics of amyotrophic lateral sclerosis

(2017) P. Corcia et al.   REVUE NEUROLOGIQUE

ATP as a biological hydrotrope

(2017) Avinash Patel et al.   SCIENCE

Liquid phase condensation in cell physiology and disease

(2017) Yongdae Shin et al.   SCIENCE

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

(2017) Bradley N. Smith et al.   Science Translational Medicine

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

(2017) Tariq Afroz et al.   Nature Communications

Genetics of Amyotrophic Lateral Sclerosis

(2017) Mehdi Ghasemi et al.   Cold Spring Harbor Perspectives in Medicine

Disease Mechanisms of C9ORF72 Repeat Expansions

(2017) Tania F. Gendron et al.   Cold Spring Harbor Perspectives in Medicine

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

(2017) Tyler S Harmon et al.   eLife

Clinical and neuropathological features of ALS/FTD with TIA1 mutations

(2017) Veronica Hirsch-Reinshagen et al.   Acta Neuropathologica Communications

Monomethylated and unmethylated FUS exhibit increased binding to Transportin and distinguish FTLD-FUS from ALS-FUS

(2016) Marc Suárez-Calvet et al.   ACTA NEUROPATHOLOGICA

Mechanisms and Consequences of Macromolecular Phase Separation

(2016) Louis-Philippe Bergeron-Sandoval et al.   CELL

Dynamic Axonal Translation in Developing and Mature Visual Circuits

(2016) Toshiaki Shigeoka et al.   CELL

Phase Transition in Postsynaptic Densities Underlies Formation of Synaptic Complexes and Synaptic Plasticity

(2016) Menglong Zeng et al.   CELL

Disease Mechanisms in ALS: Misfolded SOD1 Transferred Through Exosome-Dependent and Exosome-Independent Pathways

(2016) Judith M. Silverman et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies

(2016) Ian R. A. Mackenzie et al.   JOURNAL OF NEUROCHEMISTRY

Genetics of FTLD: overview and what else we can expect from genetic studies

(2016) Cyril Pottier et al.   JOURNAL OF NEUROCHEMISTRY

Physiological functions and pathobiology of TDP-43 and FUS/TLS proteins

(2016) Antonia Ratti et al.   JOURNAL OF NEUROCHEMISTRY

Altered mRNP granule dynamics in FTLD pathogenesis

(2016) Hilary A. Bowden et al.   JOURNAL OF NEUROCHEMISTRY

Sequence Determinants of Intracellular Phase Separation by Complex Coacervation of a Disordered Protein

(2016) Chi W. Pak et al.   MOLECULAR CELL

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

Principles and Properties of Stress Granules

(2016) David S.W. Protter et al.   TRENDS IN CELL BIOLOGY

In Vivo Formation of Vacuolated Multi-phase Compartments Lacking Membranes

(2016) Hermann Broder Schmidt et al.   Cell Reports

Biochemical Properties and Biological Functions of FET Proteins

(2015) Jacob C. Schwartz et al.   Annual Review of Biochemistry

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

(2015) Amandine Molliex et al.   CELL

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

(2015) Avinash Patel et al.   CELL

The function of RNA-binding proteins at the synapse: implications for neurodegeneration

(2015) Chantelle F. Sephton et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

ALS mutations in TLS/FUS disrupt target gene expression

(2015) Tristan H. Coady et al.   GENES & DEVELOPMENT

Emerging mechanisms of molecular pathology in ALS

(2015) Owen M. Peters et al.   JOURNAL OF CLINICAL INVESTIGATION

Frontotemporal dementia

(2015) Jee Bang et al.   LANCET

Polymer physics of intracellular phase transitions

(2015) Clifford P. Brangwynne et al.   Nature Physics

Neuropathology of Amyotrophic Lateral Sclerosis and Its Variants

(2015) Shahram Saberi et al.   NEUROLOGIC CLINICS

ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function

(2015) Tetsuro Murakami et al.   NEURON

Review: An update on clinical, genetic and pathological aspects of frontotemporal lobar degenerations

(2015) Tammaryn Lashley et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Frontotemporal dementia: a bridge between dementia and neuromuscular disease

(2014) Adeline S.L. Ng et al.   Annals of the New York Academy of Sciences

FUS is Phosphorylated by DNA-PK and Accumulates in the Cytoplasm after DNA Damage

(2014) Q. Deng et al.   JOURNAL OF NEUROSCIENCE

ALS-Linked Mutations Enlarge TDP-43-Enriched Neuronal RNA Granules in the Dendritic Arbor

(2014) L. Liu-Yesucevitz et al.   JOURNAL OF NEUROSCIENCE

The phenotypic variability of amyotrophic lateral sclerosis

(2014) Bart Swinnen et al.   Nature Reviews Neurology

Axonal Transport of TDP-43 mRNA Granules Is Impaired by ALS-Causing Mutations

(2014) Nael H. Alami et al.   NEURON

Neuronal-Specific Overexpression of a Mutant Valosin-Containing Protein Associated with IBMPFD Promotes Aberrant Ubiquitin and TDP-43 Accumulation and Cognitive Dysfunction in Transgenic Mice

(2013) Carlos J. Rodriguez-Ortiz et al.   AMERICAN JOURNAL OF PATHOLOGY

RNA binding mediates neurotoxicity in the transgenic Drosophila model of TDP-43 proteinopathy

(2013) Ryoko Ihara et al.   HUMAN MOLECULAR GENETICS

Fused in sarcoma (FUS): An oncogene goes awry in neurodegeneration

(2013) Dorothee Dormann et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

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

(2013) Hong Joo Kim et al.   NATURE

The epidemiology of ALS: a conspiracy of genes, environment and time

(2013) Ammar Al-Chalabi et al.   Nature Reviews Neurology

The Central Dogma Decentralized: New Perspectives on RNA Function and Local Translation in Neurons

(2013) Christine E. Holt et al.   NEURON

RNA Seeds Higher-Order Assembly of FUS Protein

(2013) Jacob C. Schwartz et al.   Cell Reports

Transportin 1 accumulates specifically with FET proteins but no other transportin cargos in FTLD-FUS and is absent in FUS inclusions in ALS with FUS mutations

(2012) Manuela Neumann et al.   ACTA NEUROPATHOLOGICA

Cell-free Formation of RNA Granules: Low Complexity Sequence Domains Form Dynamic Fibers within Hydrogels

(2012) Masato Kato et al.   CELL

Cell-free Formation of RNA Granules: Bound RNAs Identify Features and Components of Cellular Assemblies

(2012) Tina W. Han et al.   CELL

Frontotemporal Lobar Degeneration

(2012) Rachel E. Seltman et al.   CNS DRUGS

Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS

(2012) Dorothee Dormann et al.   EMBO JOURNAL

p62/sequestosome 1 binds to TDP-43 in brains with frontotemporal lobar degeneration with TDP-43 inclusions

(2012) Kunikazu Tanji et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Advances in understanding the molecular basis of frontotemporal dementia

(2012) Rosa Rademakers et al.   Nature Reviews Neurology

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2012) E. Rubino et al.   NEUROLOGY

Transportin 1 colocalization with Fused in Sarcoma (FUS) inclusions is not characteristic for amyotrophic lateral sclerosis-FUS confirming disrupted nuclear import of mutant FUS and distinguishing it from frontotemporal lobar degeneration with FUS inclusi

(2012) C. Troakes et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration

(2011) Edward B. Lee et al.   NATURE REVIEWS NEUROSCIENCE

Frontotemporal Lobar Degeneration

(2010) Gil D. Rabinovici et al.   CNS DRUGS

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

(2010) Dorothee Dormann et al.   EMBO JOURNAL

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

(2010) C. Lagier-Tourenne et al.   HUMAN MOLECULAR GENETICS

Regulation of TDP-43 aggregation by phosphorylation andp62/SQSTM1

(2010) Owen A. Brady et al.   JOURNAL OF NEUROCHEMISTRY

TDP-43 Mediates Degeneration in a Novel Drosophila Model of Disease Caused by Mutations in VCP/p97

(2010) G. P. Ritson et al.   JOURNAL OF NEUROSCIENCE

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

TDP-43-Mediated Neuron Loss In Vivo Requires RNA-Binding Activity

(2010) Aaron Voigt et al.   PLoS One

A new subtype of frontotemporal lobar degeneration with FUS pathology

(2009) M. Neumann et al.   BRAIN

VCPMutations Causing Frontotemporal Lobar Degeneration Disrupt Localization of TDP-43 and Induce Cell Death

(2009) Michael A. Gitcho et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Subcellular mRNA Localization in Animal Cells and Why It Matters

(2009) C. E. Holt et al.   SCIENCE

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

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE