Phase Separation as a Missing Mechanism for Interpretation of Disease Mutations

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

(2020) F. Kyle Satterstrom et al.   CELL

Autism-Misregulated eIF4G Microexons Control Synaptic Translation and Higher Order Cognitive Functions

(2020) Thomas Gonatopoulos-Pournatzis et al.   MOLECULAR CELL

hnRNPDL Phase Separation Is Regulated by Alternative Splicing and Disease-Causing Mutations Accelerate Its Aggregation

(2020) Cristina Batlle et al.   Cell Reports

Competing Protein-RNA Interaction Networks Control Multiphase Intracellular Organization

(2020) David W. Sanders et al.   CELL

Unblending of Transcriptional Condensates in Human Repeat Expansion Disease

(2020) Shaon Basu et al.   CELL

FXR1 splicing is important for muscle development and biomolecular condensates in muscle cells

(2020) Jean A. Smith et al.   JOURNAL OF CELL BIOLOGY

Composition-dependent thermodynamics of intracellular phase separation

(2020) Joshua A. Riback et al.   NATURE

Roles and mechanisms of alternative splicing in cancer — implications for care

(2020) Sophie C. Bonnal et al.   Nature Reviews Clinical Oncology

A framework for an evidence-based gene list relevant to autism spectrum disorder

(2020) Christian P. Schaaf et al.   NATURE REVIEWS GENETICS

Roles of the BRD4 short isoform in phase separation and active gene transcription

(2020) Xinye Han et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Phosphoregulated FMRP phase separation models activity-dependent translation through bidirectional control of mRNA granule formation

(2019) Brian Tsang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Phase separation of ligand-activated enhancers licenses cooperative chromosomal enhancer assembly

(2019) Sreejith J. Nair et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Wnt/Beta-Catenin Signaling Regulation and a Role for Biomolecular Condensates

(2019) Kristina N. Schaefer et al.   DEVELOPMENTAL CELL

Single-cell genomics identifies cell type–specific molecular changes in autism

(2019) Dmitry Velmeshev et al.   SCIENCE

Phase separation of Polycomb-repressive complex 1 is governed by a charged disordered region of CBX2

(2019) Aaron J. Plys et al.   GENES & DEVELOPMENT

Foetal oestrogens and autism

(2019) Simon Baron-Cohen et al.   MOLECULAR PSYCHIATRY

Mediator complex interaction partners organize the transcriptional network that defines neural stem cells

(2019) Marti Quevedo et al.   Nature Communications

Proteome-wide signatures of function in highly diverged intrinsically disordered regions

(2019) Taraneh Zarin et al.   eLife

Liquid–Liquid Phase Separation in Disease

(2019) Simon Alberti et al.   Annual Review of Genetics

Chromatin topology, condensates and gene regulation: shifting paradigms or just a phase?

(2019) Mustafa Mir et al.   DEVELOPMENT

Histone Modifications Regulate Chromatin Compartmentalization by Contributing to a Phase Separation Mechanism

(2019) Liang Wang et al.   MOLECULAR CELL

Mediator Condensates Localize Signaling Factors to Key Cell Identity Genes

(2019) Alicia V. Zamudio et al.   MOLECULAR CELL

Pol II phosphorylation regulates a switch between transcriptional and splicing condensates

(2019) Yang Eric Guo et al.   NATURE

A framework for the investigation of rare genetic disorders in neuropsychiatry

(2019) Stephan J. Sanders et al.   NATURE MEDICINE

Phospho-dependent phase separation of FMRP and CAPRIN1 recapitulates regulation of translation and deadenylation

(2019) Tae Hun Kim et al.   SCIENCE

Organization of Chromatin by Intrinsic and Regulated Phase Separation

(2019) Bryan A. Gibson et al.   CELL

First-generation predictors of biological protein phase separation

(2019) Robert M Vernon et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Evaluating phase separation in live cells: diagnosis, caveats, and functional consequences

(2019) David T. McSwiggen et al.   GENES & DEVELOPMENT

Formation of biological condensates via phase separation: Characteristics, analytical methods, and physiological implications

(2019) Zhe Feng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Loss of Dynamic RNA Interaction and Aberrant Phase Separation Induced by Two Distinct Types of ALS/FTD-Linked FUS Mutations

(2019) Amirhossein Ghanbari Niaki et al.   MOLECULAR CELL

HP1 reshapes nucleosome core to promote phase separation of heterochromatin

(2019) S. Sanulli et al.   NATURE

Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities

(2019) Noriko Miyake et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Probing and engineering liquid-phase organelles

(2019) Dan Bracha et al.   NATURE BIOTECHNOLOGY

Abnormal mTOR Activation in Autism

(2018) Kellen D. Winden et al.   Annual Review of Neuroscience

Phase Separation of FUS Is Suppressed by Its Nuclear Import Receptor and Arginine Methylation

(2018) Mario Hofweber et al.   CELL

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

(2018) Jie Wang et al.   CELL

Long genes linked to autism spectrum disorders harbor broad enhancer-like chromatin domains

(2018) Ying-Tao Zhao et al.   GENOME RESEARCH

A User’s Guide for Phase Separation Assays with Purified Proteins

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

RGG/RG Motif Regions in RNA Binding and Phase Separation

(2018) P. Andrew Chong et al.   JOURNAL OF MOLECULAR BIOLOGY

A Liquid to Solid Phase Transition Underlying Pathological Huntingtin Exon1 Aggregation

(2018) Thomas R. Peskett et al.   MOLECULAR CELL

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

Coactivator condensation at super-enhancers links phase separation and gene control

(2018) Benjamin R. Sabari et al.   SCIENCE

Mediator and RNA polymerase II clusters associate in transcription-dependent condensates

(2018) Won-Ki Cho et al.   SCIENCE

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

(2018) Robert McCoy Vernon et al.   eLife

Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons

(2018) Matthias Jung et al.   Molecular Autism

Reconstituted Postsynaptic Density as a Molecular Platform for Understanding Synapse Formation and Plasticity

(2018) Menglong Zeng et al.   CELL

The molecular language of membraneless organelles

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

Methods for Physical Characterization of Phase-Separated Bodies and Membrane-less Organelles

(2018) Diana M. Mitrea et al.   JOURNAL OF MOLECULAR BIOLOGY

Phase-separation mechanism for C-terminal hyperphosphorylation of RNA polymerase II

(2018) Huasong Lu et al.   NATURE

Autism-like phenotype and risk gene mRNA deadenylation by CPEB4 mis-splicing

(2018) Alberto Parras et al.   NATURE

RNA polymerase II clustering through carboxy-terminal domain phase separation

(2018) Marc Boehning et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Transcription Factors Activate Genes through the Phase-Separation Capacity of Their Activation Domains

(2018) Ann Boija et al.   CELL

Nuclear condensates of the Polycomb protein chromobox 2 (CBX2) assemble through phase separation

(2018) Roubina Tatavosian et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Chromatin regulatory mechanisms and therapeutic opportunities in cancer

(2018) Alfredo M. Valencia et al.   NATURE CELL BIOLOGY

Widespread RNA editing dysregulation in brains from autistic individuals

(2018) Stephen S. Tran et al.   NATURE NEUROSCIENCE

The chromatin of cancer

(2018) Jussi Taipale   SCIENCE

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder

(2018) Michael J. Gandal et al.   SCIENCE

The Intellectual Disability and Schizophrenia Associated Transcription Factor TCF4 Is Regulated by Neuronal Activity and Protein Kinase A

(2017) Mari Sepp et al.   JOURNAL OF NEUROSCIENCE

Phase separation drives heterochromatin domain formation

(2017) Amy R. Strom et al.   NATURE

Liquid droplet formation by HP1α suggests a role for phase separation in heterochromatin

(2017) Adam G. Larson et al.   NATURE

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

(2017) Madeleine R Geisheker et al.   NATURE NEUROSCIENCE

Autism genetics: opportunities and challenges for clinical translation

(2017) Jacob A. S. Vorstman et al.   NATURE REVIEWS GENETICS

Biomolecular condensates: organizers of cellular biochemistry

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

Amyotrophic lateral sclerosis-linked mutations increase the viscosity of liquid-like TDP-43 RNP granules in neurons

(2017) Pallavi P. Gopal et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Direct observation of structure and dynamics during phase separation of an elastomeric protein

(2017) Sean E. Reichheld et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural and hydrodynamic properties of an intrinsically disordered region of a germ cell-specific protein on phase separation

(2017) Jacob P. Brady et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability

(2017) Marc P Forrest et al.   SCHIZOPHRENIA BULLETIN

Splicing factor hnRNPA2B1 contributes to tumorigenic potential of breast cancer cells through STAT3 and ERK1/2 signaling pathway

(2017) Ying Hu et al.   TUMOR BIOLOGY

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

(2017) Tyler S Harmon et al.   eLife

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

(2016) Menglong Zeng et al.   CELL

Wnt signaling networks in autism spectrum disorder and intellectual disability

(2016) Vickie Kwan et al.   Journal of Neurodevelopmental Disorders

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

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

CHD8 haploinsufficiency results in autistic-like phenotypes in mice

(2016) Yuta Katayama et al.   NATURE

Advancing the understanding of autism disease mechanisms through genetics

(2016) Luis de la Torre-Ubieta et al.   NATURE MEDICINE

Cytoplasmic Rbfox1 Regulates the Expression of Synaptic and Autism-Related Genes

(2016) Ji-Ann Lee et al.   NEURON

Phase separation of signaling molecules promotes T cell receptor signal transduction

(2016) Xiaolei Su et al.   SCIENCE

Autism and Cancer Share Risk Genes, Pathways, and Drug Targets

(2016) Jacqueline N. Crawley et al.   TRENDS IN GENETICS

A systematic variant annotation approach for ranking genes associated with autism spectrum disorders

(2016) Eric Larsen et al.   Molecular Autism

Stress granules, P-bodies and cancer

(2015) Paul Anderson et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

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

Chromatin signatures of cancer

(2015) Marc A. Morgan et al.   GENES & DEVELOPMENT

RNA Controls PolyQ Protein Phase Transitions

(2015) Huaiying Zhang et al.   MOLECULAR CELL

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

(2015) Yuan Lin et al.   MOLECULAR CELL

Phase Transition of a Disordered Nuage Protein Generates Environmentally Responsive Membraneless Organelles

(2015) Timothy J. Nott et al.   MOLECULAR CELL

Intrinsically disordered proteins in cellular signalling and regulation

(2015) Peter E. Wright et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders

(2015) Sacha B. Nelson et al.   NEURON

Aberrant RNA splicing in cancer; expression changes and driver mutations of splicing factor genes

(2015) A Sveen et al.   ONCOGENE

Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders

(2015) Samuel Heyes et al.   PROGRESS IN NEUROBIOLOGY

A Highly Conserved Program of Neuronal Microexons Is Misregulated in Autistic Brains

(2014) Manuel Irimia et al.   CELL

Remote Control of Gene Function by Local Translation

(2014) Hosung Jung et al.   CELL

A Million Peptide Motifs for the Molecular Biologist

(2014) Peter Tompa et al.   MOLECULAR CELL

An AUTS2–Polycomb complex activates gene expression in the CNS

(2014) Zhonghua Gao et al.   NATURE

HITS-CLIP and Integrative Modeling Define the Rbfox Splicing-Regulatory Network Linked to Brain Development and Autism

(2014) Sebastien M. Weyn-Vanhentenryck et al.   Cell Reports

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

(2014) Claire S. Leblond et al.   PLoS Genetics

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

(2013) Gea Beunders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alternative splicing of intrinsically disordered regions and rewiring of protein interactions

(2013) Marija Buljan et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Molecular Mechanisms of Disease-Causing Missense Mutations

(2013) Shannon Stefl et al.   JOURNAL OF MOLECULAR BIOLOGY

The complexity of NF-κB signaling in inflammation and cancer

(2013) Bastian Hoesel et al.   Molecular Cancer

Activity-dependent neuronal signalling and autism spectrum disorder

(2013) Daniel H. Ebert et al.   NATURE

Distinct Types of Disorder in the Human Proteome: Functional Implications for Alternative Splicing

(2013) Recep Colak et al.   PLoS Computational Biology

Tissue-Specific Alternative Splicing Remodels Protein-Protein Interaction Networks

(2012) Jonathan D. Ellis et al.   MOLECULAR CELL

MicroRNA and cancer

(2012) Martin D. Jansson et al.   Molecular Oncology

Autism-related deficits via dysregulated eIF4E-dependent translational control

(2012) Christos G. Gkogkas et al.   NATURE

Intrinsically disordered proteins: regulation and disease

(2011) M Madan Babu et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Disease mutations in disordered regions—exception to the rule?

(2011) Vladimir Vacic et al.   Molecular BioSystems

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

Association of MouseDlg4(PSD-95) Gene Deletion and HumanDLG4Gene Variation With Phenotypes Relevant to Autism Spectrum Disorders and Williams' Syndrome

(2010) Michael Feyder et al.   AMERICAN JOURNAL OF PSYCHIATRY

Homeodomain-interacting protein kinase 2 (HIPK2) targets β-catenin for phosphorylation and proteasomal degradation

(2010) Eun-A Kim et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Protein disorder in the human diseasome: unfoldomics of human genetic diseases

(2009) Uros Midic et al.   BMC GENOMICS

Structural Biology of the Tumor Suppressor p53

(2008) Andreas C. Joerger et al.   Annual Review of Biochemistry

Intrinsically Disordered Proteins in Human Diseases: Introducing the D2 Concept

(2008) Vladimir N. Uversky et al.   Annual Review of Biophysics

The Autistic Neuron: Troubled Translation?

(2008) Raymond J. Kelleher et al.   CELL