The role of protein complexes in human genetic disease

Tubulin mRNA stability is sensitive to change in microtubule dynamics caused by multiple physiological and toxic cues

(2019) Ivana Gasic et al.   PLOS BIOLOGY

TUBB1 variants and human platelet traits

(2018) Kate Burley et al.   PLATELETS

Imbalanced Expression of Tau and Tubulin Induces Neuronal Dysfunction in C. elegans Models of Tauopathy

(2018) Tomohiro Miyasaka et al.   Frontiers in Neuroscience

TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

(2018) Athanasia Stoupa et al.   EMBO Molecular Medicine

The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility

(2018) Biaobang Chen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes

(2017) Julian Curiel et al.   HUMAN MOLECULAR GENETICS

Disease-associated mutations in human BICD2 hyperactivate motility of dynein–dynactin

(2017) Walter Huynh et al.   JOURNAL OF CELL BIOLOGY

Dosage sensitivity is a major determinant of human copy number variant pathogenicity

(2017) Alan M. Rice et al.   Nature Communications

Post-Translational Dosage Compensation Buffers Genetic Perturbations to Stoichiometry of Protein Complexes

(2017) Koji Ishikawa et al.   PLoS Genetics

Widespread Post-transcriptional Attenuation of Genomic Copy-Number Variation in Cancer

(2017) Emanuel Gonçalves et al.   Cell Systems

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

(2016) Meriel McEntagart et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Kinetic Analysis of Protein Stability Reveals Age-Dependent Degradation

(2016) Erik McShane et al.   CELL

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Identifying Allosteric Hotspots with Dynamics: Application to Inter- and Intra-species Conservation

(2016) Declan Clarke et al.   STRUCTURE

Structural insights into the interaction and disease mechanism of neurodegenerative disease-associated optineurin and TBK1 proteins

(2016) Faxiang Li et al.   Nature Communications

Structure, Dynamics, Assembly, and Evolution of Protein Complexes

(2015) Joseph A. Marsh et al.   Annual Review of Biochemistry

Models of buffering of dosage imbalances in protein complexes

(2015) Reiner A. Veitia et al.   Biology Direct

Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders

(2015) Nidhi Sahni et al.   CELL

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

(2015) Avinash Patel et al.   CELL

Phenotypic Variation in Aicardi–Goutières Syndrome Explained by Cell-Specific IFN-Stimulated Gene Response and Cytokine Release

(2015) Eloy Cuadrado et al.   JOURNAL OF IMMUNOLOGY

Protein Destabilization as a Common Factor in Diverse Inherited Disorders

(2015) Rachel L. Redler et al.   JOURNAL OF MOLECULAR EVOLUTION

Quantitative nature of overexpression experiments

(2015) Hisao Moriya   MOLECULAR BIOLOGY OF THE CELL

Protein degradation corrects for imbalanced subunit stoichiometry in OST complex assembly

(2015) Susanne Mueller et al.   MOLECULAR BIOLOGY OF THE CELL

Insights into Disease-Associated Mutations in the Human Proteome through Protein Structural Analysis

(2015) Mu Gao et al.   STRUCTURE

How cryo-EM is revolutionizing structural biology

(2015) Xiao-chen Bai et al.   TRENDS IN BIOCHEMICAL SCIENCES

Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior

(2015) Yaning Wu et al.   PLoS Genetics

Cornelia de Lange syndrome

(2014) M.I. Boyle et al.   CLINICAL GENETICS

Human CFEOM1 Mutations Attenuate KIF21A Autoinhibition and Cause Oculomotor Axon Stalling

(2014) Long Cheng et al.   NEURON

Quantitative proteomic analysis reveals posttranslational responses to aneuploidy in yeast

(2014) Noah Dephoure et al.   eLife

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

(2013) Cas Simons et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

(2013) Emily C. Oates et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance

(2013) Kristien Peeters et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

(2013) Kornelia Neveling et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bicaudal-D uses a parallel, homodimeric coiled coil with heterotypic registry to coordinate recruitment of cargos to dynein

(2013) Y. Liu et al.   GENES & DEVELOPMENT

The Effects of Non-Synonymous Single Nucleotide Polymorphisms (nsSNPs) on Protein–Protein Interactions

(2013) Christopher M. Yates et al.   JOURNAL OF MOLECULAR BIOLOGY

The emergence of protein complexes: quaternary structure, dynamics and allostery

(2012) Tina Perica et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

The Ancient and Evolving Roles of Cohesin in Gene Expression and DNA Repair

(2012) Dale Dorsett et al.   CURRENT BIOLOGY

Identification of dosage-sensitive genes in Saccharomyces cerevisiae using the genetic tug-of-war method

(2012) K. Makanae et al.   GENOME RESEARCH

Three-dimensional reconstruction of protein networks provides insight into human genetic disease

(2012) Xiujuan Wang et al.   NATURE BIOTECHNOLOGY

Interactome Networks and Human Disease

(2011) Marc Vidal et al.   CELL

Protein-protein interaction sites are hot spots for disease-associated nonsynonymous SNPs

(2011) Alessia David et al.   HUMAN MUTATION

Screening of OPTN in French familial amyotrophic lateral sclerosis

(2011) Stéphanie Millecamps et al.   NEUROBIOLOGY OF AGING

Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

(2010) Max A. Tischfield et al.   CELL

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

(2010) Ravinesh A. Kumar et al.   HUMAN MOLECULAR GENETICS

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Dosage Sensitivity Shapes the Evolution of Copy-Number Varied Regions

(2010) Benjamin Schuster-Böckler et al.   PLoS One

Ohnologs in the human genome are dosage balanced and frequently associated with disease

(2010) T. Makino et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Pathogenesis of Hyper IgE Syndrome

(2009) Jennifer Heimall et al.   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection

(2009) Yanick J Crow et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A network medicine approach to human disease

(2009) Andreas Zanzoni et al.   FEBS LETTERS

Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells

(2009) Jinglan Liu et al.   PLOS BIOLOGY

Multiple Organ System Defects and Transcriptional Dysregulation in the Nipbl+/− Mouse, a Model of Cornelia de Lange Syndrome

(2009) Shimako Kawauchi et al.   PLoS Genetics

Mutation of the  1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly

(2008) S. Kunishima et al.   BLOOD

A simple principle concerning the robustness of protein complex activity to changes in gene expression

(2008) Jennifer I Semple et al.   BMC Systems Biology

The cohesin complex and its roles in chromosome biology

(2008) J.-M. Peters et al.   GENES & DEVELOPMENT

Stoichiometric imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling in pulmonary arterial hypertension

(2008) M. Talat Nasim et al.   HUMAN MOLECULAR GENETICS

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

(2008) Ellen D. Renner et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Protein interactions in human genetic diseases

(2008) Benjamin Schuster-Böckler et al.   GENOME BIOLOGY