Mid-Gestation lethality of Atxn2l-Ablated Mice

The RNA-Binding Protein ATXN2 is Expressed during Megakaryopoiesis and May Control Timing of Gene Expression

(2020) Marten Hansen et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Sarcoidosis and the mTOR, Rac1, and Autophagy Triad

(2020) Yves Pacheco et al.   TRENDS IN IMMUNOLOGY

Role of cancer stem cells in the development of giant cell tumor of bone

(2020) Abdul Rouf War et al.   Cancer Cell International

Testosterone Levels Are Decreased and Associated with Disease Duration in Male Spinocerebellar Ataxia Type 2 Patients

(2020) Luis E. Almaguer-Mederos et al.   CEREBELLUM

Human DENND1A.V2 Drives Cyp17a1 Expression and Androgen Production in Mouse Ovaries and Adrenals

(2020) Maria E. Teves et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Emerging Roles for 3′ UTRs in Neurons

(2020) Bongmin Bae et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Connecting RNA-Modifying Similarities of TDP-43, FUS, and SOD1 with MicroRNA Dysregulation Amidst A Renewed Network Perspective of Amyotrophic Lateral Sclerosis Proteinopathy

(2020) Jade Pham et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

ATXN2L upregulated by epidermal growth factor promotes gastric cancer cell invasiveness and oxaliplatin resistance

(2019) Li Lin et al.   Cell Death & Disease

Generation of an Atxn2-CAG100 knock-in mouse reveals N-acetylaspartate production deficit due to early Nat8l dysregulation

(2019) Nesli-Ece Sen et al.   NEUROBIOLOGY OF DISEASE

Ubiquitylome profiling of Parkin-null brain reveals dysregulation of calcium homeostasis factors ATP1A2, Hippocalcin and GNA11, reflected by altered firing of noradrenergic neurons

(2019) J. Key et al.   NEUROBIOLOGY OF DISEASE

Global Proteome of LonP1+/− Mouse Embryonal Fibroblasts Reveals Impact on Respiratory Chain, but No Interdependence between Eral1 and Mitoribosomes

(2019) Jana Key et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

In Human and Mouse Spino-Cerebellar Tissue, Ataxin-2 Expansion Affects Ceramide-Sphingomyelin Metabolism

(2019) Sen et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Characterization and functional roles of paternal RNAs in 2–4 cell bovine embryos

(2019) Nicole Gross et al.   Scientific Reports

DEAD-Box Protein RNA-Helicase DDX6 Regulates the Expression of HER2 and FGFR2 at the Post-Transcriptional Step in Gastric Cancer Cells

(2018) Toshihiro Tajirika et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

N-Terminomics TAILS Identifies Host Cell Substrates of Poliovirus and Coxsackievirus B3 3C Proteinases That Modulate Virus Infection

(2018) Julienne M. Jagdeo et al.   JOURNAL OF VIROLOGY

Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals

(2018) Jonathan R. I. Coleman et al.   MOLECULAR PSYCHIATRY

A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence

(2018) W. D. Hill et al.   MOLECULAR PSYCHIATRY

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases

(2018) Masahiro Kanai et al.   NATURE GENETICS

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

(2018) James J. Lee et al.   NATURE GENETICS

Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank

(2018) Emmi Tikkanen et al.   Scientific Reports

Placentation defects are highly prevalent in embryonic lethal mouse mutants

(2018) Vicente Perez-Garcia et al.   NATURE

Progression of pathology in PINK1-deficient mouse brain from splicing via ubiquitination, ER stress, and mitophagy changes to neuroinflammation

(2017) Sylvia Torres-Odio et al.   Journal of Neuroinflammation

LSM12 and ME31B/DDX6 Define Distinct Modes of Posttranscriptional Regulation by ATAXIN-2 Protein Complex in Drosophila Circadian Pacemaker Neurons

(2017) Jongbo Lee et al.   MOLECULAR CELL

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

(2017) Lindsay A. Becker et al.   NATURE

Antisense oligonucleotide therapy for spinocerebellar ataxia type 2

(2017) Daniel R. Scoles et al.   NATURE

Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence

(2017) Suzanne Sniekers et al.   NATURE GENETICS

Efficient Prevention of Neurodegenerative Diseases by Depletion of Starvation Response Factor Ataxin-2

(2017) Georg Auburger et al.   TRENDS IN NEUROSCIENCES

Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets

(2017) Max Lam et al.   Cell Reports

Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults

(2017) Mariaelisa Graff et al.   PLoS Genetics

Genetic sex determination of mice by simplex PCR

(2017) Simon James Tunster   Biology of Sex Differences

Mammalian ataxin-2 modulates translation control at the pre-initiation complex via PI3K/mTOR and is induced by starvation

(2016) Isabel Lastres-Becker et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Quantitative Global Proteomics of Yeast PBP1 Deletion Mutants and Their Stress Responses Identifies Glucose Metabolism, Mitochondrial, and Stress Granule Changes

(2016) Gunnar Seidel et al.   JOURNAL OF PROTEOME RESEARCH

Ataxin-2 (Atxn2)-Knock-Out Mice Show Branched Chain Amino Acids and Fatty Acids Pathway Alterations

(2016) David Meierhofer et al.   MOLECULAR & CELLULAR PROTEOMICS

Genome-wide association study identifies 74 loci associated with educational attainment

(2016) Aysu Okbay et al.   NATURE

Search for SCA2 blood RNA biomarkers highlights Ataxin-2 as strong modifier of the mitochondrial factor PINK1 levels

(2016) Nesli Ece Sen et al.   NEUROBIOLOGY OF DISEASE

Cell size and fat content of dietary-restrictedCaenorhabditis elegansare regulated by ATX-2, an mTOR repressor

(2016) Daniel Z. Bar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The BioPlex Network: A Systematic Exploration of the Human Interactome

(2015) Edward L. Huttlin et al.   CELL

PRMT1-mediated arginine methylation controls ATXN2L localization

(2015) Christian Kaehler et al.   EXPERIMENTAL CELL RESEARCH

eMouseAtlas informatics: embryo atlas and gene expression database

(2015) Chris Armit et al.   MAMMALIAN GENOME

PAS kinase is activated by direct SNF1-dependent phosphorylation and mediates inhibition of TORC1 through the phosphorylation and activation of Pbp1

(2015) Desiree DeMille et al.   MOLECULAR BIOLOGY OF THE CELL

A cytosolic network suppressing mitochondria-mediated proteostatic stress and cell death

(2015) Xiaowen Wang et al.   NATURE

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

(2015) Yun R Li et al.   NATURE MEDICINE

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

(2015) Mercedes Prudencio et al.   NATURE NEUROSCIENCE

Genetic ablation of ataxin-2 increases several global translation factors in their transcript abundance but decreases translation rate

(2015) M. Fittschen et al.   NEUROGENETICS

A Cholesterol-Dependent Endocytic Mechanism Generates Midbody Tubules During Cytokinesis

(2015) Emma Kettle et al.   TRAFFIC

Multiple Poliovirus Proteins Repress Cytoplasmic RNA Granules

(2015) Jonathan Dougherty et al.   Viruses-Basel

Dividing Cells Regulate Their Lipid Composition and Localization

(2014) G. Ekin Atilla-Gokcumen et al.   CELL

Hypercaloric enteral nutrition in patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled phase 2 trial

(2014) Anne-Marie Wills et al.   LANCET

Direct Binding of Ataxin-2 to Distinct Elements in 3′ UTRs Promotes mRNA Stability and Protein Expression

(2014) Moe Yokoshi et al.   MOLECULAR CELL

Early detection and staging of spontaneous embryo resorption by ultrasound biomicroscopy in murine pregnancy

(2014) Luis E Flores et al.   Reproductive Biology and Endocrinology

Bloomsbury report on mouse embryo phenotyping: recommendations from the IMPC workshop on embryonic lethal screening

(2013) D. Adams et al.   Disease Models & Mechanisms

Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors

(2013) S. Gispert et al.   HUMAN MOLECULAR GENETICS

Loss of Vps54 Function Leads to Vesicle Traffic Impairment, Protein Mis-Sorting and Embryonic Lethality

(2013) Páll Karlsson et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Ataxin-2 Modulates the Levels of Grb2 and Src but Not Ras Signaling

(2013) Jessica Drost et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

GWAS of 126,559 Individuals Identifies Genetic Variants Associated with Educational Attainment

(2013) C. A. Rietveld et al.   SCIENCE

High-caloric food supplements in the treatment of amyotrophic lateral sclerosis: A prospective interventional study

(2013) Johannes Dorst et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

The interaction between megalin and ClC-5 is scaffolded by the Na+–H+ exchanger regulatory factor 2 (NHERF2) in proximal tubule cells

(2012) D.H. Hryciw et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Transient Sequestration of TORC1 into Stress Granules during Heat Stress

(2012) Terunao Takahara et al.   MOLECULAR CELL

ATXN2 and Its Neighbouring Gene SH2B3 Are Associated with Increased ALS Risk in the Turkish Population

(2012) Suna Lahut et al.   PLoS One

Ataxin-2-Like Is a Regulator of Stress Granules and Processing Bodies

(2012) Christian Kaehler et al.   PLoS One

ATXN2-CAG42 Sequesters PABPC1 into Insolubility and Induces FBXW8 in Cerebellum of Old Ataxic Knock-In Mice

(2012) Ewa Damrath et al.   PLoS Genetics

Multinucleated giant cells from fibroblast cultures

(2011) Dolly J. Holt et al.   BIOMATERIALS

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

(2011) T. Lee et al.   HUMAN MOLECULAR GENETICS

Ataxin-2 repeat-length variation and neurodegeneration

(2011) O. A. Ross et al.   HUMAN MOLECULAR GENETICS

Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice

(2011) David M. Feliciano et al.   JOURNAL OF CLINICAL INVESTIGATION

The modulation of Amyotrophic Lateral Sclerosis risk by Ataxin-2 intermediate polyglutamine expansions is a specific effect

(2011) Suzana Gispert et al.   NEUROBIOLOGY OF DISEASE

Early Embryonic Lethality in Genetically Engineered Mice: Diagnosis and Phenotypic Analysis

(2011) V. E. Papaioannou et al.   VETERINARY PATHOLOGY

The Scaffold Protein NHERF2 Determines the Coupling of P2Y1 Nucleotide and mGluR5 Glutamate Receptor to Different Ion Channels in Neurons

(2010) A. K. Filippov 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

Generation and validation of mice carrying a conditional allele of the epidermal growth factor receptor

(2009) Tang-Cheng Lee et al.   GENESIS

Placental and Embryonic Growth Restriction in Mice With Reduced Function Epidermal Growth Factor Receptor Alleles

(2009) J. Dackor et al.   GENETICS

Common variants at five new loci associated with early-onset inflammatory bowel disease

(2009) Marcin Imielinski et al.   NATURE GENETICS

Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking

(2008) David Nonis et al.   CELLULAR SIGNALLING

Ataxin-2 associates with rough endoplasmic reticulum

(2008) Simone van de Loo et al.   EXPERIMENTAL NEUROLOGY

Insulin receptor and lipid metabolism pathology in ataxin-2 knock-out mice

(2008) Isabel Lastres-Becker et al.   HUMAN MOLECULAR GENETICS