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

mTOR coordinates protein synthesis, mitochondrial activity and proliferation

(2015) Masahiro Morita et al.   CELL CYCLE

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

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

(2015) M. Fittschen et al.   NEUROGENETICS

Branched-chain amino acid catabolism is a conserved regulator of physiological ageing

(2015) Johannes Mansfeld et al.   Nature Communications

Both Ubiquitin Ligases FBXW8 and PARK2 Are Sequestrated into Insolubility by ATXN2 PolyQ Expansions, but Only FBXW8 Expression Is Dysregulated

(2015) Melanie Vanessa Halbach et al.   PLoS One

Metabolome and Proteome Profiling of Complex I Deficiency Induced by Rotenone

(2014) Ina Gielisch et al.   JOURNAL OF PROTEOME RESEARCH

Accurate Proteome-wide Label-free Quantification by Delayed Normalization and Maximal Peptide Ratio Extraction, Termed MaxLFQ

(2014) Jürgen Cox et al.   MOLECULAR & CELLULAR PROTEOMICS

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

(2014) Moe Yokoshi et al.   MOLECULAR CELL

Branched-chain amino acids in metabolic signalling and insulin resistance

(2014) Christopher J. Lynch et al.   Nature Reviews Endocrinology

Dysregulated expression of lipid storage and membrane dynamics factors in Tia1 knockout mouse nervous tissue

(2014) Melanie Vanessa Heck et al.   NEUROGENETICS

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders

(2014) S. Lattante et al.   NEUROLOGY

NeuroGeM, a knowledgebase of genetic modifiers in neurodegenerative diseases

(2013) Dokyun Na et al.   BMC Medical Genomics

Regional differences in the frequency of the c.985A>G ACADM mutation: findings from a meta-regression of genotyping and screening studies

(2013) J. Leal et al.   CLINICAL GENETICS

Loci influencing blood pressure identified using a cardiovascular gene-centric array

(2013) Santhi K. Ganesh, Vinicius Tragante, Wei Guo, Yiran Guo, Matthew B. Lanktree, Erin N. Smith, Toby Johnson, Berta Almoguera Castillo, John Barnard, Jens Baumert, Yen-Pei Christy Chang, Clara C. Elbers, Martin Farrall, Mary E. Fischer, Nora Franceschini, Tom R. Gaunt, Johannes M.I.H. Gho, Christian Gieger, Yan Gong, Aaron Isaacs, Marcus E. Kleber, Irene Mateo Leach, Caitrin W. McDonough, Matthijs F.L. Meijs, Olle Mellander, Cliona M. Molony, Ilja M. Nolte, Sandosh Padmanabhan, Tom S. Price, Ramakrishnan Rajagopalan, Jonathan Shaffer, Sonia Shah, Haiqing Shen, Nicole Soranzo, Peter J. van der Most, Erik P.A. Van Iperen, Jessic A. Van Setten, Judith M. Vonk, Li Zhang, Amber L. Beitelshees, Gerald S. Berenson, Deepak L. Bhatt, Jolanda M.A. Boer, Eric Boerwinkle, Ben Burkley, Amber Burt, Aravinda Chakravarti, Wei Chen, Rhonda M. Cooper-DeHoff, Sean P. Curtis, Albert Dreisbach, David Duggan, Georg B. Ehret, Richard R. Fabsitz, Myriam Fornage, Ervin Fox, Clement E. Furlong, Ron T. Gansevoort, Marten H. Hofker, G. Kees Hovingh, Susan A. Kirkland, Kandice Kottke-Marchant, Abdullah Kutlar, Andrea Z. LaCroix, Taimour Y. Langaee, Yun R. Li, Honghuang Lin, Kiang Liu, Steffi Maiwald, Rainer Malik, Gurunathan Murugesan, Christopher Newton-Cheh, Jeffery R. O'Connell, N. Charlotte Onland-Moret, Willem H. Ouwehand et al.   HUMAN MOLECULAR GENETICS

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

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

Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation: Clues for the pathogenesis in the human inherited disorder

(2013) A. Hernández-Vázquez et al.   MOLECULAR GENETICS AND METABOLISM

Nutrient regulation of the mTOR Complex 1 signaling pathway

(2013) Sang Gyun Kim et al.   MOLECULES AND CELLS

FMRP and Ataxin-2 function together in long-term olfactory habituation and neuronal translational control

(2013) I. P. Sudhakaran et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7

(2013) Udo Rüb et al.   PROGRESS IN NEUROBIOLOGY

ATAXIN-2 Activates PERIOD Translation to Sustain Circadian Rhythms in Drosophila

(2013) C. Lim et al.   SCIENCE

A Role for Drosophila ATX2 in Activation of PER Translation and Circadian Behavior

(2013) Y. Zhang et al.   SCIENCE

Insights into RNA Biology from an Atlas of Mammalian mRNA-Binding Proteins

(2012) Alfredo Castello et al.   CELL

ETS1 regulates the expression of ATXN2

(2012) Daniel R. Scoles et al.   HUMAN MOLECULAR GENETICS

Cell biology of spinocerebellar ataxia

(2012) Harry T. Orr   JOURNAL OF CELL BIOLOGY

Malonyl-CoA: the regulator of fatty acid synthesis and oxidation

(2012) Daniel W. Foster   JOURNAL OF CLINICAL INVESTIGATION

Transient Sequestration of TORC1 into Stress Granules during Heat Stress

(2012) Terunao Takahara et al.   MOLECULAR CELL

TOR-tured Yeast Find a New Way to Stand the Heat

(2012) J. Ross Buchan et al.   MOLECULAR CELL

The Proteomics Identifications (PRIDE) database and associated tools: status in 2013

(2012) Juan Antonio Vizcaíno et al.   NUCLEIC ACIDS RESEARCH

STRING v9.1: protein-protein interaction networks, with increased coverage and integration

(2012) Andrea Franceschini et al.   NUCLEIC ACIDS RESEARCH

Genetic Signatures of Exceptional Longevity in Humans

(2012) Paola Sebastiani et al.   PLoS One

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

(2012) Suna Lahut 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

Validation of Plasma Branched Chain Amino Acids as Biomarkers in Huntington Disease

(2011) Fanny Mochel et al.   ARCHIVES OF NEUROLOGY

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

Daily variation of serum acylcarnitines and amino acids

(2011) Dana K. Thompson et al.   Metabolomics

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

(2011) Georg B. Ehret et al.   NATURE

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

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

(2010) Andrew C. Elden et al.   NATURE

Genetic Signatures of Exceptional Longevity in Humans

(2010) P. Sebastiani et al.   SCIENCE

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

(2009) Daniel F Gudbjartsson et al.   NATURE GENETICS

Genome-wide association study identifies eight loci associated with blood pressure

(2009) Christopher Newton-Cheh et al.   NATURE GENETICS

Genome-wide association study of blood pressure and hypertension

(2009) Daniel Levy et al.   NATURE GENETICS

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

(2009) Jeffrey C Barrett et al.   NATURE GENETICS

Genetic Variance in the Spinocerebellar Ataxia Type 2 (ATXN2) Gene in Children with Severe Early Onset Obesity

(2009) Karla P. Figueroa et al.   PLoS One

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

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

(2008) Janghoo Lim et al.   NATURE

Shared and Distinct Genetic Variants in Type 1 Diabetes and Celiac Disease

(2008) Deborah J. Smyth et al.   NEW ENGLAND JOURNAL OF MEDICINE

Androgen Receptor Function in Motor Neuron Survival and Degeneration

(2008) Gregory A. Cary et al.   Physical Medicine and Rehabilitation Clinics of North America