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

Proteomics of the corpus callosum to identify novel factors involved in hypomyelinated Niemann-Pick Type C disease mice

(2019) Fan Yang et al.   Molecular Brain

Yeast Ataxin-2 Forms an Intracellular Condensate Required for the Inhibition of TORC1 Signaling during Respiratory Growth

(2019) Yu-San Yang et al.   CELL

Redox State Controls Phase Separation of the Yeast Ataxin-2 Protein via Reversible Oxidation of Its Methionine-Rich Low-Complexity Domain

(2019) Masato Kato et al.   CELL

Tau tubulin kinases in proteinopathy

(2019) Laura M. Taylor et al.   FEBS Journal

Membrane lipids and their degradation compounds control GM2 catabolism at intralysosomal luminal vesicles

(2019) Susi Anheuser et al.   JOURNAL OF LIPID RESEARCH

A model of hereditary sensory and autonomic neuropathy type 1 reveals a role of glycosphingolipids in neuronal polarity

(2019) Mengqiao Cui et al.   JOURNAL OF NEUROSCIENCE

Ganglioside GM2 catabolism is inhibited by storage compounds of mucopolysaccharidoses and by cationic amphiphilic drugs

(2019) Susi Anheuser et al.   MOLECULAR GENETICS AND METABOLISM

Sleep spindles and K-complex activities are decreased in Spinocerebellar Ataxia type 2: relationship to memory and motor performances

(2019) Roberto Rodríguez-Labrada et al.   SLEEP MEDICINE

Conserved role for Ataxin‐2 in mediating endoplasmic reticulum dynamics

(2019) Urko del Castillo et al.   TRAFFIC

Lysosomal Glycosphingolipid Storage Diseases

(2019) Bernadette Breiden et al.   Annual Review of Biochemistry

Alteration of Sphingolipids in Biofluids: Implications for Neurodegenerative Diseases

(2019) Luciana M. Pujol-Lereis   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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

Emerging mechanisms of drug-induced phospholipidosis

(2019) Bernadette Breiden et al.   BIOLOGICAL CHEMISTRY

Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations

(2019) Ferenc Deák et al.   Frontiers in Cellular Neuroscience

The fate of medium-chain fatty acids in very long-chain acyl‑CoA dehydrogenase deficiency (VLCADD): A matter of sex?

(2019) Zeinab Wehbe et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Factors associated with ATXN2 CAG/CAA repeat intergenerational instability in Spinocerebellar ataxia type 2

(2018) L.E. Almaguer-Mederos et al.   CLINICAL GENETICS

Progression of corticospinal tract dysfunction in pre-ataxic spinocerebellar ataxia type 2: A two-years follow-up TMS study

(2018) Luis Velázquez-Pérez et al.   CLINICAL NEUROPHYSIOLOGY

Calcium Signaling, PKC Gamma, IP3R1 and CAR8 Link Spinocerebellar Ataxias and Purkinje Cell Dendritic Development

(2018) Etsuko Shimobayashi et al.   Current Neuropharmacology

Multiple System Atrophy: An Oligodendroglioneural Synucleinopathy1

(2018) Kurt A. Jellinger   JOURNAL OF ALZHEIMERS DISEASE

DominantELOVL1mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

(2018) Anna Kutkowska-Kaźmierczak et al.   JOURNAL OF MEDICAL GENETICS

Sphingolipids and neuronal degeneration in lysosomal storage disorders

(2018) Sara Grassi et al.   JOURNAL OF NEUROCHEMISTRY

Glycosphingolipid levels and glucocerebrosidase activity are altered in normal aging of the mouse brain

(2018) Penelope J. Hallett et al.   NEUROBIOLOGY OF AGING

A pharmaco-metabolomics approach in a clinical trial of ALS: Identification of predictive markers of progression

(2018) Hélène Blasco et al.   PLoS One

SMPD3 deficiency perturbs neuronal proteostasis and causes progressive cognitive impairment

(2018) Wilhelm Stoffel et al.   Cell Death & Disease

Sphingolipid Metabolism: A New Therapeutic Opportunity for Brain Degenerative Disorders

(2018) Alba Di Pardo et al.   Frontiers in Neuroscience

Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2

(2018) Kathrin Reetz et al.   Annals of Clinical and Translational Neurology

Parkin and PINK1 mitigate STING-induced inflammation

(2018) Danielle A. Sliter et al.   NATURE

ATXN2 intermediate repeat expansions influence the clinical phenotype in Frontotemporal Dementia

(2018) Elisa Rubino et al.   NEUROBIOLOGY OF AGING

Lactosylceramide synthases encoded by B4galt5 and 6 genes are pivotal for neuronal generation and myelin formation in mice

(2018) Toru Yoshihara et al.   PLoS Genetics

De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy

(2018) Noomi Mueller et al.   JOURNAL OF MEDICAL GENETICS

Sphingolipids in the Pathogenesis of Parkinson’s Disease and Parkinsonism

(2018) Guang Lin et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Myelination and mTOR

(2017) Gianluca Figlia et al.   GLIA

Sphingolipid pathway enzymes modulate cell fate and immune responses

(2017) S Molino et al.   Immunotherapy

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

Types A and B Niemann-Pick disease

(2017) Edward H. Schuchman et al.   MOLECULAR GENETICS AND METABOLISM

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

Sphingosine Toxicity in EAE and MS: Evidence for Ceramide Generation via Serine-Palmitoyltransferase Activation

(2017) Lawrence G. Miller et al.   NEUROCHEMICAL RESEARCH

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

(2017) Georg Auburger et al.   TRENDS IN NEUROSCIENCES

Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice

(2017) Eriola Hoxha et al.   Frontiers in Cellular Neuroscience

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione

(2017) Gerrit Kürschner et al.   Oncotarget

PINK1 and Ataxin-2 as modifiers of growth

(2017) Nesli E. Sen et al.   Oncotarget

Sphingolipids: membrane microdomains in brain development, function and neurological diseases

(2017) Anne S. B. Olsen et al.   Open Biology

Whole Genome Expression Analysis in a Mouse Model of Tauopathy Identifies MECP2 as a Possible Regulator of Tau Pathology

(2017) Nicole M. Maphis et al.   Frontiers in Molecular Neuroscience

Lipidomics Reveals Cerebrospinal-Fluid Signatures of ALS

(2017) H. Blasco et al.   Scientific Reports

Rapamycin Inhibits Expression of Elongation of Very-long-chain Fatty Acids 1 and Synthesis of Docosahexaenoic Acid in Bovine Mammary Epithelial Cells

(2016) Zhixin Guo et al.   ASIAN-AUSTRALASIAN JOURNAL OF ANIMAL SCIENCES

Loss of neutral ceramidase protects cells from nutrient- and energy -deprivation-induced cell death

(2016) K. Sundaram et al.   BIOCHEMICAL JOURNAL

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

Exosome secretion is a key pathway for clearance of pathological TDP-43

(2016) Yohei Iguchi et al.   BRAIN

On the distribution of intranuclear and cytoplasmic aggregates in the brainstem of patients with spinocerebellar ataxia type 2 and 3

(2016) Kay Seidel et al.   BRAIN PATHOLOGY

Corticomuscular Coherence: a Novel Tool to Assess the Pyramidal Tract Dysfunction in Spinocerebellar Ataxia Type 2

(2016) Luis Velázquez-Pérez et al.   CEREBELLUM

Atxn2 Knockout and CAG42-Knock-in Cerebellum Shows Similarly Dysregulated Expression in Calcium Homeostasis Pathway

(2016) Melanie Vanessa Halbach et al.   CEREBELLUM

Impact of Ataxin-2 knock out on circadian locomotor behavior and PER immunoreaction in the SCN of mice

(2016) Martina Pfeffer et al.   CHRONOBIOLOGY INTERNATIONAL

Abnormal corticospinal tract function and motor cortex excitability in non-ataxic SCA2 mutation carriers: A TMS study

(2016) Luis Velázquez-Pérez et al.   CLINICAL NEUROPHYSIOLOGY

Sphingosine-1-Phosphate (S1P) and S1P Signaling Pathway: Therapeutic Targets in Autoimmunity and Inflammation

(2016) Hsing-Chuan Tsai et al.   DRUGS

n-3 Fatty acids modulate the mRNA expression of theNlrp3inflammasome andMtorin the liver of rats fed with high-fat or high-fat/fructose diets

(2016) Natalia Garay-Lugo et al.   IMMUNOPHARMACOLOGY AND IMMUNOTOXICOLOGY

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

Central motor conduction time as prodromal biomarker in spinocerebellar ataxia type 2

(2016) Luis Velázquez-Pérez et al.   MOVEMENT DISORDERS

Spinocerebellar ataxia type 2: Measures of saccade changes improve power for clinical trials

(2016) Roberto Rodríguez-Labrada et al.   MOVEMENT DISORDERS

Loss of ceramide synthase 2 activity, necessary for myelin biosynthesis, precedes tau pathology in the cortical pathogenesis of Alzheimer's disease

(2016) Timothy A. Couttas et al.   NEUROBIOLOGY OF AGING

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

No parkinsonism in SCA2 and SCA3 despite severe neurodegeneration of the dopaminergic substantia nigra

(2015) Ludger Schöls et al.   BRAIN

Inhibition of Mammalian Target of Rapamycin Complex 1 (mTORC1) Downregulates ELOVL1 Gene Expression and Fatty Acid Synthesis in Goat Fetal Fibroblasts

(2015) Weipeng Wang et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

(2015) Lisa Wang et al.   NEUROLOGY

Parkinsonism in Spinocerebellar Ataxia

(2015) Hyeyoung Park et al.   Biomed Research International

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

ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

(2014) Eleonora Di Gregorio et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy

(2014) Nicola Vanni et al.   ANNALS OF NEUROLOGY

Stress-induced ceramide generation and apoptosis via the phosphorylation and activation of nSMase1 by JNK signaling

(2014) T Yabu et al.   CELL DEATH AND DIFFERENTIATION

Comprehensive Study of Early Features in Spinocerebellar Ataxia 2: Delineating the Prodromal Stage of the Disease

(2014) Luis Velázquez-Pérez et al.   CEREBELLUM

Sphingolipids: Key Regulators of Apoptosis and Pivotal Players in Cancer Drug Resistance

(2014) Paola Giussani et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

ASMase regulates autophagy and lysosomal membrane permeabilization and its inhibition prevents early stage non-alcoholic steatohepatitis

(2014) Raquel Fucho et al.   JOURNAL OF HEPATOLOGY

Metabolome and Proteome Profiling of Complex I Deficiency Induced by Rotenone

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

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

(2014) Moe Yokoshi et al.   MOLECULAR CELL

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

(2014) Mai-Britt Mosbech et al.   Annals of Clinical and Translational Neurology

Innate Immune Activation in the Pathogenesis of a Murine Model of Globoid Cell Leukodystrophy

(2013) Eric R. Snook et al.   AMERICAN JOURNAL OF PATHOLOGY

Inhibition of mTORC1 by Astrin and Stress Granules Prevents Apoptosis in Cancer Cells

(2013) Kathrin Thedieck et al.   CELL

A Central Role for mTOR in Lipid Homeostasis

(2013) Dudley W. Lamming et al.   Cell Metabolism

Regulation of mTORC1 and its impact on gene expression at a glance

(2013) M. Laplante et al.   JOURNAL OF CELL SCIENCE

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

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

Involvement of the cholinergic basal forebrain nuclei in spinocerebellar ataxia type 2 (SCA2)

(2013) U. Rüb et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

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

Brain pathology of spinocerebellar ataxias

(2012) Kay Seidel et al.   ACTA NEUROPATHOLOGICA

Ceramide synthases at the centre of sphingolipid metabolism and biology

(2012) Thomas D. Mullen et al.   BIOCHEMICAL JOURNAL

Very long-chain fatty acids: elongation, physiology and related disorders

(2012) A. Kihara   JOURNAL OF BIOCHEMISTRY

Neutral Sphingomyelinase 2 Deficiency Increases Hyaluronan Synthesis by Up-regulation of Hyaluronan Synthase 2 through Decreased Ceramide Production and Activation of Akt

(2012) Jingdong Qin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Sphingolipids: regulators of crosstalk between apoptosis and autophagy

(2012) Megan M. Young et al.   JOURNAL OF LIPID RESEARCH

Spinocerebellar Ataxia Type 2: Clinical Presentation, Molecular Mechanisms, and Therapeutic Perspectives

(2012) J. J. Magaña et al.   MOLECULAR NEUROBIOLOGY

Primary Skin Fibroblasts as a Model of Parkinson's Disease

(2012) Georg Auburger et al.   MOLECULAR NEUROBIOLOGY

Molecular recognition of a single sphingolipid species by a protein’s transmembrane domain

(2012) F.-Xabier Contreras et al.   NATURE

Mechanisms involved in cellular ceramide homeostasis

(2012) M Hussain et al.   Nutrition & Metabolism

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

(2012) Suna Lahut et al.   PLoS One

Association between Proton Magnetic Resonance Spectroscopy Measurements and CAG Repeat Number in Patients with Spinocerebellar Ataxias 2, 3, or 6

(2012) Po-Shan Wang et al.   PLoS One

Novel qualitative aspects of tissue fatty acids related to metabolic regulation: Lessons from Elovl6 knockout

(2012) Hitoshi Shimano   PROGRESS IN LIPID RESEARCH

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

(2012) Ewa Damrath et al.   PLoS Genetics

Pathoanatomy of Cerebellar Degeneration in Spinocerebellar Ataxia Type 2 (SCA2) and Type 3 (SCA3)

(2011) W. Scherzed et al.   CEREBELLUM

Ataxin-2 repeat-length variation and neurodegeneration

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

Encephalopathy Caused by Ablation of Very Long Acyl Chain Ceramide Synthesis May Be Largely Due to Reduced Galactosylceramide Levels

(2011) Oshrit Ben-David et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Saccadic latency is prolonged in Spinocerebellar Ataxia type 2 and correlates with the frontal-executive dysfunctions

(2011) Roberto Rodríguez-Labrada et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Excitation-induced ataxin-3 aggregation in neurons from patients with Machado–Joseph disease

(2011) Philipp Koch 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

Sleep Disorders in Spinocerebellar Ataxia Type 2 Patients

(2011) Luis Velázquez-Pérez et al.   Neurodegenerative Diseases

Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms

(2011) A. R. Paciorkowski et al.   NEUROLOGY

Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

(2010) Annelies Rotthier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spinocerebellar Ataxia Type 2 (SCA2): Identification of Early Brain Degeneration in One Monozygous Twin in the Initial Disease Stage

(2010) Franziska Hoche et al.   CEREBELLUM

Mammalian ceramide synthases

(2010) Michal Levy et al.   IUBMB LIFE

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

Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis

(2009) LE Almaguer-Mederos et al.   CLINICAL GENETICS

Saccade velocity is reduced in presymptomatic spinocerebellar ataxia type 2

(2009) L. Velázquez-Pérez et al.   CLINICAL NEUROPHYSIOLOGY

Sphingolipids and gangliosides of the nervous system in membrane function and dysfunction

(2009) Elena Posse de Chaves et al.   FEBS LETTERS

Adult Ceramide Synthase 2 (CERS2)-deficient Mice Exhibit Myelin Sheath Defects, Cerebellar Degeneration, and Hepatocarcinomas

(2009) Silke Imgrund et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Tumor necrosis factor-α-induced neutral sphingomyelinase-2 modulates synaptic plasticity by controlling the membrane insertion of NMDA receptors

(2009) David Wheeler et al.   JOURNAL OF NEUROCHEMISTRY

Ceramidases: regulators of cellular responses mediated by ceramide, sphingosine, and sphingosine-1-phosphate

(2008) C MAO   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

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

(2008) David Nonis et al.   CELLULAR SIGNALLING

Spinocerebellar ataxia 2 (SCA2)

(2008) Isabel Lastres-Becker et al.   CEREBELLUM

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

Involvement of the auditory brainstem system in spinocerebellar ataxia type 2 (SCA2), type 3 (SCA3) and type 7 (SCA7)

(2008) F. Hoche et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Stress granules: the Tao of RNA triage

(2008) Paul Anderson et al.   TRENDS IN BIOCHEMICAL SCIENCES