The Molecular Basis of Spinocerebellar Ataxia Type 7

Drebrin regulates cytoskeleton dynamics in migrating neurons through interaction with CXCR4

(2021) Yufei Shan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Respiratory dysfunction in a mouse model of spinocerebellar ataxia type 7

(2021) Anna F. Fusco et al.   Disease Models & Mechanisms

Mutant HTT (huntingtin) impairs mitophagy in a cellular model of Huntington disease

(2020) Sandra Franco-Iborra et al.   Autophagy

Structure of the transcription coactivator SAGA

(2020) Haibo Wang et al.   NATURE

Body mass index predicts cognitive aging trajectories selectively for females: Evidence from the Victoria Longitudinal Study.

(2020) Linzy Bohn et al.   NEUROPSYCHOLOGY

Expression of mutant exon 1 huntingtin fragments in human neural stem cells and neurons causes inclusion formation and mitochondrial dysfunction

(2020) Rhia Ghosh et al.   FASEB JOURNAL

Association of body mass index with longitudinal rates of retinal atrophy in multiple sclerosis

(2020) Angeliki G Filippatou et al.   Multiple Sclerosis Journal

What do the structures of GCN5-containing complexes teach us about their function?

(2020) Dominique Helmlinger et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Dynamic modules of the coactivator SAGA in eukaryotic transcription

(2020) Youngseo Cheon et al.   EXPERIMENTAL AND MOLECULAR MEDICINE

Aberrant Cerebellar Circuitry in the Spinocerebellar Ataxias

(2020) Katherine J. Robinson et al.   Frontiers in Neuroscience

Linking epigenetic dysregulation, mitochondrial impairment, and metabolic dysfunction in SBMA motor neurons

(2020) Naemeh Pourshafie et al.   JCI Insight

Function and regulation of the Spt-Ada-Gcn5-Acetyltransferase (SAGA) deubiquitinase module

(2020) Dayanne V. Cornelio-Parra et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Synaptic vesicle traffic is supported by transient actin filaments and regulated by PKA and NO

(2020) Nicolas Chenouard et al.   Nature Communications

Mitochondrial SIRT3 confers neuroprotection in Huntington's disease by regulation of oxidative challenges and mitochondrial dynamics

(2020) Luana Naia et al.   FREE RADICAL BIOLOGY AND MEDICINE

Actin dynamics in the growth cone: a key player in axon regeneration

(2020) Sérgio Carvalho Leite et al.   CURRENT OPINION IN NEUROBIOLOGY

Impaired Redox Signaling in Huntington’s Disease: Therapeutic Implications

(2019) Bindu D. Paul et al.   Frontiers in Molecular Neuroscience

Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease

(2019) Jacqueline M. Ward et al.   Cell Reports

Circular RNA ATXN7 is upregulated in non‑small cell lung cancer and promotes disease progression

(2019) Qi Huang et al.   Oncology Letters

Glycated Hemoglobin, but not Insulin Sensitivity, is Associated with Memory in Subjects with Obesity

(2019) María Arnoriaga Rodríguez et al.   Obesity

Towards a comprehensive understanding of the contributions of mitochondrial dysfunction and oxidative stress in the pathogenesis and pathophysiology of Huntington's disease

(2019) Tobore Onojighofia Tobore   JOURNAL OF NEUROSCIENCE RESEARCH

Obesity worsens central inflammation and disability in multiple sclerosis

(2019) Mario Stampanoni Bassi et al.   Multiple Sclerosis Journal

Ataxin-7 and Non-stop coordinate SCAR protein levels, subcellular localization, and actin cytoskeleton organization

(2019) Veronica Cloud et al.   eLife

Nuclear actin filaments in DNA repair dynamics

(2019) Christopher Patrick Caridi et al.   NATURE CELL BIOLOGY

Treadmill exercise rescues mitochondrial function and motor behavior in the CAG140 knock-in mouse model of Huntington's disease

(2019) Charles C. Caldwell et al.   CHEMICO-BIOLOGICAL INTERACTIONS

Nicotinamide Pathway-Dependent Sirt1 Activation Restores Calcium Homeostasis to Achieve Neuroprotection in Spinocerebellar Ataxia Type 7

(2019) Colleen A. Stoyas et al.   NEURON

Tandem repeats mediating genetic plasticity in health and disease

(2018) Anthony J. Hannan   NATURE REVIEWS GENETICS

The SAGA/TREX-2 subunit Sus1 binds widely to transcribed genes and affects mRNA turnover globally

(2018) Varinia García-Molinero et al.   Epigenetics & Chromatin

Repeat length variations in polyglutamine disease-associated genes affect body mass index

(2018) Sarah L. Gardiner et al.   INTERNATIONAL JOURNAL OF OBESITY

Transcription and mRNA export machineries SAGA and TREX-2 maintain monoubiquitinated H2B balance required for DNA repair

(2018) Federica M. Evangelista et al.   JOURNAL OF CELL BIOLOGY

Unfavourable gender effect of high body mass index on brain metabolism and connectivity

(2018) Maura Malpetti et al.   Scientific Reports

SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models

(2018) Martina Marinello et al.   Disease Models & Mechanisms

Body mass index, but not vitamin D status, is associated with brain volume change in MS

(2018) Ellen M. Mowry et al.   NEUROLOGY

The Atxn7-overexpressing mice showed hyperactivity and impulsivity which were ameliorated by atomoxetine treatment: A possible animal model of the hyperactive-impulsive phenotype of ADHD

(2018) Irene Joy I. dela Peña et al.   PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY

Enzymatic modules of the SAGA chromatin-modifying complex play distinct roles in Drosophila gene expression and development

(2017) Xuanying Li et al.   GENES & DEVELOPMENT

Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression

(2017) S L Gardiner et al.   Translational Psychiatry

Huntingtin gene repeat size variations affect risk of lifetime depression

(2017) Sarah L. Gardiner et al.   Translational Psychiatry

ATXN7L3 and ENY2 Coordinate Activity of Multiple H2B Deubiquitinases Important for Cellular Proliferation and Tumor Growth

(2016) Boyko S. Atanassov et al.   MOLECULAR CELL

Genetic variants associated with subjective well-being, depressive symptoms and neuroticism identified through genome-wide analyses

(2016) Aysu Okbay et al.   NATURE GENETICS

Identification of 15 genetic loci associated with risk of major depression in individuals of European descent

(2016) Craig L Hyde et al.   NATURE GENETICS

Spinocerebellar Ataxia Type 7: A Neurodegenerative Disorder with Peripheral Neuropathy

(2015) José Salas-Vargas et al.   EUROPEAN NEUROLOGY

Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic population

(2015) AchalKumar Srivastava et al.   INDIAN JOURNAL OF MEDICAL RESEARCH

Aggregation of Polyglutamine-expanded Ataxin 7 Protein Specifically Sequesters Ubiquitin-specific Protease 22 and Deteriorates Its Deubiquitinating Function in the Spt-Ada-Gcn5-Acetyltransferase (SAGA) Complex

(2015) Hui Yang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Conformational Flexibility and Subunit Arrangement of the Modular Yeast Spt-Ada-Gcn5 Acetyltransferase Complex

(2015) Dheva Setiaputra et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Poly(Q) Expansions in ATXN7 Affect Solubility but Not Activity of the SAGA Deubiquitinating Module

(2015) Xianjiang Lan et al.   MOLECULAR AND CELLULAR BIOLOGY

Alzheimer's and Parkinson's diseases: The prion concept in relation to assembled A , tau, and  -synuclein

(2015) M. Goedert   SCIENCE

Neurodegeneration and microtubule dynamics: death by a thousand cuts

(2015) Jyoti Dubey et al.   Frontiers in Cellular Neuroscience

Massive CAG Repeat Expansion and Somatic Instability in Maternally Transmitted Infantile Spinocerebellar Ataxia Type 7

(2015) Heather Trang et al.   JAMA Neurology

The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice

(2014) Sandro Alves et al.   ACTA NEUROPATHOLOGICA

The WAVE Regulatory Complex Links Diverse Receptors to the Actin Cytoskeleton

(2014) Baoyu Chen et al.   CELL

The expanding role for chromatin and transcription in polyglutamine disease

(2014) Ryan D Mohan et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Loss of Drosophila Ataxin-7, a SAGA subunit, reduces H2B ubiquitination and leads to neural and retinal degeneration

(2014) R. D. Mohan et al.   GENES & DEVELOPMENT

A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7

(2014) L. Velázquez-Pérez et al.   NEUROGENETICS

Mapping the Deubiquitination Module within the SAGA Complex

(2014) Alexandre Durand et al.   STRUCTURE

Sumoylation: A Regulatory Protein Modification in Health and Disease

(2013) Annette Flotho et al.   Annual Review of Biochemistry

Direct Inhibition of Gcn5 Protein Catalytic Activity by Polyglutamine-expanded Ataxin-7

(2013) Tara L. Burke et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Microtubule-based transport - basic mechanisms, traffic rules and role in neurological pathogenesis

(2013) M. A. M. Franker et al.   JOURNAL OF CELL SCIENCE

Clinical Neurogenetics

(2013) Vikram G. Shakkottai et al.   NEUROLOGIC CLINICS

A novel role for Sem1 and TREX-2 in transcription involves their impact on recruitment and H2B deubiquitylation activity of SAGA

(2013) Encar García-Oliver et al.   NUCLEIC ACIDS RESEARCH

Brain pathology of spinocerebellar ataxias

(2012) Kay Seidel et al.   ACTA NEUROPATHOLOGICA

Developmental expression of Drosophila Wiskott-Aldrich Syndrome family proteins

(2012) Evelyn Rodriguez-Mesa et al.   DEVELOPMENTAL DYNAMICS

Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7

(2012) S. A. Furrer et al.   HUMAN MOLECULAR GENETICS

Cell biology of spinocerebellar ataxia

(2012) Harry T. Orr   JOURNAL OF CELL BIOLOGY

A mega-analysis of genome-wide association studies for major depressive disorder

(2012)   MOLECULAR PSYCHIATRY

mRNA export and gene expression: The SAGA–TREX-2 connection

(2011) Encar García-Oliver et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network

(2011) Yoko Nakamura et al.   HUMAN MOLECULAR GENETICS

Genes and pathways affected by CAG-repeat RNA-based toxicity in Drosophila

(2011) Shin-Yi Shieh et al.   HUMAN MOLECULAR GENETICS

Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model

(2011) Yi Chun Chen et al.   HUMAN MOLECULAR GENETICS

Spinocerebellar Ataxia Type 7 Cerebellar Disease Requires the Coordinated Action of Mutant Ataxin-7 in Neurons and Glia, and Displays Non-Cell-Autonomous Bergmann Glia Degeneration

(2011) S. A. Furrer et al.   JOURNAL OF NEUROSCIENCE

An overview of mongenic and syndromic obesities in humans

(2011) Wendy K. Chung   PEDIATRIC BLOOD & CANCER

SAGA function in tissue-specific gene expression

(2011) Vikki M. Weake et al.   TRENDS IN CELL BIOLOGY

Structural Basis for Assembly and Activation of the Heterotetrameric SAGA Histone H2B Deubiquitinase Module

(2010) Alwin Köhler et al.   CELL

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

(2010) Alexandra Durr   LANCET NEUROLOGY

Repeat instability as the basis for human diseases and as a potential target for therapy

(2010) Arturo López Castel et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Clinical and genetic study of a Chinese family with spinocerebellar ataxia type 7

(2010) Yangtai Guan et al.   NEUROLOGY INDIA

Structural Insights into the Assembly and Function of the SAGA Deubiquitinating Module

(2010) N. L. Samara et al.   SCIENCE

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling

(2010) Stephanie Schorge et al.   TRENDS IN NEUROSCIENCES

SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7

(2009) Alexandre Janer et al.   HUMAN MOLECULAR GENETICS

Posttranslational Modification of Ataxin-7 at Lysine 257 Prevents Autophagy-Mediated Turnover of an N-Terminal Caspase-7 Cleavage Fragment

(2009) S. Mookerjee et al.   JOURNAL OF NEUROSCIENCE

Sodium Entry during Action Potentials of Mammalian Neurons: Incomplete Inactivation and Reduced Metabolic Efficiency in Fast-Spiking Neurons

(2009) Brett C. Carter et al.   NEURON

A perinuclear actin cap regulates nuclear shape

(2009) Shyam B. Khatau et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Yeast Sgf73/Ataxin-7 serves to anchor the deubiquitination module into both SAGA and Slik(SALSA) HAT complexes

(2009) Kenneth K Lee et al.   Epigenetics & Chromatin

SAGA-mediated H2B deubiquitination controls the development of neuronal connectivity in the Drosophila visual system

(2008) Vikki M Weake et al.   EMBO JOURNAL

RNA toxicity is a component of ataxin-3 degeneration in Drosophila

(2008) Ling-Bo Li et al.   NATURE

Yeast Ataxin-7 links histone deubiquitination with gene gating and mRNA export

(2008) Alwin Köhler et al.   NATURE CELL BIOLOGY