Molecular Targets and Therapeutic Strategies in Spinocerebellar Ataxia Type 7

Ophthalmological and Neurologic Manifestations in Pre-clinical and Clinical Phases of Spinocerebellar Ataxia Type 7

(2019) Pietro B. Azevedo et al.   CEREBELLUM

Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias

(2019) Ronald A.M. Buijsen et al.   Neurotherapeutics

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

Cell Death Mechanisms in a Mouse Model of Retinal Degeneration in Spinocerebellar Ataxia 7

(2019) Cecile Lebon et al.   NEUROSCIENCE

Pioneering antisense drug heads into pivotal trials for Huntington disease

(2019) Asher Mullard   NATURE REVIEWS DRUG DISCOVERY

Wide Profiling of Circulating MicroRNAs in Spinocerebellar Ataxia Type 7

(2019) Verónica M. Borgonio-Cuadra et al.   MOLECULAR NEUROBIOLOGY

Effects of Physical Rehabilitation in Patients with Spinocerebellar Ataxia Type 7

(2019) Karla Tercero-Pérez et al.   CEREBELLUM

Targeting Huntingtin Expression in Patients with Huntington’s Disease

(2019) Sarah J. Tabrizi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Spinocerebellar ataxia

(2019) Thomas Klockgether et al.   Nature Reviews Disease Primers

Lethal form of spinocerebellar ataxia type 7 with early onset in childhood

(2018) G. Gousse et al.   ARCHIVES DE PEDIATRIE

Oxidative Stress in Spinocerebellar Ataxia Type 7 Is Associated with Disease Severity

(2018) Y. Torres-Ramos et al.   CEREBELLUM

Distinct expression of the neurotoxic microRNA family let-7 in the cerebrospinal fluid of patients with Alzheimer's disease

(2018) Katja Derkow et al.   PLoS One

Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes

(2018) Isaac M. Adanyeguh et al.   NeuroImage-Clinical

Motor and cognitive impairments in spinocerebellar ataxia type 7 and its correlations with cortical volumes

(2018) Amanda Chirino et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

SynAggreg: A Multifunctional High-Throughput Technology for Precision Study of Amyloid Aggregation and Systematic Discovery of Synergistic Inhibitor Compounds

(2018) Hubert Aviolat et al.   JOURNAL OF MOLECULAR BIOLOGY

Unique degeneration signatures in the cerebellar cortex for spinocerebellar ataxias 2, 3, and 7

(2018) Carlos R. Hernandez-Castillo et al.   NeuroImage-Clinical

Biodegradable Nanoparticles Containing Mechanism Based Peptide Inhibitors Reduce Polyglutamine Aggregation in Cell Models and Alleviate Motor Symptoms in a Drosophila Model of Huntington’s Disease

(2018) Abhayraj S. Joshi et al.   ACS Chemical Neuroscience

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

Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors

(2018) Samantha Carrillo-Rosas et al.   HUMAN MOLECULAR GENETICS

Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7

(2018) Chenchen Niu et al.   Science Translational Medicine

Programmable Molecular Scissors: Applications of a New Tool for Genome Editing in Biotech

(2018) Subbroto Kumar Saha et al.   Molecular Therapy-Nucleic Acids

Ophthalmic features of spinocerebellar ataxia type 7

(2017) A Campos-Romo et al.   EYE

Diencephalic Size Is Restricted by a Novel Interplay Between GCN5 Acetyltransferase Activity and Retinoic Acid Signaling

(2017) Jonathan J. Wilde et al.   JOURNAL OF NEUROSCIENCE

Voice Alterations in Patients With Spinocerebellar Ataxia Type 7 (SCA7): Clinical-Genetic Correlations

(2017) Annel Gómez-Coello et al.   JOURNAL OF VOICE

Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters

(2017) Nanna Cornelius et al.   MITOCHONDRION

Knockdown and replacement therapy mediated by artificial mirtrons in spinocerebellar ataxia 7

(2017) Helen J. Curtis et al.   NUCLEIC ACIDS RESEARCH

A selective inhibitor of histone deacetylase 3 prevents cognitive deficits and suppresses striatal CAG repeat expansions in Huntington’s disease mice

(2017) Nuria Suelves et al.   Scientific Reports

Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins

(2016) Sandro Alves et al.   Molecular Neurodegeneration

KAT2A/KAT2B-targeted acetylome reveals a role for PLK4 acetylation in preventing centrosome amplification

(2016) Marjorie Fournier et al.   Nature Communications

Transcriptome Profiling Identifies Multiplexin as a Target of SAGA Deubiquitinase Activity in Glia Required for Precise Axon Guidance During Drosophila Visual Development

(2016) Jingqun Ma et al.   G3-Genes Genomes Genetics

Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay

(2016) Myungjin Kim et al.   eLife

Mutant CAG Repeats Effectively Targeted by RNA Interference in SCA7 Cells

(2016) Agnieszka Fiszer et al.   Genes

Altered p53 and NOX1 activity cause bioenergetic defects in a SCA7 polyglutamine disease model

(2015) Abiodun Ajayi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Specific cerebellar and cortical degeneration correlates with ataxia severity in spinocerebellar ataxia type 7

(2015) Carlos R. Hernandez-Castillo et al.   Brain Imaging and Behavior

Spinocerebellar Ataxia Type 7: A Neurodegenerative Disorder with Peripheral Neuropathy

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

Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction

(2015) S. J. Guyenet et al.   HUMAN MOLECULAR GENETICS

Neuronal identity genes regulated by super-enhancers are preferentially down-regulated in the striatum of Huntington's disease mice

(2015) M. Achour et al.   HUMAN MOLECULAR GENETICS

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

Evidence for a common founder effect amongst South African and Zambian individuals with Spinocerebellar ataxia type 7

(2015) Danielle C. Smith et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Infantile spinocerebellar ataxia type 7: Case report and a review of the literature

(2015) Karina Carvalho Donis et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

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

Autophagy in polyglutamine disease: Imposing order on disorder or contributing to the chaos?

(2015) Constanza J. Cortes et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7

(2015) Isaac M. Adanyeguh et al.   MOVEMENT DISORDERS

An in vivo platform for identifying inhibitors of protein aggregation

(2015) Janet C Saunders et al.   Nature Chemical Biology

Overexpression of blood microRNAs 103a, 30b, and 29a in L-dopa-treated patients with PD

(2015) A. Serafin et al.   NEUROLOGY

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

A Preliminary Characterisation of Cognition and Social Cognition in Spinocerebellar Ataxia Types 2, 1, and 7

(2014) N. Sokolovsky et al.   BEHAVIOURAL NEUROLOGY

Allele-specific silencing of mutant Ataxin-7 in SCA7 patient-derived fibroblasts

(2014) Janine Scholefield et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

The SAGA coactivator complex acts on the whole transcribed genome and is required for RNA polymerase II transcription

(2014) Jacques Bonnet et al.   GENES & DEVELOPMENT

Silencing Mutant Huntingtin by Adeno-Associated Virus-Mediated RNA Interference Ameliorates Disease Manifestations in the YAC128 Mouse Model of Huntington's Disease

(2014) Lisa M. Stanek et al.   HUMAN GENE THERAPY

Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model

(2014) Francesca Maltecca et al.   JOURNAL OF CLINICAL INVESTIGATION

In Vivo Evaluation of Candidate Allele-specific Mutant Huntingtin Gene Silencing Antisense Oligonucleotides

(2014) Amber L Southwell et al.   MOLECULAR THERAPY

Nonallele Specific Silencing of Ataxin-7 Improves Disease Phenotypes in a Mouse Model of SCA7

(2014) Pavitra S Ramachandran et al.   MOLECULAR THERAPY

Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7

(2014) Jennifer Y Tan et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

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

Oligonucleotide-based strategies to combat polyglutamine diseases

(2014) A. Fiszer et al.   NUCLEIC ACIDS RESEARCH

Functions of SAGA in development and disease

(2014) Li Wang et al.   Epigenomics

The SAGA Histone Deubiquitinase Module Controls Yeast Replicative Lifespan via Sir2 Interaction

(2014) Mark A. McCormick et al.   Cell Reports

Interferon beta induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice

(2013) Alice Chort et al.   BRAIN

Origin of the Spinocerebellar Ataxia Type 7 Gene Mutation in Mexican Population

(2013) J. J. Magaña et al.   CEREBELLUM

Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effect

(2013) J.J. Magaña et al.   CLINICAL GENETICS

MicroRNA profiling in the serums of SCA3/MJD patients

(2013) Yuting Shi et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

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

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

Inhibition of Autophagy via p53-Mediated Disruption of ULK1 in a SCA7 Polyglutamine Disease Model

(2013) Xin Yu et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Histone deacetylase-3 interacts with ataxin-7 and is altered in a spinocerebellar ataxia type 7 mouse model

(2013) Carlotta E Duncan et al.   Molecular Neurodegeneration

Disruption of visual and motor connectivity in spinocerebellar ataxia type 7

(2013) Carlos R. Hernandez-Castillo et al.   MOVEMENT DISORDERS

Inhibition of Protein Misfolding/Aggregation Using Polyglutamine Binding Peptide QBP1 as a Therapy for the Polyglutamine Diseases

(2013) H. Akiko Popiel et al.   Neurotherapeutics

Self-duplexing CUG repeats selectively inhibit mutant huntingtin expression

(2013) Agnieszka Fiszer et al.   NUCLEIC ACIDS RESEARCH

Factors Influencing Disease Progression in Autosomal Dominant Cerebellar Ataxia and Spastic Paraplegia

(2012) Perrine Charles   ARCHIVES OF NEUROLOGY

Expanded ataxin-7 cause toxicity by inducing ROS production from NADPH oxidase complexes in a stable inducible Spinocerebellar ataxia type 7 (SCA7) model

(2012) Abiodun Ajayi et al.   BMC NEUROSCIENCE

Comparative analyses of Purkinje cell gene expression profiles reveal shared molecular abnormalities in models of different polyglutamine diseases

(2012) Bernd Friedrich et al.   BRAIN RESEARCH

Spinocerebellar Ataxia Type 7: Clinical Course, Phenotype–Genotype Correlations, and Neuropathology

(2012) Laura C. Horton et al.   CEREBELLUM

Overexpression of HGF attenuates the degeneration of Purkinje cells and Bergmann glia in a knockin mouse model of spinocerebellar ataxia type 7

(2012) Satsuki Noma et al.   NEUROSCIENCE RESEARCH

Requirement for Zebrafish Ataxin-7 in Differentiation of Photoreceptors and Cerebellar Neurons

(2012) Constantin Yanicostas et al.   PLoS One

Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes

(2012) S. D. McCullough et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade

(2012) C. E. Bulawa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Recognition of Facial Emotions in Spinocerebellar Ataxia Patients

(2011) Federico D’Agata et al.   CEREBELLUM

Ataxia Rating Scales—Psychometric Profiles, Natural History and Their Application in Clinical Trials

(2011) Jonas Alex Morales Saute et al.   CEREBELLUM

Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network

(2011) Yoko Nakamura 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

Oligonucleotide therapeutic approaches for Huntington disease

(2011) Dinah W.Y. Sah et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Engineered antibody therapies to counteract mutant huntingtin and related toxic intracellular proteins

(2011) David C. Butler et al.   PROGRESS IN NEUROBIOLOGY

The linker histone H1C contributes to the SCA7 nuclear phenotype

(2011) Caroline Kizilyaprak et al.   Nucleus

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

(2010) Alwin Köhler et al.   CELL

The structural plasticity of SCA7 domains defines their differential nucleosome-binding properties

(2010) Jacques Bonnet et al.   EMBO REPORTS

Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia

(2010) Juliette J. Kahle et al.   HUMAN MOLECULAR GENETICS

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

(2010) Alan F. Wright et al.   NATURE REVIEWS GENETICS

Polyglutamine toxicity induces rod photoreceptor division, morphological transformation or death in Spinocerebellar ataxia 7 mouse retina

(2010) Marina G. Yefimova et al.   NEUROBIOLOGY OF DISEASE

Amyloid precursor-like protein 2 cleavage contributes to neuronal intranuclear inclusions and cytotoxicity in spinocerebellar ataxia-7 (SCA7)

(2010) Junko Takahashi-Fujigasaki et al.   NEUROBIOLOGY OF DISEASE

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

(2010) N. L. Samara et al.   SCIENCE

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

(2009) Alexandre Janer et al.   HUMAN MOLECULAR GENETICS

Unusual Retinal Phenotypes in an SCA7 Family

(2009) Hirofumi Inaba et al.   INTERNAL MEDICINE

Two Patients With Spinocerebellar Ataxia Type 7 Presenting With Profound Binocular Visual Loss Yet Minimal Ophthalmoscopic Findings

(2009) Matthew J Thurtell et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

Ophthalmic Features of Spinocerebellar Ataxia Type 7

(2009) Roslyn K Manrique et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

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

A synergistic small-molecule combination directly eradicates diverse prion strain structures

(2009) Blake E Roberts et al.   Nature Chemical Biology

Polyglutamine-expanded ataxin-7 causes cerebellar dysfunction by inducing transcriptional dysregulation

(2009) An-Hsun Chou et al.   NEUROCHEMISTRY INTERNATIONAL

Macular Dysfunction and Morphology in Spinocerebellar Ataxia Type 7 (SCA 7)

(2009) Therése Hugosson et al.   OPHTHALMIC GENETICS

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

Proteomic and oxidative stress analysis in human brain samples of Huntington disease

(2008) M Alba Sorolla et al.   FREE RADICAL BIOLOGY AND MEDICINE

Mechanism of Ceftriaxone Induction of Excitatory Amino Acid Transporter-2 Expression and Glutamate Uptake in Primary Human Astrocytes

(2008) Seok-Geun Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2008) Alwin Köhler et al.   NATURE CELL BIOLOGY

The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7

(2008) J. R. Gatchel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairments

(2007) U. Rüb et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY