Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias

Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes

(2014) Daniel J. Klionsky et al.   Autophagy

Mitochondrial Ataxias

(2014) Josef Finsterer   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6

(2013) Kathrin Reetz et al.   BRAIN

Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability

(2013) Karen N McFarland et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1

(2013) Ivelisse Sánchez et al.   HUMAN MOLECULAR GENETICS

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

New Subtype of Spinocerebellar Ataxia With Altered Vertical Eye Movements Mapping to Chromosome 1p32

(2013) Carmen Serrano-Munuera et al.   JAMA Neurology

Pharmacological Tuning of Heat Shock Protein 70 Modulates Polyglutamine Toxicity and Aggregation

(2012) Sidhartha M. Chafekar et al.   ACS Chemical Biology

Brain pathology of spinocerebellar ataxias

(2012) Kay Seidel et al.   ACTA NEUROPATHOLOGICA

Mutations in potassium channelkcnd3cause spinocerebellar ataxia type 19

(2012) Anna Duarri et al.   ANNALS OF NEUROLOGY

Mutations inKCND3cause spinocerebellar ataxia type 22

(2012) Yi-Chung Lee et al.   ANNALS OF NEUROLOGY

Neuron-to-neuron transmission of α-synuclein fibrils through axonal transport

(2012) Eric C. Freundt et al.   ANNALS OF NEUROLOGY

An evaluation of oligonucleotide-based therapeutic strategies for polyQ diseases

(2012) Agnieszka Fiszer et al.   BMC MOLECULAR BIOLOGY

Calpastatin-mediated inhibition of calpains in the mouse brain prevents mutant ataxin 3 proteolysis, nuclear localization and aggregation, relieving Machado-Joseph disease

(2012) A. T. Simoes et al.   BRAIN

The Ever Expanding Spinocerebellar Ataxias. Editorial

(2012) Antoni Matilla-Dueñas   CEREBELLUM

Selective Positive Modulator of Calcium-Activated Potassium Channels Exerts Beneficial Effects in a Mouse Model of Spinocerebellar Ataxia Type 2

(2012) Adebimpe W. Kasumu et al.   CHEMISTRY & BIOLOGY

Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family

(2012) M Li et al.   CLINICAL GENETICS

ATP1A3mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia

(2012) ALLISON BRASHEAR et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models

(2012) A. Martelli et al.   Disease Models & Mechanisms

Mitochondrial quality control: a matter of life and death for neurons

(2012) Elena I Rugarli et al.   EMBO JOURNAL

Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation

(2012) F. Maltecca et al.   HUMAN MOLECULAR GENETICS

Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3)

(2012) J. Hubener et al.   HUMAN MOLECULAR GENETICS

A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult

(2012) K. E. Hekman et al.   HUMAN MOLECULAR GENETICS

Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2

(2012) S. T. Hansen et al.   HUMAN MOLECULAR GENETICS

Aggregate Clearance of α-Synuclein inSaccharomyces cerevisiaeDepends More on Autophagosome and Vacuole Function Than on the Proteasome

(2012) Doris Petroi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cell biology of spinocerebellar ataxia

(2012) Harry T. Orr   JOURNAL OF CELL BIOLOGY

A Review of Friedreich Ataxia Clinical Trial Results

(2012) Susan L. Perlman   JOURNAL OF CHILD NEUROLOGY

AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival

(2012) Eva R. Almajan et al.   JOURNAL OF CLINICAL INVESTIGATION

Propagation of the Prion Phenomenon: Beyond the Seeding Principle

(2012) Christian Münch et al.   JOURNAL OF MOLECULAR BIOLOGY

Differential Degradation of Full-length and Cleaved Ataxin-7 Fragments in a Novel Stable Inducible SCA7 Model

(2012) Xin Yu et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Chronic Suppression of Inositol 1,4,5-Triphosphate Receptor-Mediated Calcium Signaling in Cerebellar Purkinje Cells Alleviates Pathological Phenotype in Spinocerebellar Ataxia 2 Mice

(2012) A. W. Kasumu et al.   JOURNAL OF NEUROSCIENCE

Voltage-gated potassium channels and the diversity of electrical signalling

(2012) Lily Yeh Jan et al.   JOURNAL OF PHYSIOLOGY-LONDON

A0001 in Friedreich ataxia: Biochemical characterization and effects in a clinical trial

(2012) David R. Lynch et al.   MOVEMENT DISORDERS

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

(2012) Erin L Heinzen et al.   NATURE GENETICS

Large-Scale Screen for Modifiers of Ataxin-3-Derived Polyglutamine-Induced Toxicity in Drosophila

(2012) Hannes Voßfeldt et al.   PLoS One

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

(2012) M. Girard et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

(2012) G. Zanni et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Control of Nonapoptotic Developmental Cell Death in Caenorhabditis elegans by a Polyglutamine-Repeat Protein

(2012) E. S. Blum et al.   SCIENCE

PolyQ disease: misfiring of a developmental cell death program?

(2012) Elyse S. Blum et al.   TRENDS IN CELL BIOLOGY

Abnormal accumulation of autophagic vesicles correlates with axonal and synaptic pathology in young Alzheimer’s mice hippocampus

(2011) Raquel Sanchez-Varo et al.   ACTA NEUROPATHOLOGICA

Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement

(2011) Hatasu Kobayashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutant ataxin-3 promotes the autophagic degradation of parkin

(2011) Thomas M. Durcan et al.   Autophagy

Overexpression of the autophagic beclin-1 protein clears mutant ataxin-3 and alleviates Machado–Joseph disease

(2011) Isabel Nascimento-Ferreira et al.   BRAIN

N-terminal ataxin-3 causes neurological symptoms with inclusions, endoplasmic reticulum stress and ribosomal dislocation

(2011) Jeannette Hübener et al.   BRAIN

Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures

(2011) Saeko Ishida et al.   BRAIN RESEARCH

Friedreich's ataxia: Past, present and future

(2011) Daniele Marmolino   BRAIN RESEARCH REVIEWS

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

(2011) W. Scherzed et al.   CEREBELLUM

Defects in mitochondrial DNA replication and human disease

(2011) William C. Copeland   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

A new chapter in the transcription SAGA

(2011) Nadine L Samara et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Polyglutamine Atrophin provokes neurodegeneration inDrosophilaby repressingfat

(2011) Francesco Napoletano et al.   EMBO JOURNAL

Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway

(2011) Xin Tong et al.   EMBO REPORTS

ATXN-2 CAG repeat expansions are interrupted in ALS patients

(2011) Lucia Corrado et al.   HUMAN GENETICS

Genetic therapy for the nervous system

(2011) W. J. Bowers et al.   HUMAN MOLECULAR GENETICS

FOXO4-dependent upregulation of superoxide dismutase-2 in response to oxidative stress is impaired in spinocerebellar ataxia type 3

(2011) Julieta Araujo 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

Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model

(2011) Kristin M. Gehrking et al.   HUMAN MOLECULAR GENETICS

A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression

(2011) Daniel W. Chung et al.   HUMAN MOLECULAR GENETICS

Mitochondrial Dysfunction and Oxidative Stress Contribute to the Pathogenesis of Spinocerebellar Ataxia Type 12 (SCA12)

(2011) Yu-Chun Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Model Organisms Reveal Insight into Human Neurodegenerative Disease: Ataxin-2 Intermediate-Length Polyglutamine Expansions Are a Risk Factor for ALS

(2011) Nancy M. Bonini et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Aminopyridines Correct Early Dysfunction and Delay Neurodegeneration in a Mouse Model of Spinocerebellar Ataxia Type 1

(2011) R. Hourez et al.   JOURNAL OF NEUROSCIENCE

Early Changes in Cerebellar Physiology Accompany Motor Dysfunction in the Polyglutamine Disease Spinocerebellar Ataxia Type 3

(2011) V. G. Shakkottai et al.   JOURNAL OF NEUROSCIENCE

Transgenic mice with SCA10 pentanucleotide repeats show motor phenotype and susceptibility to seizure: A toxic RNA gain-of-function model

(2011) Misti White et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Splice isoform-specific suppression of the CaV2.1 variant underlying spinocerebellar ataxia type 6

(2011) Wei-Ling Tsou et al.   NEUROBIOLOGY OF DISEASE

Cerebellar defects in Pdss2 conditional knockout mice during embryonic development and in adulthood

(2011) Song Lu et al.   NEUROBIOLOGY OF DISEASE

Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians

(2011) K. Ishikawa et al.   NEUROLOGY

The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: A 2-year follow-up study

(2011) H. Jacobi et al.   NEUROLOGY

Mitochondria: The Next (Neurode)Generation

(2011) Eric A. Schon et al.   NEURON

CAG repeats mimic CUG repeats in the misregulation of alternative splicing

(2011) Agnieszka Mykowska et al.   NUCLEIC ACIDS RESEARCH

PolyQ Repeat Expansions in ATXN2 Associated with ALS Are CAA Interrupted Repeats

(2011) Zhenming Yu et al.   PLoS One

Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13)

(2011) Karla P. Figueroa et al.   PLoS One

Aprataxin localizes to mitochondria and preserves mitochondrial function

(2011) P. Sykora et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Toward understanding Machado–Joseph disease

(2011) Maria do Carmo Costa et al.   PROGRESS IN NEUROBIOLOGY

Exercise and Genetic Rescue of SCA1 via the Transcriptional Repressor Capicua

(2011) J. D. Fryer et al.   SCIENCE

Repeat Associated Non-ATG Translation Initiation: One DNA, Two Transcripts, Seven Reading Frames, Potentially Nine Toxic Entities!

(2011) Christopher E. Pearson   PLoS Genetics

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

(2011) Tyler Mark Pierson et al.   PLoS Genetics

Genomic and clinical characteristics of microduplications in chromosome 17

(2010) Oleg A. Shchelochkov et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

(2010) Jun Ling Wang et al.   BRAIN

Activity-dependent calcium signaling and ERK-MAP kinases in neurons: A link to structural plasticity of the nucleus and gene transcription regulation

(2010) J. Simon Wiegert et al.   CELL CALCIUM

Deranged Calcium Signaling in Purkinje Cells and Pathogenesis in Spinocerebellar Ataxia 2 (SCA2) and Other Ataxias

(2010) Adebimpe Kasumu et al.   CEREBELLUM

Heat Shock Proteins as Suppressors of Accumulation of Toxic Prefibrillar Intermediates and Misfolded Proteins in Neurodegenerative Diseases

(2010) Shigeki Arawaka et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

Heat Shock Proteins: Therapeutic Drug Targets for Chronic Neurodegeneration?

(2010) M. Sajjad et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

(2010) Chantal Sellier et al.   EMBO JOURNAL

Alternative cell death mechanisms in development and beyond

(2010) J. Yuan et al.   GENES & DEVELOPMENT

The CAG repeat in SCA12 functions as a cis element to up-regulate PPP2R2B expression

(2010) Chih-Hsin Lin et al.   HUMAN GENETICS

Partners in crime: bidirectional transcription in unstable microsatellite disease

(2010) R. Batra et al.   HUMAN MOLECULAR GENETICS

The KRAB-containing zinc-finger transcriptional regulator ZBRK1 activates SCA2 gene transcription through direct interaction with its gene product, ataxin-2

(2010) L. Hallen et al.   HUMAN MOLECULAR GENETICS

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

(2010) Claudia Braida et al.   HUMAN MOLECULAR GENETICS

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

(2010) Claudia Cagnoli et al.   HUMAN MUTATION

The Rapid-onset Dystonia Parkinsonism Mutation D923N of the Na+,K+-ATPase α3 Isoform Disrupts Na+Interaction at the Third Na+Site

(2010) Anja Pernille Einholm et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Molecular Interplay between Mammalian Target of Rapamycin (mTOR), Amyloid-β, and Tau

(2010) Antonella Caccamo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

α-Synuclein impairs macroautophagy: implications for Parkinson’s disease

(2010) Ashley R. Winslow et al.   JOURNAL OF CELL BIOLOGY

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

(2010) Alexandra Durr   LANCET NEUROLOGY

Huntington's disease: from molecular pathogenesis to clinical treatment

(2010) Christopher A Ross et al.   LANCET NEUROLOGY

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy

(2010) Mike Gerards et al.   MITOCHONDRION

Long-term effects of coordinative training in degenerative cerebellar disease

(2010) Winfried Ilg et al.   MOVEMENT DISORDERS

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

(2010) Andrew C. Elden et al.   NATURE

Harnessing chaperone-mediated autophagy for the selective degradation of mutant huntingtin protein

(2010) Peter O Bauer et al.   NATURE BIOTECHNOLOGY

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

(2010) Daniela Di Bella et al.   NATURE GENETICS

Cargo recognition failure is responsible for inefficient autophagy in Huntington's disease

(2010) Marta Martinez-Vicente et al.   NATURE NEUROSCIENCE

HDAC inhibitor sodium butyrate reverses transcriptional downregulation and ameliorates ataxic symptoms in a transgenic mouse model of SCA3

(2010) An-Hsun Chou et al.   NEUROBIOLOGY OF DISEASE

Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan

(2010) Haruya Sakai et al.   NEUROGENETICS

Regulation of Mammalian Autophagy in Physiology and Pathophysiology

(2010) Brinda Ravikumar et al.   PHYSIOLOGICAL REVIEWS

Two New Pimelic Diphenylamide HDAC Inhibitors Induce Sustained Frataxin Upregulation in Cells from Friedreich's Ataxia Patients and in a Mouse Model

(2010) Myriam Rai et al.   PLoS One

Inhibition of mTOR by Rapamycin Abolishes Cognitive Deficits and Reduces Amyloid-β Levels in a Mouse Model of Alzheimer's Disease

(2010) Patricia Spilman et al.   PLoS One

Role of tyrosyl-DNA phosphodiesterase (TDP1) in mitochondria

(2010) B. B. Das et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Non-ATG-initiated translation directed by microsatellite expansions

(2010) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2010) Stephanie Schorge et al.   TRENDS IN NEUROSCIENCES

Partial Loss of Ataxin-1 Function Contributes to Transcriptional Dysregulation in Spinocerebellar Ataxia Type 1 Pathogenesis

(2010) Juan Crespo-Barreto et al.   PLoS Genetics

Histone Deacetylases Suppress CGG Repeat–Induced Neurodegeneration Via Transcriptional Silencing in Models of Fragile X Tremor Ataxia Syndrome

(2010) Peter K. Todd et al.   PLoS Genetics

Inactivation of hnRNP K by Expanded Intronic AUUCU Repeat Induces Apoptosis Via Translocation of PKCδ to Mitochondria in Spinocerebellar Ataxia 10

(2010) Misti C. White et al.   PLoS Genetics

Induction of heat shock proteins for protection against oxidative stress

(2009) Bernadett Kalmar et al.   ADVANCED DRUG DELIVERY REVIEWS

IFRD1 Is a Candidate Gene for SMNA on Chromosome 7q22-q23

(2009) Zoran Brkanac et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n

(2009) Nozomu Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human CoQ10deficiencies

(2009) C. M. Quinzii et al.   BIOFACTORS

Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci

(2009) I-Cheng Chen et al.   BMC MOLECULAR BIOLOGY

Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3

(2009) Fiona M. Menzies et al.   BRAIN

Cellular and Molecular Pathways Triggering Neurodegeneration in the Spinocerebellar Ataxias

(2009) Antoni Matilla-Dueñas et al.   CEREBELLUM

Chemical Probes Identify a Role for Histone Deacetylase 3 in Friedreich's Ataxia Gene Silencing

(2009) Chunping Xu et al.   CHEMISTRY & BIOLOGY

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

(2009) Alexandre Janer et al.   HUMAN MOLECULAR GENETICS

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients

(2009) Karla P. Figueroa et al.   HUMAN MUTATION

ULK1·ATG13·FIP200 Complex Mediates mTOR Signaling and Is Essential for Autophagy

(2009) Ian G. Ganley et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

(2009) Jeong-Sun Ju et al.   JOURNAL OF CELL BIOLOGY

The pathogenesis of Friedreich ataxia and the structure and function of frataxin

(2009) Massimo Pandolfo et al.   JOURNAL OF NEUROLOGY

Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss

(2009) F Spaans et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 2

(2009) J. Liu et al.   JOURNAL OF NEUROSCIENCE

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

Haploinsufficiency of AFG3L2, the Gene Responsible for Spinocerebellar Ataxia Type 28, Causes Mitochondria-Mediated Purkinje Cell Dark Degeneration

(2009) F. Maltecca et al.   JOURNAL OF NEUROSCIENCE

Beclin 1 Gene Transfer Activates Autophagy and Ameliorates the Neurodegenerative Pathology in  -Synuclein Models of Parkinson's and Lewy Body Diseases

(2009) B. Spencer et al.   JOURNAL OF NEUROSCIENCE

Introducing the acetylome

(2009) Karen T Smith et al.   NATURE BIOTECHNOLOGY

Cytoplasmic penetration and persistent infection of mammalian cells by polyglutamine aggregates

(2009) Pei-Hsien Ren et al.   NATURE CELL BIOLOGY

A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeats

(2009) Jana Boy et al.   NEUROBIOLOGY OF DISEASE

Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10

(2009) Boris Keren et al.   NEUROGENETICS

Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6

(2009) Jörg B. Schulz et al.   NEUROIMAGE

Intensive coordinative training improves motor performance in degenerative cerebellar disease

(2009) W. Ilg et al.   NEUROLOGY

Mitochondrial Dynamics in Mammalian Health and Disease

(2009) Marc Liesa et al.   PHYSIOLOGICAL REVIEWS

Design of RNAi Hairpins for Mutation-Specific Silencing of Ataxin-7 and Correction of a SCA7 Phenotype

(2009) Janine Scholefield et al.   PLoS One

Phosphorylation of S776 and 14-3-3 Binding Modulate Ataxin-1 Interaction with Splicing Factors

(2009) Cesira de Chiara et al.   PLoS One

Autophagy activation and enhanced mitophagy characterize the Purkinje cells of pcd mice prior to neuronal death

(2009) Lisa Chakrabarti et al.   Molecular Brain

RNA Gain-of-Function in Spinocerebellar Ataxia Type 8

(2009) Randy S. Daughters et al.   PLoS Genetics

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

(2008) Clotilde Lagier-Tourenne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial Disorders in the Nervous System

(2008) Salvatore DiMauro et al.   Annual Review of Neuroscience

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

(2008) David Nonis et al.   CELLULAR SIGNALLING

Magnetic resonance imaging in spinocerebellar ataxias

(2008) Susanne Döhlinger et al.   CEREBELLUM

SCA13

(2008) M. F. Waters et al.   CEREBELLUM

Bidirectional expression of the SCA8 expansion mutation: One mutation, two genes

(2008) Yoshio Ikeda et al.   CEREBELLUM

Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1

(2008) Antoni Matilla-Dueñas et al.   CEREBELLUM

Spinocerebellar ataxia 2 (SCA2)

(2008) Isabel Lastres-Becker et al.   CEREBELLUM

Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21)

(2008) J. Delplanque et al.   CEREBELLUM

Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis

(2008) Caterina Mariotti et al.   CEREBELLUM

Quality control of mitochondria: protection against neurodegeneration and ageing

(2008) Takashi Tatsuta et al.   EMBO JOURNAL

Steroid-induced improvement of neurological signs in ataxia-telangiectasia patients

(2008) T. Broccoletti et al.   EUROPEAN JOURNAL OF NEUROLOGY

FXTAS: a bad RNA and a hope for a cure

(2008) Ge Shan et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20

(2008) M. A. Knight et al.   HUMAN MOLECULAR GENETICS

Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations

(2008) Lee-Jun C. Wong et al.   HUMAN MUTATION

The transactivation domain of heterogeneous nuclear ribonucleoprotein K overlaps its nuclear shuttling domain

(2008) James Yi-Hsin Chan et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

The Spinocerebellar Ataxia 12 Gene Product and Protein Phosphatase 2A Regulatory Subunit Bβ2 Antagonizes Neuronal Survival by Promoting Mitochondrial Fission

(2008) Ruben K. Dagda et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A new dominantly inherited pure cerebellar ataxia, SCA 30

(2008) E Storey et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A Comparison of Huntington Disease and Huntington Disease-Like 2 Neuropathology

(2008) Dobrila D. Rudnicki et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 3

(2008) X. Chen et al.   JOURNAL OF NEUROSCIENCE

Spinocerebellar ataxias types 1, 2 and 3: Age adjusted clinical severity of disease at presentation correlates with size of CAG repeat lengths

(2008) M. Netravathi et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

(2008) Janghoo Lim et al.   NATURE

Novel targets for Huntington's disease in an mTOR-independent autophagy pathway

(2008) Andrea Williams et al.   Nature Chemical Biology

miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis

(2008) Yoontae Lee et al.   NATURE NEUROSCIENCE

Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations

(2008) Margherita Milone et al.   NEUROMUSCULAR DISORDERS

Long intronic GAA•TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia

(2008) E. Soragni et al.   NUCLEIC ACIDS RESEARCH

HDAC Inhibitors Correct Frataxin Deficiency in a Friedreich Ataxia Mouse Model

(2008) Myriam Rai et al.   PLoS One

Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels

(2008) K. Watase et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Polyglutamine neurodegeneration: protein misfolding revisited

(2008) Aislinn J. Williams et al.   TRENDS IN NEUROSCIENCES

Drug Insight: antioxidant therapy in inherited ataxias

(2008) Massimo Pandolfo   Nature clinical practice. Neurology

Polyglutamine Genes Interact to Modulate the Severity and Progression of Neurodegeneration in Drosophila

(2008) Derek Lessing et al.   PLOS BIOLOGY

CTCF cis-Regulates Trinucleotide Repeat Instability in an Epigenetic Manner: A Novel Basis for Mutational Hot Spot Determination

(2008) Randell T. Libby et al.   PLoS Genetics