Polyglutamine (PolyQ) Diseases: Genetics to Treatments

Therapeutic induction of autophagy to modulate neurodegenerative disease progression

(2013) Warren E Hochfeld et al.   ACTA PHARMACOLOGICA SINICA

Pharmacological protein targets in polyglutamine diseases: Mutant polypeptides and their interactors

(2013) Boris A. Margulis et al.   FEBS LETTERS

Preclinical Assessment of Stem Cell Therapies for Neurological Diseases

(2013) V. L. Joers et al.   ILAR JOURNAL

Enhanced Aggregation of Androgen Receptor in Induced Pluripotent Stem Cell-derived Neurons from Spinal and Bulbar Muscular Atrophy

(2013) Yoshihiro Nihei et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Induced Pluripotent Stem Cells from Patients with Huntington's Disease Show CAG-Repeat-Expansion-Associated Phenotypes

(2012) The HD iPSC Consortium   Cell Stem Cell

Genetic Correction of Huntington's Disease Phenotypes in Induced Pluripotent Stem Cells

(2012) Mahru C. An et al.   Cell Stem Cell

Impaired Heat Shock Response in Cells Expressing Full-Length Polyglutamine-Expanded Huntingtin

(2012) Sidhartha M. Chafekar et al.   PLoS One

Pathogenesis and therapy of spinal and bulbar muscular atrophy (SBMA)

(2012) Masahisa Katsuno et al.   PROGRESS IN NEUROBIOLOGY

Current Status of Treatment of Spinal and Bulbar Muscular Atrophy

(2012) Fumiaki Tanaka et al.   NEURAL PLASTICITY

MRI Shows a Region-Specific Pattern of Atrophy in Spinocerebellar Ataxia Type 2

(2011) Brian C. Jung et al.   CEREBELLUM

FAT10 Protein Binds to Polyglutamine Proteins and Modulates Their Solubility

(2011) Yu Nagashima et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Induction of autophagy with catalytic mTOR inhibitors reduces huntingtin aggregates in a neuronal cell model

(2011) Ana Roscic et al.   JOURNAL OF NEUROCHEMISTRY

Milestones in Huntington disease

(2011) Ira Shoulson et al.   MOVEMENT DISORDERS

Subclinical autonomic dysfunction in spinobulbar muscular atrophy (Kennedy disease)

(2011) Camilla Rocchi et al.   MUSCLE & NERVE

Evaluation of spinal and bulbar muscular atrophy by the clustering index method

(2011) Mana Higashihara et al.   MUSCLE & NERVE

An Antisense CAG Repeat Transcript at JPH3 Locus Mediates Expanded Polyglutamine Protein Toxicity in Huntington's Disease-like 2 Mice

(2011) Brian Wilburn et al.   NEURON

Cellular Therapy and Induced Neuronal Replacement for Huntington’s Disease

(2011) Abdellatif Benraiss et al.   Neurotherapeutics

Huntington's disease: a clinical review

(2011) Raymund A.C. Roos   Orphanet Journal of Rare Diseases

Targeting Several CAG Expansion Diseases by a Single Antisense Oligonucleotide

(2011) Melvin M. Evers et al.   PLoS One

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

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

Autophagy and polyglutamine diseases

(2011) Maria Jimenez-Sanchez et al.   PROGRESS IN NEUROBIOLOGY

Culture media for the differentiation of mesenchymal stromal cells

(2010) Corina Vater et al.   Acta Biomaterialia

Clinical features and natural history of spinocerebellar ataxia type 1

(2010) H. Sasaki et al.   ACTA NEUROLOGICA SCANDINAVICA

Autophagy and misfolded proteins in neurodegeneration

(2010) Daniel J. Metcalf et al.   EXPERIMENTAL NEUROLOGY

Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation

(2010) Anna Seriola et al.   HUMAN MOLECULAR GENETICS

Disrupted Transforming Growth Factor-  Signaling in Spinal and Bulbar Muscular Atrophy

(2010) M. Katsuno et al.   JOURNAL OF NEUROSCIENCE

Perspectives of Kennedy's disease

(2010) J. Finsterer   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

Direct conversion of fibroblasts to functional neurons by defined factors

(2010) Thomas Vierbuchen et al.   NATURE

Mesenchymal stem cells rescue Purkinje cells and improve motor functions in a mouse model of cerebellar ataxia

(2010) Jonathan Jones et al.   NEUROBIOLOGY OF DISEASE

Cystamine and intrabody co-treatment confers additional benefits in a fly model of Huntington's disease

(2010) S.F. Bortvedt et al.   NEUROBIOLOGY OF DISEASE

Nationwide Population-Based Epidemiologic Study of Huntington’s Disease in Taiwan

(2010) Yen-Yu Chen et al.   NEUROEPIDEMIOLOGY

Molecular Mechanisms and Potential Therapeutical Targets in Huntington's Disease

(2010) Chiara Zuccato et al.   PHYSIOLOGICAL REVIEWS

A Long-Term Follow-Up Study of Intravenous Autologous Mesenchymal Stem Cell Transplantation in Patients With Ischemic Stroke

(2010) Jin Soo Lee et al.   STEM CELLS

Sustained effects of nonallele-specificHuntingtinsilencing

(2009) Valérie Drouet et al.   ANNALS OF NEUROLOGY

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

Parkinson's Disease Patient-Derived Induced Pluripotent Stem Cells Free of Viral Reprogramming Factors

(2009) Frank Soldner et al.   CELL

New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado–Joseph disease)

(2009) Udo Rüb et al.   CURRENT OPINION IN NEUROLOGY

Mesenchymal stem cell transplantation in amyotrophic lateral sclerosis: A Phase I clinical trial

(2009) L. Mazzini et al.   EXPERIMENTAL NEUROLOGY

Activation of Gene Transcription by Heat Shock Protein 27 May Contribute to Its Neuronal Protection

(2009) Meyer J. Friedman et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies

(2009) Peter O. Bauer et al.   JOURNAL OF NEUROCHEMISTRY

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 2

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

Grafting Neural Precursor Cells Promotes Functional Recovery in an SCA1 Mouse Model

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

Spinocerebellar ataxia type 6 (SCA6): Clinical pilot trial with gabapentin

(2009) Katsuya Nakamura et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Postural tremor in X-linked spinal and bulbar muscular atrophy

(2009) Ritsuko Hanajima et al.   MOVEMENT DISORDERS

Standard and modified statistical mune evaluations in spinal-bulbar muscular atrophy

(2009) Tanya J. Lehky et al.   MUSCLE & NERVE

Serum creatine kinase levels in spinobulbar muscular atrophy and amyotrophic lateral sclerosis

(2009) Nizar Chahin et al.   MUSCLE & NERVE

Are cognitive and behavioural deficits a part of the clinical picture in Kennedy's disease? A case study

(2009) Dagmara Mirowska-Guzel et al.   NEUROCASE

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

Spinocerebellar ataxia type 6 (SCA6): neurodegeneration goes beyond the known brain predilection sites

(2009) K. Gierga et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Open-labeled study of unilateral autologous bone-marrow-derived mesenchymal stem cell transplantation in Parkinson's disease

(2009) Neelam K. Venkataramana et al.   Translational Research

Disease-Specific Induced Pluripotent Stem Cells

(2008) In-Hyun Park et al.   CELL

Sporadic ataxias in Japan – a population-based epidemiological study

(2008) Shoji Tsuji et al.   CEREBELLUM

Spinocerebellar ataxia 17 (SCA17) and Huntington’s disease-like 4 (HDL4)

(2008) Giovanni Stevanin et al.   CEREBELLUM

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

(2008) Antoni Matilla-Dueñas et al.   CEREBELLUM

Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice

(2008) Toshiya Sato et al.   HUMAN MOLECULAR GENETICS

Polyglutamine Expansion Reduces the Association of TATA-binding Protein with DNA and Induces DNA Binding-independent Neurotoxicity

(2008) Meyer J. Friedman et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Analysis of segregation patterns in Machado–Joseph disease pedigrees

(2008) Conceição Bettencourt et al.   JOURNAL OF HUMAN GENETICS

Long-term clinical and positron emission tomography outcome of fetal striatal transplantation in Huntington's disease

(2008) I Reuter et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Induced pluripotent stem cells from a spinal muscular atrophy patient

(2008) Allison D. Ebert et al.   NATURE

Weight loss in Huntington disease increases with higher CAG repeat number

(2008) N. A. Aziz et al.   NEUROLOGY

Induced Pluripotent Stem Cells Generated from Patients with ALS Can Be Differentiated into Motor Neurons

(2008) J. T. Dimos et al.   SCIENCE