Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1

Cerebellar ataxia and severe muscle CoQ10deficiency in a patient with a novel mutation inADCK3

(2016) E. Barca et al.   CLINICAL GENETICS

Mitochondrial impairments contribute to Spinocerebellar ataxia type 1 progression and can be ameliorated by the mitochondria-targeted antioxidant MitoQ

(2016) David M. Stucki et al.   FREE RADICAL BIOLOGY AND MEDICINE

Ataxin-1 regulates the cerebellar bioenergetics proteome through the GSK3β-mTOR pathway which is altered in Spinocerebellar ataxia type 1 (SCA1)

(2016) Ivelisse Sánchez et al.   HUMAN MOLECULAR GENETICS

Gene, Stem Cell, and Alternative Therapies for SCA 1

(2016) Jacob L. Wagner et al.   Frontiers in Molecular Neuroscience

Altered age-related changes in bioenergetic properties and mitochondrial morphology in fibroblasts from sporadic amyotrophic lateral sclerosis patients

(2015) Scott P. Allen et al.   NEUROBIOLOGY OF AGING

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy

(2015) Lorenzo Peverelli et al.   NEUROLOGY

Quantitative Interaction Proteomics of Neurodegenerative Disease Proteins

(2015) Fabian Hosp et al.   Cell Reports

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy

(2015) Michela Ripolone et al.   JAMA Neurology

HMGB1 facilitates repair of mitochondrial DNA damage and extends the lifespan of mutant ataxin-1 knock-in mice

(2014) H. Ito et al.   EMBO Molecular Medicine

SCA1—Phosphorylation, a regulator of Ataxin-1 function and pathogenesis

(2012) Harry T. Orr   PROGRESS IN NEUROBIOLOGY

Adult-onset cerebellar ataxia due to mutations inCABC1/ADCK3

(2011) Rita Horvath et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2010) Daniela Di Bella et al.   NATURE GENETICS

Mitochondrial dynamics-fusion, fission, movement, and mitophagy-in neurodegenerative diseases

(2009) H. Chen et al.   HUMAN MOLECULAR GENETICS

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

Mitochondrial Disorders in the Nervous System

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

Pathogenic Mechanisms of a Polyglutamine-mediated Neurodegenerative Disease, Spinocerebellar Ataxia Type 1

(2008) Huda Y. Zoghbi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY