Related references
Note: Only part of the references are listed.Deregulation of autophagy in postmortem brains of Machado-Joseph disease patients
Annie Sittler et al.
NEUROPATHOLOGY (2018)
Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model
Lodewijk J. A. Toonen et al.
MOLECULAR NEURODEGENERATION (2018)
Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration
Julien Branchu et al.
NEUROBIOLOGY OF DISEASE (2017)
Neuronal Cholesterol Accumulation Induced by Cyp46a1 Down-Regulation in Mouse Hippocampus Disrupts Brain Lipid Homeostasis
Sophie Ayciriex et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2017)
Cholesterol 24-hydroxylase: Brain cholesterol metabolism and beyond
Miguel Moutinho et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2016)
CYP46A1, the rate-limiting enzyme for cholesterol degradation, is neuroprotective in Huntington's disease
Lydie Boussicault et al.
BRAIN (2016)
Cre-dependent selection yields AAV variants for widespread gene transfer to the adult brain
Benjamin E. Deverman et al.
NATURE BIOTECHNOLOGY (2016)
Caloric restriction blocks neuropathology and motor deficits in Machado-Joseph disease mouse models through SIRT1 pathway
Janete Cunha-Santos et al.
NATURE COMMUNICATIONS (2016)
AAV9-mediated central nervous system-targeted gene delivery via cisterna magna route in mice
Vera Lukashchuk et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2016)
Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment
Isabel Onofre et al.
SCIENTIFIC REPORTS (2016)
Re-establishing ataxin-2 downregulates translation of mutant ataxin-3 and alleviates Machado-Joseph disease
Clevio Nobrega et al.
BRAIN (2015)
Structural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich's ataxia
Maria R. Stefanescu et al.
BRAIN (2015)
CYP46A1 inhibition, brain cholesterol accumulation and neurodegeneration pave the way for Alzheimer's disease
Fathia Djelti et al.
BRAIN (2015)
Cholesterol 24-hydroxylase defect is implicated in memory impairments associated with Alzheimer-like Tau pathology
Marie-Anne Burlot et al.
HUMAN MOLECULAR GENETICS (2015)
Autophagy in polyglutamine disease: Imposing order on disorder or contributing to the chaos?
Constanza J. Cortes et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2015)
Widespread and Efficient Transduction of Spinal Cord and Brain Following Neonatal AAV Injection and Potential Disease Modifying Effect in ALS Mice
Jacob I. Ayers et al.
MOLECULAR THERAPY (2015)
Compromised autophagy and neurodegenerative diseases
Fiona M. Menzies et al.
NATURE REVIEWS NEUROSCIENCE (2015)
Neuropeptide Y stimulates autophagy in hypothalamic neurons
Celia A. Aveleira et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Intracerebral Gene Therapy Using AAVrh.10-hARSA Recombinant Vector to Treat Patients with Early-Onset Forms of Metachromatic Leukodystrophy: Preclinical Feasibility and Safety Assessments in Nonhuman Primates
Michel Zerah et al.
HUMAN GENE THERAPY CLINICAL DEVELOPMENT (2015)
Transplantation of cerebellar neural stem cells improves motor coordination and neuropathology in Machado-Joseph disease mice
Liliana S. Mendonca et al.
BRAIN (2015)
The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice
Sandro Alves et al.
ACTA NEUROPATHOLOGICA (2014)
Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias
A. Matilla-Duenas et al.
CEREBELLUM (2014)
Cholesterol in brain disease: sometimes determinant and frequently implicated
Mauricio G. Martin et al.
EMBO REPORTS (2014)
RNA Interference Mitigates Motor and Neuropathological Deficits in a Cerebellar Mouse Model of Machado-Joseph Disease
Clevio Nobrega et al.
PLOS ONE (2014)
Ubiquitin-binding site 2 of ataxin-3 prevents its proteasomal degradation by interacting with Rad23
Jessica R. Blount et al.
NATURE COMMUNICATIONS (2014)
Biodistribution of adeno-associated virus serotype 9 (AAV9) vector after intrathecal and intravenous delivery in mouse
Daniel J. Schuster et al.
FRONTIERS IN NEUROANATOMY (2014)
Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6
Kathrin Reetz et al.
BRAIN (2013)
Beclin 1 mitigates motor and neuropathological deficits in genetic mouse models of Machado-Joseph disease
Isabel Nascimento-Ferreira et al.
BRAIN (2013)
Overexpression of Mutant Ataxin-3 in Mouse Cerebellum Induces Ataxia and Cerebellar Neuropathology
Clevio Nobrega et al.
CEREBELLUM (2013)
Pathoanatomy of Cerebellar Degeneration in Spinocerebellar Ataxia Type 2 (SCA2) and Type 3 (SCA3)
W. Scherzed et al.
CEREBELLUM (2012)
Dysregulation of cholesterol balance in the brain: contribution to neurodegenerative diseases
Jean E. Vance
DISEASE MODELS & MECHANISMS (2012)
Cholesterol loss during glutamate-mediated excitotoxicity
Alejandro O. Sodero et al.
EMBO JOURNAL (2012)
Adeno-Associated Virus Serotype 9 Transduction in the Central Nervous System of Nonhuman Primates
Lluis Samaranch et al.
HUMAN GENE THERAPY (2012)
Overexpression of the autophagic beclin-1 protein clears mutant ataxin-3 and alleviates Machado-Joseph disease
Isabel Nascimento-Ferreira et al.
BRAIN (2011)
Regulation of tyrosine kinase B activity by the Cyp46/cholesterol loss pathway in mature hippocampal neurons: relevance for neuronal survival under stress and in aging
Alejandro O. Sodero et al.
JOURNAL OF NEUROCHEMISTRY (2011)
Silencing ataxin-3 mitigates degeneration in a rat model of Machado-Joseph disease: no role for wild-type ataxin-3?
Sandro Alves et al.
HUMAN MOLECULAR GENETICS (2010)
Genetic connections between neurological disorders and cholesterol metabolism
Ingemar Bjorkhem et al.
JOURNAL OF LIPID RESEARCH (2010)
Adeno-associated Virus Gene Therapy With Cholesterol 24-Hydroxylase Reduces the Amyloid Pathology Before or After the Onset of Amyloid Plaques in Mouse Models of Alzheimer's Disease
Eloise Hudry et al.
MOLECULAR THERAPY (2010)
Cholesterol 24-Hydroxylase: An Enzyme of Cholesterol Turnover in the Brain
David W. Russell et al.
ANNUAL REVIEW OF BIOCHEMISTRY (2009)
Characterization of mutant mice that express polyglutamine in cerebellar Purkinje cells
Miho Oue et al.
BRAIN RESEARCH (2009)
New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado–Joseph disease)
Udo Rüb et al.
CURRENT OPINION IN NEUROLOGY (2009)
SREBPs: SREBP function in glia-neuron interactions
Nutabi Camargo et al.
FEBS JOURNAL (2009)
Lentivector-mediated rescue from cerebellar ataxia in a mouse model of spinocerebellar ataxia
Takashi Torashima et al.
EMBO REPORTS (2008)
Striatal and nigral pathology in a lentiviral rat model of Machado-Joseph disease
Sandro Alves et al.
HUMAN MOLECULAR GENETICS (2008)
Neuronal expression and subcellular localization of cholesterol 24-hydroxylase in the mouse brain
Denise M. O. Ramirez et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2008)
Lipid rafts, cholesterol, and the brain
Zeljka Korade et al.
NEUROPHARMACOLOGY (2008)
Allele-Specific RNA Silencing of Mutant Ataxin-3 Mediates Neuroprotection in a Rat Model of Machado-Joseph Disease
Sandro Alves et al.
PLOS ONE (2008)
Late Endosomal Cholesterol Accumulation Leads to Impaired Intra-Endosomal Trafficking
Komla Sobo et al.
PLOS ONE (2007)
Crossing the barrier:: oxysterols as cholesterol transporters and metabolic modulators in the brain
I. Bjorkhem
JOURNAL OF INTERNAL MEDICINE (2006)
Degeneration of ingestion-related brainstem nuclei in spinocerebellar ataxia type 2, 3, 6 and 7
U. Rueb et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2006)
Cholesterol synthesis rate in human hippocampus declines with aging
K. M. Thelen et al.
NEUROSCIENCE LETTERS (2006)
Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice
Taichi Hara et al.
NATURE (2006)
Brain cholesterol turnover required for geranylgeraniol production and learning in mice
TJ Kotti et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Studies on the transcriptional regulation of cholesterol 24-hydroxylase (CYP46A1) -: Marked insensitivity toward different regulatory axes
Y Ohyama et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit
F Chevy et al.
PRENATAL DIAGNOSIS (2005)
Brain cholesterol:: Long secret life behind a barrier
I Björkhem et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2004)
Autosomal dominant cerebellar ataxias:: clinical features, genetics, and pathogenesis
L Schöls et al.
LANCET NEUROLOGY (2004)
Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death
DP Huynh et al.
HUMAN MOLECULAR GENETICS (2003)
Knockout of the cholesterol 24-hydroxylase gene in mice reveals a brain-specific mechanism of cholesterol turnover
EG Lund et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Live-cell imaging reveals divergent intracellular dynamics of polyglutamine disease proteins and supports a sequestration model of pathogenesis
YH Chai et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Control of cholesterol turnover in the mouse
JM Dietschy et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
CNS synaptogenesis promoted by glia-derived cholesterol
DH Mauch et al.
SCIENCE (2001)