Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants
Published 2012 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants
Authors
Keywords
-
Journal
JOURNAL OF NEUROSCIENCE RESEARCH
Volume 90, Issue 12, Pages 2306-2316
Publisher
Wiley
Online
2012-07-30
DOI
10.1002/jnr.23112
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
- (2012) Jose Bras et al. HUMAN MOLECULAR GENETICS
- Deficiency of ATP13A2 Leads to Lysosomal Dysfunction, -Synuclein Accumulation, and Neurotoxicity
- (2012) M. Usenovic et al. JOURNAL OF NEUROSCIENCE
- ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome
- (2012) Anne Grünewald et al. NEUROBIOLOGY OF AGING
- Recent Advances in the Genetics of Parkinson's Disease
- (2011) Ian Martin et al. Annual Review of Genomics and Human Genetics
- Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death
- (2011) Janet Ugolino et al. HUMAN MOLECULAR GENETICS
- PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity
- (2011) David Ramonet et al. HUMAN MOLECULAR GENETICS
- Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism
- (2011) Jin-Sung Park et al. HUMAN MUTATION
- Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses
- (2011) Maria Kousi et al. HUMAN MUTATION
- Regulation of Intracellular Manganese Homeostasis by Kufor-Rakeb Syndrome-associated ATP13A2 Protein
- (2011) Jieqiong Tan et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers
- (2011) Fabiana H.G. Farias et al. NEUROBIOLOGY OF DISEASE
- A One Base Pair Deletion in the Canine ATP13A2 Gene Causes Exon Skipping and Late-Onset Neuronal Ceroid Lipofuscinosis in the Tibetan Terrier
- (2011) Anne Wöhlke et al. PLoS Genetics
- Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations
- (2010) Coro Paisán-Ruiz et al. MOVEMENT DISORDERS
- Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
- (2010) Lucio Santoro et al. NEUROGENETICS
- Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation
- (2010) David Crosiers et al. PARKINSONISM & RELATED DISORDERS
- Professional exposure to pesticides and Parkinson disease
- (2009) Alexis Elbaz et al. ANNALS OF NEUROLOGY
- Cd2+, Mn2+, Ni2+ and Se2+ toxicity to Saccharomyces cerevisiae lacking YPK9p the orthologue of human ATP13A2
- (2009) Karyn Schmidt et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Parkinson's disease: from monogenic forms to genetic susceptibility factors
- (2009) S. Lesage et al. HUMAN MOLECULAR GENETICS
- α-Synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity
- (2009) Aaron D Gitler et al. NATURE GENETICS
- Parkinson's disease: Exit toxins, enter genetics
- (2009) Marie Westerlund et al. PROGRESS IN NEUROBIOLOGY
- Non-motor symptoms in Parkinson’s disease
- (2008) W. Poewe EUROPEAN JOURNAL OF NEUROLOGY
- ATP13A2variability in Parkinson disease
- (2008) Carles Vilariño-Güell et al. HUMAN MUTATION
- PARK9-LINKED PARKINSONISM IN EASTERN ASIA: MUTATION DETECTION IN ATP13A2 AND CLINICAL PHENOTYPE
- (2008) Y. P. Ning et al. NEUROLOGY
- Mitochondrial biology and oxidative stress in Parkinson disease pathogenesis
- (2008) Claire Henchcliffe et al. Nature clinical practice. Neurology
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now