相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。The zebrafish homologue of Parkinson's disease ATP13A2 is essential for embryonic survival
Tomas Lopes da Fonseca et al.
BRAIN RESEARCH BULLETIN (2013)
PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity
David Ramonet et al.
HUMAN MOLECULAR GENETICS (2012)
Identification of novel ATP13A2 interactors and their role in α-synuclein misfolding and toxicity
Marija Usenovic et al.
HUMAN MOLECULAR GENETICS (2012)
Deficiency of ATP13A2 Leads to Lysosomal Dysfunction, α-Synuclein Accumulation, and Neurotoxicity
Marija Usenovic et al.
JOURNAL OF NEUROSCIENCE (2012)
Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants
Jason P. Covy et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2012)
Dopamine Induced Neurodegeneration in a PINK1 Model of Parkinson's Disease
Sonia Gandhi et al.
PLOS ONE (2012)
Common Pathogenic Effects of Missense Mutations in the P-Type ATPase ATP13A2 (PARK9) Associated with Early-Onset Parkinsonism
Agata Podhajska et al.
PLOS ONE (2012)
Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration
Benjamin Dehay et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Regulation of Intracellular Manganese Homeostasis by Kufor-Rakeb Syndrome-associated ATP13A2 Protein
Jieqiong Tan et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
Lucio Santoro et al.
NEUROGENETICS (2011)
Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation
David Crosiers et al.
PARKINSONISM & RELATED DISORDERS (2011)
Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome
A. S. Al-Din et al.
ACTA NEUROLOGICA SCANDINAVICA (2010)
Proteasome inhibition in medaka brain induces the features of Parkinson's disease
Hideaki Matsui et al.
JOURNAL OF NEUROCHEMISTRY (2010)
Ammonium chloride and tunicamycin are novel toxins for dopaminergic neurons and induce Parkinson's disease-like phenotypes in medaka fish
Hideaki Matsui et al.
JOURNAL OF NEUROCHEMISTRY (2010)
Early-Onset L-dopa-Responsive Parkinsonism with Pyramidal Signs Due to ATP13A2, PLA2G6, FBXO7 and Spatacsin Mutations
Coro Paisan-Ruiz et al.
MOVEMENT DISORDERS (2010)
Loss of PINK1 in medaka fish (Oryzias latipes) causes late-onset decrease in spontaneous movement
Hideaki Matsui et al.
NEUROSCIENCE RESEARCH (2010)
Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10)
Karen Fritchie et al.
ACTA NEUROPATHOLOGICA (2009)
Parkinson's disease: from monogenic forms to genetic susceptibility factors
Suzanne Lesage et al.
HUMAN MOLECULAR GENETICS (2009)
A chemical neurotoxin, MPTP induces Parkinson's disease like phenotype, movement disorders and persistent loss of dopamine neurons in medaka fish
Hideaki Matsui et al.
NEUROSCIENCE RESEARCH (2009)
Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
E. Sidransky et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Parkin is recruited selectively to impaired mitochondria and promotes their autophagy
Derek Narendra et al.
JOURNAL OF CELL BIOLOGY (2008)
PARK9-linked parkinsonism in eastern Asia:: Mutation detection in ATP13A2 and clinical phenotype
Y. P. Ning et al.
NEUROLOGY (2008)
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease
A. Di Fonzo et al.
NEUROLOGY (2007)
Update on the genetics of Parkinson's disease
Thomas Gasser
MOVEMENT DISORDERS (2007)
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
Alfredo Ramirez et al.
NATURE GENETICS (2006)
Cathepsin D deficiency is associated with a human neurodegenerative disorder
Robert Steinfeld et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Generation of medaka gene knockout models by target-selected mutagenesis
Yoshihito Taniguchi et al.
GENOME BIOLOGY (2006)
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
Eija Siintola et al.
BRAIN (2006)
Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity
K Tsiakas et al.
GLYCOBIOLOGY (2004)
α-synuclein is degraded by both autophagy and the proteasome
JL Webb et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Molecular pathways involved in the neurotoxicity of 6-OHDA, dopamine and MPTP: contribution to the apoptotic theory in Parkinson's disease
D Blum et al.
PROGRESS IN NEUROBIOLOGY (2001)
分享论文
