ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint‐like inclusion body formation, and selective degeneration of dopaminergic neurons
暂无分享,去创建一个
Y. Sakaki | A. Toyoda | N. Hattori | R. Takahashi | Y. Taniguchi | M. Koike | Y. Uchiyama | Hidefumi Ito | S. Saiki | S. Takeda | M. Funayama | N. Uemura | Shigeto Sato | Fumiaki Sato | H. Matsui | Yosuke Taruno | Yoshihito Taniguchi
[1] R. Willemsen,et al. The zebrafish homologue of Parkinson's disease ATP13A2 is essential for embryonic survival , 2013, Brain Research Bulletin.
[2] E. Waxman,et al. Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants , 2012, Journal of neuroscience research.
[3] Sarah Sonnay,et al. Common Pathogenic Effects of Missense Mutations in the P-Type ATPase ATP13A2 (PARK9) Associated with Early-Onset Parkinsonism , 2012, PloS one.
[4] E. Bézard,et al. Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration , 2012, Proceedings of the National Academy of Sciences.
[5] V. Wong,et al. Identification of novel ATP13A2 interactors and their role in α-synuclein misfolding and toxicity. , 2012, Human molecular genetics.
[6] M. Duchen,et al. Dopamine Induced Neurodegeneration in a PINK1 Model of Parkinson's Disease , 2012, PloS one.
[7] J. Troncoso,et al. PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity. , 2012, Human molecular genetics.
[8] D. Krainc,et al. Deficiency of ATP13A2 Leads to Lysosomal Dysfunction, α-Synuclein Accumulation, and Neurotoxicity , 2012, The Journal of Neuroscience.
[9] Zhuohua Zhang,et al. Regulation of Intracellular Manganese Homeostasis by Kufor-Rakeb Syndrome-associated ATP13A2 Protein* , 2011, The Journal of Biological Chemistry.
[10] C. van Broeckhoven,et al. Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation. , 2011, Parkinsonism & related disorders.
[11] J. Stockman. Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease , 2011 .
[12] R. Takahashi,et al. Ammonium chloride and tunicamycin are novel toxins for dopaminergic neurons and induce Parkinson’s disease‐like phenotypes in medaka fish , 2010, Journal of neurochemistry.
[13] R. Takahashi,et al. Proteasome inhibition in medaka brain induces the features of Parkinson’s disease , 2010, Journal of neurochemistry.
[14] S. Pappatà,et al. Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability , 2010, neurogenetics.
[15] A. Singleton,et al. Early‐onset L‐dopa‐responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations , 2010, Movement disorders : official journal of the Movement Disorder Society.
[16] Y. Sakaki,et al. Loss of PINK1 in medaka fish (Oryzias latipes) causes late-onset decrease in spontaneous movement , 2010, Neuroscience Research.
[17] R. Takahashi,et al. A chemical neurotoxin, MPTP induces Parkinson's disease like phenotype, movement disorders and persistent loss of dopamine neurons in medaka fish , 2009, Neuroscience Research.
[18] A. Brice,et al. Parkinson's disease: from monogenic forms to genetic susceptibility factors. , 2009, Human molecular genetics.
[19] R. Youle,et al. Parkin is recruited selectively to impaired mitochondria and promotes their autophagy , 2008, The Journal of cell biology.
[20] N. Hattori,et al. PARK9-LINKED PARKINSONISM IN EASTERN ASIA: MUTATION DETECTION IN ATP13A2 AND CLINICAL PHENOTYPE , 2008, Neurology.
[21] L. Thorne,et al. Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10) , 2008, Acta Neuropathologica.
[22] R. Marconi,et al. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease , 2007, Neurology.
[23] T. Gasser. Update on the genetics of Parkinson's disease , 2007, Movement disorders : official journal of the Movement Disorder Society.
[24] Y. Sakaki,et al. Generation of medaka gene knockout models by target-selected mutagenesis , 2006, Genome Biology.
[25] Jan Gründemann,et al. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase , 2006, Nature Genetics.
[26] P. Saftig,et al. Cathepsin D deficiency is associated with a human neurodegenerative disorder. , 2006, American journal of human genetics.
[27] A. Lehesjoki,et al. Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. , 2006, Brain : a journal of neurology.
[28] Z. Lukacs,et al. Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity. , 2004, Glycobiology.
[29] Jeremy N. Skepper,et al. α-Synuclein Is Degraded by Both Autophagy and the Proteasome* , 2003, Journal of Biological Chemistry.
[30] A. Barzilai,et al. The molecular mechanisms of dopamine toxicity. , 2003, Advances in neurology.
[31] David Blum,et al. Molecular pathways involved in the neurotoxicity of 6-OHDA, dopamine and MPTP: contribution to the apoptotic theory in Parkinson's disease , 2001, Progress in Neurobiology.
[32] H. Nakanishi,et al. Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons. , 2000, The Journal of neuroscience : the official journal of the Society for Neuroscience.
[33] M G Spillantini,et al. Alpha-synuclein in Lewy bodies. , 1997, Nature.
[34] A. Mubaidin,et al. Pallido‐pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor‐Rakeb syndrome , 1994, Acta neurologica Scandinavica.
[35] M. Baumann,et al. Storage of saposins A and D in infantile neuronal ceroid‐lipofuscinosis , 1993, FEBS letters.
[36] M. Idoate,et al. Fabry's disease without angiokeratomas showing unusual eccrine gland vacuolation , 1992, Journal of Pathology.
[37] J. Walker,et al. Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease). , 1992, American journal of medical genetics.
[38] K. Jellinger,et al. Adult GM2 gangliosidosis masquerading as slowly progressive muscular atrophy: motor neuron disease phenotype. , 1982, Clinical neuropathology.