Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism
出版年份 2011 全文链接
标题
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism
作者
关键词
-
出版物
HUMAN MUTATION
Volume 32, Issue 8, Pages 956-964
出版商
Wiley
发表日期
2011-05-04
DOI
10.1002/humu.21527
参考文献
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。- Does bafilomycin A1block the fusion of autophagosomes with lysosomes?
- (2014) Daniel J. Klionsky et al. Autophagy
- Disease-specific, neurosphere-derived cells as models for brain disorders
- (2010) N. Matigian et al. Disease Models & Mechanisms
- Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations
- (2010) Maria I. Behrens et al. MOVEMENT DISORDERS
- ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation
- (2010) Susanne A. Schneider et al. MOVEMENT DISORDERS
- Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease
- (2010) Lena Kertelge 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
- 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
- Gene expression networks: competing mRNA decay pathways in mammalian cells
- (2009) Lynne E. Maquat et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- Perifosine Inhibits Mammalian Target of Rapamycin Signaling through Facilitating Degradation of Major Components in the mTOR Axis and Induces Autophagy
- (2009) L. Fu et al. CANCER RESEARCH
- Pathogenesis of familial Parkinson’s disease: new insights based on monogenic forms of Parkinson’s disease
- (2009) Taku Hatano et al. JOURNAL OF NEUROCHEMISTRY
- Preserved cardiac123I-MIBG uptake and lack of severe autonomic dysfunction in a PARK9 patient
- (2009) Kazuaki Kanai et al. MOVEMENT DISORDERS
- 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
- Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner
- (2008) Kristina Oresic et al. BIOSCIENCE REPORTS
- Wild Type α-Synuclein Is Degraded by Chaperone-mediated Autophagy and Macroautophagy in Neuronal Cells
- (2008) Tereza Vogiatzi et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- PARK9-LINKED PARKINSONISM IN EASTERN ASIA: MUTATION DETECTION IN ATP13A2 AND CLINICAL PHENOTYPE
- (2008) Y. P. Ning et al. NEUROLOGY
- Olfactory Mucosa Is a Potential Source for Autologous Stem Cell Therapy for Parkinson's Disease
- (2008) Wayne Murrell et al. STEM CELLS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started