Primary fibroblasts from CSPα mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis
出版年份 2017 全文链接
标题
Primary fibroblasts from CSPα mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis
作者
关键词
-
出版物
Scientific Reports
Volume 7, Issue 1, Pages -
出版商
Springer Nature
发表日期
2017-07-18
DOI
10.1038/s41598-017-06710-1
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency
- (2017) Arun Kumar Tharkeshwar et al. Scientific Reports
- DnaJ/Hsc70 chaperone complexes control the extracellular release of neurodegenerative‐associated proteins
- (2016) Sarah N Fontaine et al. EMBO JOURNAL
- Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation
- (2015) Michael X. Henderson et al. ACTA NEUROPATHOLOGICA
- Cysteine string protein (CSP) and its role in preventing neurodegeneration
- (2015) Robert D. Burgoyne et al. SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss
- (2015) Bruno A. Benitez et al. Acta Neuropathologica Communications
- Basal Level of Autophagy Is Increased in Aging Human Skin Fibroblasts In Vitro, but Not in Old Skin
- (2015) Dino Demirovic et al. PLoS One
- Increased Expression of the Large Conductance, Calcium-Activated K+ (BK) Channel in Adult-Onset Neuronal Ceroid Lipofuscinosis
- (2015) Julien Donnelier et al. PLoS One
- Oligomerization of Cysteine String Protein alpha mutants causing adult neuronal ceroid lipofuscinosis
- (2014) Yong-quan Zhang et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- CSPα—chaperoning presynaptic proteins
- (2014) Julien Donnelier et al. Frontiers in Cellular Neuroscience
- An Extended Proteome Map of the Lysosomal Membrane Reveals Novel Potential Transporters
- (2013) Agnès Chapel et al. MOLECULAR & CELLULAR PROTEOMICS
- Neuroprotection and lifespan extension in Ppt1 −/− mice by NtBuHA: therapeutic implications for INCL
- (2013) Chinmoy Sarkar et al. NATURE NEUROSCIENCE
- Synergistic effects of central nervous system-directed gene therapy and bone marrow transplantation in the murine model of infantile neuronal ceroid lipofuscinosis
- (2012) Shannon L. Macauley et al. ANNALS OF NEUROLOGY
- Guidelines for the use and interpretation of assays for monitoring autophagy
- (2012) Daniel J. Klionsky et al. Autophagy
- Palmitoylation-induced Aggregation of Cysteine-string Protein Mutants That Cause Neuronal Ceroid Lipofuscinosis
- (2012) Jennifer Greaves et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Identification of Autophagosome-associated Proteins and Regulators by Quantitative Proteomic Analysis and Genetic Screens
- (2012) Jörn Dengjel et al. MOLECULAR & CELLULAR PROTEOMICS
- Identification of CSPα Clients Reveals a Role in Dynamin 1 Regulation
- (2012) Yong-Quan Zhang et al. NEURON
- Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families
- (2012) Milen Velinov et al. PLoS One
- Proteasome Inhibition Alleviates SNARE-Dependent Neurodegeneration
- (2012) M. Sharma et al. Science Translational Medicine
- Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
- (2011) Lenka Nosková et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Transcriptional Activation of Lysosomal Exocytosis Promotes Cellular Clearance
- (2011) Diego L. Medina et al. DEVELOPMENTAL CELL
- CSPα knockout causes neurodegeneration by impairing SNAP-25 function
- (2011) Manu Sharma et al. EMBO JOURNAL
- Systematic and Quantitative Assessment of the Ubiquitin-Modified Proteome
- (2011) Woong Kim et al. MOLECULAR CELL
- Global quantification of mammalian gene expression control
- (2011) Björn Schwanhäusser et al. NATURE
- Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis
- (2011) Bruno A. Benitez et al. PLoS One
- ErbB2-associated changes in the lysosomal proteome
- (2011) Jesper Nylandsted et al. PROTEOMICS
- Clarifying lysosomal storage diseases
- (2011) Mark L. Schultz et al. TRENDS IN NEUROSCIENCES
- CSPα promotes SNARE-complex assembly by chaperoning SNAP-25 during synaptic activity
- (2010) Manu Sharma et al. NATURE CELL BIOLOGY
- Functional reduction of SK3-mediated currents precedes AMPA-receptor-mediated excitotoxicity in dopaminergic neurons
- (2010) Bruno A. Benítez et al. NEUROPHARMACOLOGY
- Palmitoylation and Membrane Interactions of the Neuroprotective Chaperone Cysteine-string Protein
- (2008) Jennifer Greaves et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Intraventricular Enzyme Replacement Improves Disease Phenotypes in a Mouse Model of Late Infantile Neuronal Ceroid Lipofuscinosis
- (2008) Michael Chang et al. MOLECULAR THERAPY
- Cysteine-String Protein
- (2003) Luke H. Chamberlain et al. JOURNAL OF NEUROCHEMISTRY
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