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Items: 1 to 20 of 44

1.
Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis
Nima Naseri, Manu Sharma, Milen Velinov
Clin Genet. Author manuscript; available in PMC 2021 Feb 22.
Published in final edited form as: Clin Genet. 2021 Jan; 99(1): 111–118. Published online 2020 Aug 26. doi: 10.1111/cge.13829
PMCID:
PMC7899141
AbstractArticlePDF–867K
2.
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
Ivana Jedličková, Maxime Cadieux-Dion, Anna Přistoupilová, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Veronika Barešová, Helena Hůlková, Jakub Sikora, Lenka Nosková, Dita Mušálková, Petr Vyleťal, Jana Sovová, Patrick Cossette, Eva Andermann, Frederick Andermann, Stanislav Kmoch, The Adult NCL Gene Discovery Consortium
Eur J Hum Genet. 2020 Jun; 28(6): 783–789. Published online 2020 Jan 9. doi: 10.1038/s41431-019-0567-2
PMCID:
PMC7253421
AbstractArticlePDF–1.2M
3.
Primary fibroblasts from CSPα mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis
Bruno A. Benitez, Mark S. Sands
Sci Rep. 2017; 7: 6332. Published online 2017 Jul 24. doi: 10.1038/s41598-017-06710-1
PMCID:
PMC5524943
AbstractArticlePDF–3.3M
4.
A cluster of palmitoylated cysteines are essential for aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis
Cinta Diez-Ardanuy, Jennifer Greaves, Kevin R. Munro, Nicholas C. O. Tomkinson, Luke H. Chamberlain
Sci Rep. 2017; 7: 10. Published online 2017 Jan 31. doi: 10.1038/s41598-017-00036-8
PMCID:
PMC5428344
AbstractArticlePDF–2.2M
5.
Phosphorylation of Cysteine String Protein Triggers a Major Conformational Switch
Pryank Patel, Gerald R. Prescott, Robert D. Burgoyne, Lu-Yun Lian, Alan Morgan
Structure. 2016 Aug 2; 24(8): 1380–1386. doi: 10.1016/j.str.2016.06.009
PMCID:
PMC4975591
AbstractArticlePDF–1.8M
6.
Neuronal ceroid lipofuscinosis with DNAJC5/CSP mutations have PPT1 pathology and exhibit aberrant protein palmitoylation
Michael X. Henderson, Gregory S. Wirak, Yong-quan Zhang, Feng Dai, Stephen D. Ginsberg, Natalia Dolzhanskaya, John F. Staropoli, Peter CG Nijssen, TuKiet T Lam, Amy F. Roth, Nicholas G. Davis, Glyn Dawson, Milen Velinov, Sreeganga S. Chandra
Acta Neuropathol. Author manuscript; available in PMC 2017 Apr 1.
Published in final edited form as: Acta Neuropathol. 2016 Apr; 131(4): 621–637. Published online 2015 Dec 10. doi: 10.1007/s00401-015-1512-2
PMCID:
PMC4791186
AbstractArticlePDF–1.7M
7.
Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss
Bruno A. Benitez, Nigel J. Cairns, Robert E. Schmidt, John C. Morris, Joanne B. Norton, Carlos Cruchaga, Mark S. Sands
Acta Neuropathol Commun. 2015; 3: 73. Published online 2015 Nov 26. doi: 10.1186/s40478-015-0256-5
PMCID:
PMC4660676
AbstractArticlePDF–1.7M
8.
Evidence that the presynaptic vesicle protein CSPalpha is a key player in synaptic degeneration and protection in Alzheimer’s disease
Sachin S Tiwari, Marie d’Orange, Claire Troakes, Badrun N Shurovi, Olivia Engmann, Wendy Noble, Tibor Hortobágyi, Karl P Giese
Mol Brain. 2015; 8: 6. Published online 2015 Jan 29. doi: 10.1186/s13041-015-0096-z
PMCID:
PMC4314762
AbstractArticlePDF–2.3M
9.
Palmitoylation-induced Aggregation of Cysteine-string Protein Mutants That Cause Neuronal Ceroid Lipofuscinosis
Jennifer Greaves, Kimon Lemonidis, Oforiwa A. Gorleku, Carlos Cruchaga, Christopher Grefen, Luke H. Chamberlain
J Biol Chem. 2012 Oct 26; 287(44): 37330–37339. Published online 2012 Aug 19. doi: 10.1074/jbc.M112.389098
PMCID:
PMC3481330
AbstractArticlePDF–2.3M
10.
Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families
Milen Velinov, Natalia Dolzhanskaya, Michael Gonzalez, Eric Powell, Ioanna Konidari, William Hulme, John F. Staropoli, Winnie Xin, Guang Y. Wen, Rosemary Barone, Scott H. Coppel, Katherine Sims, W. Ted Brown, Stephan Züchner
PLoS One. 2012; 7(1): e29729. Published online 2012 Jan 3. doi: 10.1371/journal.pone.0029729
Correction in:
PLoS One. 2012; 7(9): 10.1371/annotation/26d7eb64-ccd2-41db-b1aa-7cdc8c1eff95.
PMCID:
PMC3250487
AbstractArticlePDF–883K
11.
Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis
Bruno A. Benitez, David Alvarado, Yefei Cai, Kevin Mayo, Sumitra Chakraverty, Joanne Norton, John C. Morris, Mark S. Sands, Alison Goate, Carlos Cruchaga
PLoS One. 2011; 6(11): e26741. Published online 2011 Nov 4. doi: 10.1371/journal.pone.0026741
PMCID:
PMC3208569
AbstractArticlePDF–496K
12.
Unconventional secretion of α-synuclein mediated by palmitoylated DNAJC5 oligomers
Shenjie Wu, Nancy C Hernandez Villegas, Daniel W Sirkis, Iona Thomas-Wright, Richard Wade-Martins, Randy Schekman
eLife. 2023; 12: e85837. Published online 2023 Jan 10. doi: 10.7554/eLife.85837
PMCID:
PMC9876576
AbstractArticlePDF–6.2M
13.
Aggregation of Mutant Cysteine String Protein-α via Fe-S Cluster-Binding is mitigated by Fe-chelators
Nima N. Naseri, Burçe Ergel, Parinati Kharel, Yoonmi Na, Qingqiu Huang, Rong Huang, Natalia Dolzhanskaya, Jacqueline Burre, Milen T. Velinov, Manu Sharma
Nat Struct Mol Biol. Author manuscript; available in PMC 2020 Aug 10.
Published in final edited form as: Nat Struct Mol Biol. 2020 Feb; 27(2): 192–201. Published online 2020 Feb 10. doi: 10.1038/s41594-020-0375-y
PMCID:
PMC7021000
AbstractArticlePDF–1.4M
14.
Neurons Export Extracellular Vesicles Enriched in Cysteine String Protein and Misfolded Protein Cargo
Jingti Deng, Carolina Koutras, Julien Donnelier, Mana Alshehri, Maryam Fotouhi, Martine Girard, Steve Casha, Peter S. McPherson, Stephen M. Robbins, Janice E. A. Braun
Sci Rep. 2017; 7: 956. Published online 2017 Apr 19. doi: 10.1038/s41598-017-01115-6
PMCID:
PMC5430488
AbstractArticlePDF–1.9M
15.
Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
Lenka Nosková, Viktor Stránecký, Hana Hartmannová, Anna Přistoupilová, Veronika Barešová, Robert Ivánek, Helena Hůlková, Helena Jahnová, Julie van der Zee, John F. Staropoli, Katherine B. Sims, Jaana Tyynelä, Christine Van Broeckhoven, Peter C.G. Nijssen, Sara E. Mole, Milan Elleder, Stanislav Kmoch
Am J Hum Genet. 2011 Aug 12; 89(2): 241–252. doi: 10.1016/j.ajhg.2011.07.003
Correction in:
Am J Hum Genet. 2011 Oct 7; 89(4): 589.
PMCID:
PMC3155175
AbstractArticlePDF–2.5M
16.
MARCKS Regulation of Mucin Secretion by Airway Epithelium in Vitro: Interaction with Chaperones
Joungjoa Park, Shijing Fang, Anne L. Crews, Ko-Wei Lin, Kenneth B. Adler
Am J Respir Cell Mol Biol. 2008 Jul; 39(1): 68–76. Published online 2008 Feb 28. doi: 10.1165/rcmb.2007-0139OC
PMCID:
PMC2438449
AbstractArticlePDF–867K
17.
Abnormal triaging of misfolded proteins by adult neuronal ceroid lipofuscinosis-associated DNAJC5/CSPα mutants causes lipofuscin accumulation
Juhyung Lee, Yue Xu, Layla Saidi, Miao Xu, Konrad Zinsmaier, Yihong Ye
Autophagy. 2023; 19(1): 204–223. Published online 2022 May 4. doi: 10.1080/15548627.2022.2065618
PMCID:
PMC9809949
AbstractArticlePDF–6.8M
18.
The Role of Cysteine String Protein α Phosphorylation at Serine 10 and 34 by Protein Kinase Cγ for Presynaptic Maintenance
Toshihiko Shirafuji, Takehiko Ueyama, Naoko Adachi, Ken-Ichi Yoshino, Yusuke Sotomaru, Junsuke Uwada, Azumi Kaneoka, Taro Ueda, Shigeru Tanaka, Izumi Hide, Naoaki Saito, Norio Sakai
J Neurosci. 2018 Jan 10; 38(2): 278–290. doi: 10.1523/JNEUROSCI.1649-17.2017
PMCID:
PMC6596106
AbstractArticlePDF–2.2M
19.
DnaJ/Hsc70 chaperone complexes control the extracellular release of neurodegenerative‐associated proteins
Sarah N Fontaine, Dali Zheng, Jonathan J Sabbagh, Mackenzie D Martin, Dale Chaput, April Darling, Justin H Trotter, Andrew R Stothert, Bryce A Nordhues, April Lussier, Jeremy Baker, Lindsey Shelton, Mahnoor Kahn, Laura J Blair, Stanley M Stevens, Jr, Chad A Dickey
EMBO J. 2016 Jul 15; 35(14): 1537–1549. Published online 2016 Jun 3. doi: 10.15252/embj.201593489
PMCID:
PMC4946142
AbstractArticlePDF–1.8M
20.
Cysteine String Protein Promotes Proteasomal Degradation of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) by Increasing Its Interaction with the C Terminus of Hsp70-interacting Protein and Promoting CFTR Ubiquitylation
Béla Z. Schmidt, Rebecca J. Watts, Meir Aridor, Raymond A. Frizzell
J Biol Chem. 2009 Feb 13; 284(7): 4168–4178. doi: 10.1074/jbc.M806485200
PMCID:
PMC2640980
AbstractArticlePDF–582K

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