| LINC00624 affects hepatocellular carcinoma proliferation and apoptosis through the miR-342-3p/DNAJC5 axis. | LINC00624 affects hepatocellular carcinoma proliferation and apoptosis through the miR-342-3p/DNAJC5 axis.
Xu H, Shen P, Fang J, Jiang J, Shi Y, Xu P, Jiang R, Wang Z. | 02/21/2024 |
| The molecular chaperone cysteine string protein is required for monomeric SNARE proteins to assemble in trans-complexes during human sperm acrosomal exocytosisdagger. | The molecular chaperone cysteine string protein is required for monomeric SNARE proteins to assemble in trans-complexes during human sperm acrosomal exocytosis†.
Flores-Montero K, Berberián MV, Mayorga LS, Tomes CN, Ruete MC. | 03/1/2023 |
| Unconventional secretion of alpha-synuclein mediated by palmitoylated DNAJC5 oligomers. | Unconventional secretion of α-synuclein mediated by palmitoylated DNAJC5 oligomers.
Wu S, Hernandez Villegas NC, Sirkis DW, Thomas-Wright I, Wade-Martins R, Schekman R., Free PMC Article | 02/4/2023 |
| Abnormal triaging of misfolded proteins by adult neuronal ceroid lipofuscinosis-associated DNAJC5/CSPalpha mutants causes lipofuscin accumulation. | Abnormal triaging of misfolded proteins by adult neuronal ceroid lipofuscinosis-associated DNAJC5/CSPα mutants causes lipofuscin accumulation.
Lee J, Xu Y, Saidi L, Xu M, Zinsmaier K, Ye Y., Free PMC Article | 01/11/2023 |
| Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis. | Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis.
Naseri N, Sharma M, Velinov M., Free PMC Article | 10/2/2021 |
| DNAJC5 promotes hepatocellular carcinoma cells proliferation though regulating SKP2 mediated p27 degradation. | DNAJC5 promotes hepatocellular carcinoma cells proliferation though regulating SKP2 mediated p27 degradation.
Wang H, Luo J, Tian X, Xu L, Zhai Z, Cheng M, Chen L, Luo S. | 09/18/2021 |
| Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing. | Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.
Jedličková I, Cadieux-Dion M, Přistoupilová A, Stránecký V, Hartmannová H, Hodaňová K, Barešová V, Hůlková H, Sikora J, Nosková L, Mušálková D, Vyleťal P, Sovová J, Cossette P, Andermann E, Andermann F, Kmoch S, Adult NCL Gene Discovery Consortium., Free PMC Article | 05/29/2021 |
| Point mutations in cysteine string protein-alpha (CSP alpha) cause dominantly inherited adult-onset neuronal ceroid lipofuscinosis (ANCL). Normally palmitoylated cysteine string region of cysteine string protein alpha loses palmitoylation in ANCL mutants. | Aggregation of mutant cysteine string protein-α via Fe-S cluster binding is mitigated by iron chelators.
Naseri NN, Ergel B, Kharel P, Na Y, Huang Q, Huang R, Dolzhanskaya N, Burré J, Velinov MT, Sharma M., Free PMC Article | 04/25/2020 |
| Clinical distinction of type A (progressive myoclonus epilepsy) and type B (dementia with motor disturbance) Kufs disease was supported by molecular diagnoses. Type A is usually caused by recessive pathogenic variants in CLN6 or dominant variants in DNAJC5. Type B Kufs is usually associated with recessive CTSF pathogenic variants. | Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S. | 08/24/2019 |
| Study demonstrate that primary dermal fibroblasts from asymptomatic mutation carriers recapitulate features of adult-neuronal ceroid lipofuscinosis (AD-ANCL) in vitro including CSPalpha-p.L115R/CSPalpha-WT aggregates and the structural and functional lysosomal dysfunction found in the brains of AD-ANCL patients. Further findings support a gain-of-function mechanism for CSPalpha mutations leading to AD-ANCL. | Primary fibroblasts from CSPα mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis.
Benitez BA, Sands MS., Free PMC Article | 03/2/2019 |
| This report describes the clinical history of autosomal dominant Kufs disease, the genetic mutation within the DNAJC5 gene, and the neuropathological findings demonstrating depletion of choline acetyltransferase in the brain. | Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease.
Jarrett P, Easton A, Rockwood K, Dyack S, McCollum A, Siu V, Mirsattari SM, Massot-Tarrús A, Beis MJ, D'Souza N, Darvesh S. | 03/2/2019 |
| Results indicate that by assisting local lysosome/proteasome processes, CSPalpha-mediated removal of toxic proteins via extracellular vesicles plays a central role in synaptic proteostasis. | Neurons Export Extracellular Vesicles Enriched in Cysteine String Protein and Misfolded Protein Cargo.
Deng J, Koutras C, Donnelier J, Alshehri M, Fotouhi M, Girard M, Casha S, McPherson PS, Robbins SM, Braun JEA., Free PMC Article | 09/8/2018 |
| The importance of specific residues in the cysteine-string domain was investigated, revealing that a central core of palmitoylated cysteines is essential for aggregation of adult-onset neuronal ceroid lipofuscinosis CSPalpha L115R/L116 mutants. | A cluster of palmitoylated cysteines are essential for aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis.
Diez-Ardanuy C, Greaves J, Munro KR, Tomkinson NC, Chamberlain LH., Free PMC Article | 07/14/2018 |
| Phosphorylation of CSP triggers a major conformational switch that modulates its protein interactions. | Phosphorylation of Cysteine String Protein Triggers a Major Conformational Switch.
Patel P, Prescott GR, Burgoyne RD, Lian LY, Morgan A., Free PMC Article | 10/7/2017 |
| In fact, DnaJC5 overexpression induced tau release in cells, neurons, and brain tissue, but only when activity of the chaperone Hsc70 was intact and when tau was able to associate with this chaperone. | DnaJ/Hsc70 chaperone complexes control the extracellular release of neurodegenerative-associated proteins.
Fontaine SN, Zheng D, Sabbagh JJ, Martin MD, Chaput D, Darling A, Trotter JH, Stothert AR, Nordhues BA, Lussier A, Baker J, Shelton L, Kahn M, Blair LJ, Stevens SM Jr, Dickey CA., Free PMC Article | 07/1/2017 |
| This study demonstrated that Neuronal ceroid lipofuscinosis with DNAJC5/CSPalpha mutation has PPT1 pathology and exhibit aberrant protein palmitoylation. | Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.
Henderson MX, Wirak GS, Zhang YQ, Dai F, Ginsberg SD, Dolzhanskaya N, Staropoli JF, Nijssen PC, Lam TT, Roth AF, Davis NG, Dawson G, Velinov M, Chandra SS., Free PMC Article | 12/17/2016 |
| These results suggest that the degeneration seen in the patients with AD-ANCL reported here might be a consequence of both the early effects of CSPalpha mutations at the cellular soma. | Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss.
Benitez BA, Cairns NJ, Schmidt RE, Morris JC, Norton JB, Cruchaga C, Sands MS., Free PMC Article | 05/28/2016 |
| the presynaptic vesicle protein CSPalpha is a key player in synaptic degeneration and protection in Alzheimer's disease. | Evidence that the presynaptic vesicle protein CSPalpha is a key player in synaptic degeneration and protection in Alzheimer's disease.
Tiwari SS, d'Orange M, Troakes C, Shurovi BN, Engmann O, Noble W, Hortobágyi T, Giese KP., Free PMC Article | 01/23/2016 |
| Missense mutations in DNAJC5 does not play a major role in PD in the Chinese population. | DNAJ mutations are rare in Chinese Parkinson's disease patients and controls.
Foo JN, Liany H, Tan LC, Au WL, Prakash KM, Liu J, Tan EK. | 10/4/2014 |
| Results indicate of a p.L116del mutation in DNAJC5 from families with autosomal dominant Kufs disease. | Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.
Cadieux-Dion M, Andermann E, Lachance-Touchette P, Ansorge O, Meloche C, Barnabé A, Kuzniecky RI, Andermann F, Faught E, Leonberg S, Damiano JA, Berkovic SF, Rouleau GA, Cossette P. | 12/7/2013 |
| Palmitoylation-induced aggregation of mutant CSP-alpha proteins may underlie the development of adult-onset neuronal ceroid lipofuscinosis | Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis.
Greaves J, Lemonidis K, Gorleku OA, Cruchaga C, Grefen C, Chamberlain LH., Free PMC Article | 01/12/2013 |
| association of DNAJC5 mutations with autosomal dominant Kufs disease | Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.
Velinov M, Dolzhanskaya N, Gonzalez M, Powell E, Konidari I, Hulme W, Staropoli JF, Xin W, Wen GY, Barone R, Coppel SH, Sims K, Brown WT, Züchner S., Free PMC Article | 05/19/2012 |
| This is the first replication study of the identification of DNAJC5 as the disease-causing gene for autosomal dominant ANCL. The identification of the novel gene in ANCL will allow us to gain a better understanding of the pathological mechanism of ANCLs | Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.
Benitez BA, Alvarado D, Cai Y, Mayo K, Chakraverty S, Norton J, Morris JC, Sands MS, Goate A, Cruchaga C., Free PMC Article | 03/31/2012 |
| A neuroprotective role for CSPalpha in humans is confirmed. | Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
Nosková L, Stránecký V, Hartmannová H, Přistoupilová A, Barešová V, Ivánek R, Hůlková H, Jahnová H, van der Zee J, Staropoli JF, Sims KB, Tyynelä J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S., Free PMC Article | 10/15/2011 |
| First evidence that CSP and HSP70, and their interactions with MARCKS, are involved in mucin secretion from airway epithelium. | MARCKS regulation of mucin secretion by airway epithelium in vitro: interaction with chaperones.
Park J, Fang S, Crews AL, Lin KW, Adler KB., Free PMC Article | 11/29/2010 |