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Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease.
Saini P, Rudakou U, Yu E, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Espay AJ, Rouleau GA, Alcalay RN, Fon EA, Postuma RB, Gan-Or Z. Saini P, et al. Neurobiol Aging. 2021 Apr;100:119.e7-119.e13. doi: 10.1016/j.neurobiolaging.2020.10.019. Epub 2020 Oct 31. Neurobiol Aging. 2021. PMID: 33239198 Free PMC article.
Rare mutations in genes originally discovered in multigenerational families have been associated with increased risk of Parkinson's disease (PD). The involvement of rare variants in DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 loci has been poorly studied or has produced conf …
Rare mutations in genes originally discovered in multigenerational families have been associated with increased risk of Parkinson's disease …
A conserved requirement for RME-8/DNAJC13 in neuronal autophagic lysosome reformation.
Swords SB, Jia N, Norris A, Modi J, Cai Q, Grant BD. Swords SB, et al. Autophagy. 2024 Apr;20(4):792-808. doi: 10.1080/15548627.2023.2269028. Epub 2023 Nov 9. Autophagy. 2024. PMID: 37942902 Free PMC article.
The DNA-J domain HSC70 co-chaperone RME-8/DNAJC13 has been linked to endosomal coat protein regulation and to neurological disease. ...Loss of RME-8/DNAJC13 in both systems results in accumulation of grossly elongated autolysosomal tubules. ...
The DNA-J domain HSC70 co-chaperone RME-8/DNAJC13 has been linked to endosomal coat protein regulation and to neurological disease. . …
New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.
Puschmann A. Puschmann A. Curr Neurol Neurosci Rep. 2017 Sep;17(9):66. doi: 10.1007/s11910-017-0780-8. Curr Neurol Neurosci Rep. 2017. PMID: 28733970 Free PMC article. Review.
RECENT FINDINGS: Newly reported genes for dominant Parkinson's disease are DNAJC13, CHCHD2, and TMEM230. However, the evidence for a disease-causing role is not conclusive, and further genetic and functional studies are warranted. ...
RECENT FINDINGS: Newly reported genes for dominant Parkinson's disease are DNAJC13, CHCHD2, and TMEM230. However, the evidence for a …
DNAJC13 p.Asn855Ser, implicated in familial parkinsonism, alters membrane dynamics of sorting nexin 1.
Follett J, Fox JD, Gustavsson EK, Kadgien C, Munsie LN, Cao LP, Tatarnikov I, Milnerwood AJ, Farrer MJ. Follett J, et al. Neurosci Lett. 2019 Jul 27;706:114-122. doi: 10.1016/j.neulet.2019.04.043. Epub 2019 May 11. Neurosci Lett. 2019. PMID: 31082451
DNAJC13 (RME-8) is a core co-chaperone that facilitates membrane recycling and cargo sorting of endocytosed proteins. ...Here we examine the effect of the DNAJC13 disease-linked mutation (p.Asn855Ser) on its interacting partners, focusing on sorting nexin 1 (SNX1) m …
DNAJC13 (RME-8) is a core co-chaperone that facilitates membrane recycling and cargo sorting of endocytosed proteins. ...Here we exam …
DNAJC13 genetic variants in parkinsonism.
Gustavsson EK, Trinh J, Guella I, Vilariño-Güell C, Appel-Cresswell S, Stoessl AJ, Tsui JK, McKeown M, Rajput A, Rajput AH, Aasly JO, Farrer MJ. Gustavsson EK, et al. Mov Disord. 2015 Feb;30(2):273-8. doi: 10.1002/mds.26064. Epub 2014 Nov 12. Mov Disord. 2015. PMID: 25393719
BACKGROUND: A novel mutation (p.N855S) in DNAJC13 has been linked to familial, late-onset Lewy body parkinsonism in a Dutch-German-Russian Mennonite multi-incident kindred. METHODS: DNAJC13 was sequenced in 201 patients with parkinsonism and 194 controls from Canada …
BACKGROUND: A novel mutation (p.N855S) in DNAJC13 has been linked to familial, late-onset Lewy body parkinsonism in a Dutch-German-Ru …
DNAJC13 localization to endosomes is opposed by its J domain and its disordered C-terminal tail.
Adoff H, Novy B, Holland E, Lobingier BT. Adoff H, et al. bioRxiv [Preprint]. 2024 Dec 20:2024.12.19.629517. doi: 10.1101/2024.12.19.629517. bioRxiv. 2024. PMID: 39763938 Free PMC article. Preprint.
However, little is known about how DNAJC13 localization is regulated. Here, we show that two regions within DNAJC13, its J domain and disordered C-terminal tail, act as negative regulators of its PH-like domain. ...Together, these results demonstrate that interactio …
However, little is known about how DNAJC13 localization is regulated. Here, we show that two regions within DNAJC13, its J dom …
A Conserved Requirement for RME-8/DNAJC13 in Neuronal Autolysosome Reformation.
Swords S, Jia N, Norris A, Modi J, Cai Q, Grant BD. Swords S, et al. bioRxiv [Preprint]. 2023 Feb 28:2023.02.27.530319. doi: 10.1101/2023.02.27.530319. bioRxiv. 2023. Update in: Autophagy. 2024 Apr;20(4):792-808. doi: 10.1080/15548627.2023.2269028. PMID: 36909501 Free PMC article. Updated. Preprint.
Cell biological studies have linked the DNA-J domain Hsc70 co-chaperone RME-8/DNAJC13 to endosomal coat protein regulation, while human genetics studies have linked RME-8/DNAJC13 to neurological disease, including Parkinsonism and Essential Tremor. ...Our results co …
Cell biological studies have linked the DNA-J domain Hsc70 co-chaperone RME-8/DNAJC13 to endosomal coat protein regulation, while hum …
DNAJC13 mutations in Parkinson disease.
Vilariño-Güell C, Rajput A, Milnerwood AJ, Shah B, Szu-Tu C, Trinh J, Yu I, Encarnacion M, Munsie LN, Tapia L, Gustavsson EK, Chou P, Tatarnikov I, Evans DM, Pishotta FT, Volta M, Beccano-Kelly D, Thompson C, Lin MK, Sherman HE, Han HJ, Guenther BL, Wasserman WW, Bernard V, Ross CJ, Appel-Cresswell S, Stoessl AJ, Robinson CA, Dickson DW, Ross OA, Wszolek ZK, Aasly JO, Wu RM, Hentati F, Gibson RA, McPherson PS, Girard M, Rajput M, Rajput AH, Farrer MJ. Vilariño-Güell C, et al. Hum Mol Genet. 2014 Apr 1;23(7):1794-801. doi: 10.1093/hmg/ddt570. Epub 2013 Nov 11. Hum Mol Genet. 2014. PMID: 24218364 Free PMC article.
All carriers shared an ancestral DNAJC13 p.Asn855Ser haplotype and claimed Dutch-German-Russian Mennonite heritage. DNAJC13 regulates the dynamics of clathrin coats on early endosomes. Cellular analysis shows that the mutation confers a toxic gain-of-function and im …
All carriers shared an ancestral DNAJC13 p.Asn855Ser haplotype and claimed Dutch-German-Russian Mennonite heritage. DNAJC13 re …
DNAJC13 mutation screening in patients with Parkinson's disease from South Italy.
Gagliardi M, Annesi G, Procopio R, Morelli M, Iannello G, Bonapace G, Mancini M, Nicoletti G, Quattrone A. Gagliardi M, et al. Parkinsonism Relat Disord. 2018 Oct;55:134-137. doi: 10.1016/j.parkreldis.2018.06.004. Epub 2018 Jun 4. Parkinsonism Relat Disord. 2018. PMID: 29887357
METHODS: We screened 563 sporadic and 168 familial PD patients and a control series (n = 1000) for the coding region of DNAJC13. RESULTS: Our sequencing analysis identified two carriers of the c.2708G > A (p.R903K) variant in exon 24 of DNAJC13. ...R903K variant …
METHODS: We screened 563 sporadic and 168 familial PD patients and a control series (n = 1000) for the coding region of DNAJC13. RESU …
DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.
Lorenzo-Betancor O, Ogaki K, Soto-Ortolaza AI, Labbe C, Walton RL, Strongosky AJ, van Gerpen JA, Uitti RJ, McLean PJ, Springer W, Siuda J, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, McCarthy A, Lynch T, Puschmann A, Rektorova I, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Ferman TJ, Boeve BF, Petersen RC, Parisi JE, Graff-Radford NR, Dickson DW, Wszolek ZK, Ross OA. Lorenzo-Betancor O, et al. Eur J Neurol. 2015 Sep;22(9):1323-5. doi: 10.1111/ene.12770. Eur J Neurol. 2015. PMID: 26278106 Free PMC article.
BACKGROUND: Recently, a novel mutation in exon 24 of DNAJC13 gene (p.Asn855Ser, rs387907571) has been reported to cause autosomal dominant Parkinson's disease (PD) in a multi-incident Mennonite family. ...RESULTS: Our sequence analysis did not identify any coding variants …
BACKGROUND: Recently, a novel mutation in exon 24 of DNAJC13 gene (p.Asn855Ser, rs387907571) has been reported to cause autosomal dom …
66 results