De Camilli P - Search Results

1

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

Hardies K, Cai Y, Jardel C, Jansen AC, Cao M, May P, Djémié T, Hachon Le Camus C, Keymolen K, Deconinck T, Bhambhani V, Long C, Sajan SA, Helbig KL; AR working group of the EuroEPINOMICS RES Consortium; Suls A, Balling R, Helbig I, De Jonghe P, Depienne C, De Camilli P, Weckhuysen S. Hardies K, et al. Among authors: de jonghe p, de camilli p. Brain. 2016 Sep;139(Pt 9):2420-30. doi: 10.1093/brain/aww180. Epub 2016 Jul 19. Brain. 2016. PMID: 27435091 Free PMC article.

2

The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.

Krebs CE, Karkheiran S, Powell JC, Cao M, Makarov V, Darvish H, Di Paolo G, Walker RH, Shahidi GA, Buxbaum JD, De Camilli P, Yue Z, Paisán-Ruiz C. Krebs CE, et al. Among authors: de camilli p. Hum Mutat. 2013 Sep;34(9):1200-7. doi: 10.1002/humu.22372. Epub 2013 Jul 19. Hum Mutat. 2013. PMID: 23804563 Free PMC article.

3

Upregulation of Parkin in endophilin mutant mice.

Cao M, Milosevic I, Giovedi S, De Camilli P. Cao M, et al. Among authors: de camilli p. J Neurosci. 2014 Dec 3;34(49):16544-9. doi: 10.1523/JNEUROSCI.1710-14.2014. J Neurosci. 2014. PMID: 25471590 Free PMC article.

4

Absence of Sac2/INPP5F enhances the phenotype of a Parkinson's disease mutation of synaptojanin 1.

Cao M, Park D, Wu Y, De Camilli P. Cao M, et al. Among authors: de camilli p. Proc Natl Acad Sci U S A. 2020 Jun 2;117(22):12428-12434. doi: 10.1073/pnas.2004335117. Epub 2020 May 18. Proc Natl Acad Sci U S A. 2020. PMID: 32424101 Free PMC article.

5

Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses and Triggers Dystrophic Changes in Dopaminergic Axons.

Cao M, Wu Y, Ashrafi G, McCartney AJ, Wheeler H, Bushong EA, Boassa D, Ellisman MH, Ryan TA, De Camilli P. Cao M, et al. Among authors: de camilli p. Neuron. 2017 Feb 22;93(4):882-896.e5. doi: 10.1016/j.neuron.2017.01.019. Neuron. 2017. PMID: 28231468 Free PMC article.

6

Biallelic PI4KA variants cause neurological, intestinal and immunological disease.

Salter CG, Cai Y, Lo B, Helman G, Taylor H, McCartney A, Leslie JS, Accogli A, Zara F, Traverso M, Fasham J, Lees JA, Ferla MP, Chioza BA, Wenger O, Scott E, Cross HE, Crawford J, Warshawsky I, Keisling M, Agamanolis D, Ward Melver C, Cox H, Elawad M, Marton T, Wakeling MN, Holzinger D, Tippelt S, Munteanu M, Valcheva D, Deal C, Van Meerbeke S, Walsh Vockley C, Butte MJ, Acar U, van der Knaap MS, Korenke GC, Kotzaeridou U, Balla T, Simons C, Uhlig HH, Crosby AH, De Camilli P, Wolf NI, Baple EL. Salter CG, et al. Among authors: de camilli p. Brain. 2021 Dec 31;144(12):3597-3610. doi: 10.1093/brain/awab313. Brain. 2021. PMID: 34415310 Free PMC article.

7

The inositol 5-phosphatase INPP5K participates in the fine control of ER organization.

Dong R, Zhu T, Benedetti L, Gowrishankar S, Deng H, Cai Y, Wang X, Shen K, De Camilli P. Dong R, et al. Among authors: de camilli p. J Cell Biol. 2018 Oct 1;217(10):3577-3592. doi: 10.1083/jcb.201802125. Epub 2018 Aug 7. J Cell Biol. 2018. PMID: 30087126 Free PMC article.

8

Single-molecule force spectroscopy of protein-membrane interactions.

Ma L, Cai Y, Li Y, Jiao J, Wu Z, O'Shaughnessy B, De Camilli P, Karatekin E, Zhang Y. Ma L, et al. Among authors: de camilli p. Elife. 2017 Oct 30;6:e30493. doi: 10.7554/eLife.30493. Elife. 2017. PMID: 29083305 Free PMC article.

9

Stepwise membrane binding of extended synaptotagmins revealed by optical tweezers.

Ge J, Bian X, Ma L, Cai Y, Li Y, Yang J, Karatekin E, De Camilli P, Zhang Y. Ge J, et al. Among authors: de camilli p. Nat Chem Biol. 2022 Mar;18(3):313-320. doi: 10.1038/s41589-021-00914-3. Epub 2021 Dec 16. Nat Chem Biol. 2022. PMID: 34916620 Free PMC article.

10

Lipid transporter TMEM24/C2CD2L is a Ca²⁺-regulated component of ER-plasma membrane contacts in mammalian neurons.

Sun EW, Guillén-Samander A, Bian X, Wu Y, Cai Y, Messa M, De Camilli P. Sun EW, et al. Among authors: de camilli p. Proc Natl Acad Sci U S A. 2019 Mar 19;116(12):5775-5784. doi: 10.1073/pnas.1820156116. Epub 2019 Feb 28. Proc Natl Acad Sci U S A. 2019. PMID: 30819882 Free PMC article.

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