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Year Number of Results
2009 1
2011 1
2013 1
2014 1
2015 2
2016 1
2018 6
2019 1
2020 1
2024 0

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15 results

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Page 1
A gene network regulating lysosomal biogenesis and function.
Sardiello M, Palmieri M, di Ronza A, Medina DL, Valenza M, Gennarino VA, Di Malta C, Donaudy F, Embrione V, Polishchuk RS, Banfi S, Parenti G, Cattaneo E, Ballabio A. Sardiello M, et al. Among authors: di ronza a. Science. 2009 Jul 24;325(5939):473-7. doi: 10.1126/science.1174447. Epub 2009 Jun 25. Science. 2009. PMID: 19556463
Lysosomes and Brain Health.
Sharma J, di Ronza A, Lotfi P, Sardiello M. Sharma J, et al. Among authors: di ronza a. Annu Rev Neurosci. 2018 Jul 8;41:255-276. doi: 10.1146/annurev-neuro-080317-061804. Epub 2018 Apr 16. Annu Rev Neurosci. 2018. PMID: 29661037 Review.
The CLN3 gene and protein: What we know.
Mirza M, Vainshtein A, DiRonza A, Chandrachud U, Haslett LJ, Palmieri M, Storch S, Groh J, Dobzinski N, Napolitano G, Schmidtke C, Kerkovich DM. Mirza M, et al. Mol Genet Genomic Med. 2019 Dec;7(12):e859. doi: 10.1002/mgg3.859. Epub 2019 Sep 30. Mol Genet Genomic Med. 2019. PMID: 31568712 Free PMC article. Review.
TFEB regulates lysosomal proteostasis.
Song W, Wang F, Savini M, Ake A, di Ronza A, Sardiello M, Segatori L. Song W, et al. Among authors: di ronza a. Hum Mol Genet. 2013 May 15;22(10):1994-2009. doi: 10.1093/hmg/ddt052. Epub 2013 Feb 7. Hum Mol Genet. 2013. PMID: 23393155 Free article.
A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer.
Bajaj L, Sharma J, di Ronza A, Zhang P, Eblimit A, Pal R, Roman D, Collette JR, Booth C, Chang KT, Sifers RN, Jung SY, Weimer JM, Chen R, Schekman RW, Sardiello M. Bajaj L, et al. Among authors: di ronza a. J Clin Invest. 2020 Aug 3;130(8):4118-4132. doi: 10.1172/JCI130955. J Clin Invest. 2020. PMID: 32597833 Free PMC article.
A voltage-gated calcium channel regulates lysosomal fusion with endosomes and autophagosomes and is required for neuronal homeostasis.
Tian X, Gala U, Zhang Y, Shang W, Nagarkar Jaiswal S, di Ronza A, Jaiswal M, Yamamoto S, Sandoval H, Duraine L, Sardiello M, Sillitoe RV, Venkatachalam K, Fan H, Bellen HJ, Tong C. Tian X, et al. Among authors: di ronza a. PLoS Biol. 2015 Mar 26;13(3):e1002103. doi: 10.1371/journal.pbio.1002103. eCollection 2015 Mar. PLoS Biol. 2015. PMID: 25811491 Free PMC article.
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S; Undiagnosed Diseases Network; Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X. Tokita MJ, et al. Among authors: di ronza a. Am J Hum Genet. 2018 Jul 5;103(1):154-162. doi: 10.1016/j.ajhg.2018.06.005. Epub 2018 Jun 28. Am J Hum Genet. 2018. PMID: 29961569 Free PMC article.
15 results