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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 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, di malta c. 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.
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis.
di Ronza A, Bajaj L, Sharma J, Sanagasetti D, Lotfi P, Adamski CJ, Collette J, Palmieri M, Amawi A, Popp L, Chang KT, Meschini MC, Leung HE, Segatori L, Simonati A, Sifers RN, Santorelli FM, Sardiello M. di Ronza A, et al. Nat Cell Biol. 2018 Dec;20(12):1370-1377. doi: 10.1038/s41556-018-0228-7. Epub 2018 Nov 5. Nat Cell Biol. 2018. PMID: 30397314 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