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Items: 13

1.

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.

Nat Cell Biol. 2018 Dec;20(12):1370-1377. doi: 10.1038/s41556-018-0228-7. Epub 2018 Nov 5.

2.

Src regulates amino acid-mediated mTORC1 activation by disrupting GATOR1-Rag GTPase interaction.

Pal R, Palmieri M, Chaudhury A, Klisch TJ, di Ronza A, Neilson JR, Rodney GG, Sardiello M.

Nat Commun. 2018 Oct 19;9(1):4351. doi: 10.1038/s41467-018-06844-4.

3.

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.

Am J Hum Genet. 2018 Jul 5;103(1):154-162. doi: 10.1016/j.ajhg.2018.06.005. Epub 2018 Jun 28.

4.

Trehalose reduces retinal degeneration, neuroinflammation and storage burden caused by a lysosomal hydrolase deficiency.

Lotfi P, Tse DY, Di Ronza A, Seymour ML, Martano G, Cooper JD, Pereira FA, Passafaro M, Wu SM, Sardiello M.

Autophagy. 2018;14(8):1419-1434. doi: 10.1080/15548627.2018.1474313. Epub 2018 Jul 23.

5.

Lysosomes and Brain Health.

Sharma J, di Ronza A, Lotfi P, Sardiello M.

Annu Rev Neurosci. 2018 Jul 8;41:255-276. doi: 10.1146/annurev-neuro-080317-061804. Epub 2018 Apr 16. Review.

PMID:
29661037
6.

Aminode: Identification of Evolutionary Constraints in the Human Proteome.

Chang KT, Guo J, di Ronza A, Sardiello M.

Sci Rep. 2018 Jan 22;8(1):1357. doi: 10.1038/s41598-018-19744-w.

7.

NADPH oxidase promotes Parkinsonian phenotypes by impairing autophagic flux in an mTORC1-independent fashion in a cellular model of Parkinson's disease.

Pal R, Bajaj L, Sharma J, Palmieri M, Di Ronza A, Lotfi P, Chaudhury A, Neilson J, Sardiello M, Rodney GG.

Sci Rep. 2016 Mar 10;6:22866. doi: 10.1038/srep22866.

8.

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.

PLoS Biol. 2015 Mar 26;13(3):e1002103. doi: 10.1371/journal.pbio.1002103. eCollection 2015 Mar.

9.

Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels.

Gennarino VA, Singh RK, White JJ, De Maio A, Han K, Kim JY, Jafar-Nejad P, di Ronza A, Kang H, Sayegh LS, Cooper TA, Orr HT, Sillitoe RV, Zoghbi HY.

Cell. 2015 Mar 12;160(6):1087-98. doi: 10.1016/j.cell.2015.02.012.

10.

Selective clearance of aberrant tau proteins and rescue of neurotoxicity by transcription factor EB.

Polito VA, Li H, Martini-Stoica H, Wang B, Yang L, Xu Y, Swartzlander DB, Palmieri M, di Ronza A, Lee VM, Sardiello M, Ballabio A, Zheng H.

EMBO Mol Med. 2014 Sep;6(9):1142-60. doi: 10.15252/emmm.201303671.

11.

TFEB regulates lysosomal proteostasis.

Song W, Wang F, Savini M, Ake A, di Ronza A, Sardiello M, Segatori L.

Hum Mol Genet. 2013 May 15;22(10):1994-2009. doi: 10.1093/hmg/ddt052. Epub 2013 Feb 7.

PMID:
23393155
12.

Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways.

Palmieri M, Impey S, Kang H, di Ronza A, Pelz C, Sardiello M, Ballabio A.

Hum Mol Genet. 2011 Oct 1;20(19):3852-66. doi: 10.1093/hmg/ddr306. Epub 2011 Jul 13.

PMID:
21752829
13.

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.

Science. 2009 Jul 24;325(5939):473-7. doi: 10.1126/science.1174447. Epub 2009 Jun 25.

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