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Items: 14

1.

Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking.

Piccolo P, Sabatino V, Mithbaokar P, Polishchuck E, Law SK, Magraner-Pardo L, Pons T, Polishchuck R, Brunetti-Pierri N.

Mol Genet Metab Rep. 2019 Sep 5;21:100504. doi: 10.1016/j.ymgmr.2019.100504. eCollection 2019 Dec.

2.

Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect.

Piccolo P, Sabatino V, Mithbaokar P, Polishchuk E, Hicks J, Polishchuk R, Bacino CA, Brunetti-Pierri N.

Mol Genet Genomic Med. 2019 Sep;7(9):e844. doi: 10.1002/mgg3.844. Epub 2019 Jul 27.

3.

Chronic maternal morphine alters calbindin D-28k expression pattern in postnatal mouse brain.

Mithbaokar P, Fiorito F, Della Morte R, Maharajan V, Costagliola A.

Synapse. 2016 Jan;70(1):15-23. doi: 10.1002/syn.21866. Epub 2015 Oct 16.

PMID:
26418221
4.

SR-A and SREC-I binding peptides increase HDAd-mediated liver transduction.

Piccolo P, Annunziata P, Mithbaokar P, Brunetti-Pierri N.

Gene Ther. 2014 Nov;21(11):950-7. doi: 10.1038/gt.2014.71. Epub 2014 Aug 14.

5.

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

Piccolo P, Mithbaokar P, Sabatino V, Tolmie J, Melis D, Schiaffino MC, Filocamo M, Andria G, Brunetti-Pierri N.

Eur J Hum Genet. 2014 Aug;22(8):988-94. doi: 10.1038/ejhg.2013.283. Epub 2014 Jan 8.

6.

Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency.

Pastore N, Blomenkamp K, Annunziata F, Piccolo P, Mithbaokar P, Maria Sepe R, Vetrini F, Palmer D, Ng P, Polishchuk E, Iacobacci S, Polishchuk R, Teckman J, Ballabio A, Brunetti-Pierri N.

EMBO Mol Med. 2013 Mar;5(3):397-412. doi: 10.1002/emmm.201202046. Epub 2013 Feb 4.

7.

SR-A and SREC-I are Kupffer and endothelial cell receptors for helper-dependent adenoviral vectors.

Piccolo P, Vetrini F, Mithbaokar P, Grove NC, Bertin T, Palmer D, Ng P, Brunetti-Pierri N.

Mol Ther. 2013 Apr;21(4):767-74. doi: 10.1038/mt.2012.287. Epub 2013 Jan 29.

8.

Transcriptional gene network inference from a massive dataset elucidates transcriptome organization and gene function.

Belcastro V, Siciliano V, Gregoretti F, Mithbaokar P, Dharmalingam G, Berlingieri S, Iorio F, Oliva G, Polishchuck R, Brunetti-Pierri N, di Bernardo D.

Nucleic Acids Res. 2011 Nov 1;39(20):8677-88. doi: 10.1093/nar/gkr593. Epub 2011 Jul 23.

9.

Discovery of drug mode of action and drug repositioning from transcriptional responses.

Iorio F, Bosotti R, Scacheri E, Belcastro V, Mithbaokar P, Ferriero R, Murino L, Tagliaferri R, Brunetti-Pierri N, Isacchi A, di Bernardo D.

Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14621-6. doi: 10.1073/pnas.1000138107. Epub 2010 Aug 2.

10.

Expression of the serotonin transporter (SERT) gene during mouse development.

Pavone LM, Mithbaokar P, Mastellone V, Lo Muto R, Spina A, Maharajan V, Paino G, Avallone L.

Vet Res Commun. 2008 Sep;32 Suppl 1:S167-9. doi: 10.1007/s11259-008-9109-z. No abstract available.

PMID:
18685991
11.

Fate map of serotonin transporter-expressing cells in developing mouse heart.

Pavone LM, Mithbaokar P, Mastellone V, Avallone L, Gaspar P, Maharajan V, Baldini A.

Genesis. 2007 Nov;45(11):689-95.

PMID:
17987662
12.

Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector.

Di Natale P, Di Domenico C, Gargiulo N, Castaldo S, Gonzalez Y Reyero E, Mithbaokar P, De Felice M, Follenzi A, Naldini L, Villani GR.

Biochem J. 2005 Jun 1;388(Pt 2):639-46.

13.

Rhes is involved in striatal function.

Spano D, Branchi I, Rosica A, Pirro MT, Riccio A, Mithbaokar P, Affuso A, Arra C, Campolongo P, Terracciano D, Macchia V, Bernal J, Alleva E, Di Lauro R.

Mol Cell Biol. 2004 Jul;24(13):5788-96.

14.

Role of the thyroid-stimulating hormone receptor signaling in development and differentiation of the thyroid gland.

Postiglione MP, Parlato R, Rodriguez-Mallon A, Rosica A, Mithbaokar P, Maresca M, Marians RC, Davies TF, Zannini MS, De Felice M, Di Lauro R.

Proc Natl Acad Sci U S A. 2002 Nov 26;99(24):15462-7. Epub 2002 Nov 13.

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