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Items: 18

1.

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.

Moysés-Oliveira M, Giannuzzi G, Fish RJ, Rosenfeld JA, Petit F, Soares MF, Kulikowski LD, Di-Battista A, Zamariolli M, Xia F, Liehr T, Kosyakova N, Carvalheira G, Parker M, Seaby EG, Ennis S, Gilbert RD, Hagelstrom RT, Cremona ML, Li WL, Malhotra A, Chandrasekhar A, Perry DL, Taft RJ, McCarrier J, Basel DG, Andrieux J, Stumpp T, Antunes F, Pereira GJ, Neerman-Arbez M, Meloni VA, Drummond-Borg M, Melaragno MI, Reymond A.

Hum Mutat. 2018 Feb;39(2):281-291. doi: 10.1002/humu.23373. Epub 2017 Dec 14.

PMID:
29193635
2.

Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study.

Wynn J, Martinez J, Bulafka J, Duong J, Zhang Y, Chiuzan C, Preti J, Cremona ML, Jobanputra V, Fyer AJ, Klitzman RL, Appelbaum PS, Chung WK.

J Genet Couns. 2018 Jun;27(3):709-722. doi: 10.1007/s10897-017-0172-x. Epub 2017 Nov 22.

3.

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

Susswein LR, Marshall ML, Nusbaum R, Vogel Postula KJ, Weissman SM, Yackowski L, Vaccari EM, Bissonnette J, Booker JK, Cremona ML, Gibellini F, Murphy PD, Pineda-Alvarez DE, Pollevick GD, Xu Z, Richard G, Bale S, Klein RT, Hruska KS, Chung WK.

Genet Med. 2016 Aug;18(8):823-32. doi: 10.1038/gim.2015.166. Epub 2015 Dec 17. Erratum in: Genet Med. 2016 May;18(5):531-2.

4.

ILDR2: an endoplasmic reticulum resident molecule mediating hepatic lipid homeostasis.

Watanabe K, Watson E, Cremona ML, Millings EJ, Lefkowitch JH, Fischer SG, LeDuc CA, Leibel RL.

PLoS One. 2013 Jun 24;8(6):e67234. doi: 10.1371/journal.pone.0067234. Print 2013.

5.

TNF-α up-regulates protein level and cell surface expression of the leptin receptor by stimulating its export via a PKC-dependent mechanism.

Gan L, Guo K, Cremona ML, McGraw TE, Leibel RL, Zhang Y.

Endocrinology. 2012 Dec;153(12):5821-33. doi: 10.1210/en.2012-1510. Epub 2012 Oct 15.

6.

Flotillin-1 is essential for PKC-triggered endocytosis and membrane microdomain localization of DAT.

Cremona ML, Matthies HJ, Pau K, Bowton E, Speed N, Lute BJ, Anderson M, Sen N, Robertson SD, Vaughan RA, Rothman JE, Galli A, Javitch JA, Yamamoto A.

Nat Neurosci. 2011 Apr;14(4):469-77. doi: 10.1038/nn.2781. Epub 2011 Mar 13. Erratum in: Nat Neurosci. 2011 Dec;14(2):1617.

7.
8.

Potent inhibitors of Huntingtin protein aggregation in a cell-based assay.

Rinderspacher A, Cremona ML, Liu Y, Deng SX, Xie Y, Gong G, Aulner N, Többen U, Myers K, Chung C, Andersen M, Vidović D, Schürer S, Brandén L, Yamamoto A, Landry DW.

Bioorg Med Chem Lett. 2009 Mar 15;19(6):1715-7. doi: 10.1016/j.bmcl.2009.01.087. Epub 2009 Jan 30.

9.

Autophagy-mediated clearance of huntingtin aggregates triggered by the insulin-signaling pathway.

Yamamoto A, Cremona ML, Rothman JE.

J Cell Biol. 2006 Feb 27;172(5):719-31.

10.

The crystal structure and mode of action of trans-sialidase, a key enzyme in Trypanosoma cruzi pathogenesis.

Buschiazzo A, Amaya MF, Cremona ML, Frasch AC, Alzari PM.

Mol Cell. 2002 Oct;10(4):757-68.

11.

The trans-sialidase from the african trypanosome Trypanosoma brucei.

Montagna G, Cremona ML, Paris G, Amaya MF, Buschiazzo A, Alzari PM, Frasch AC.

Eur J Biochem. 2002 Jun;269(12):2941-50.

12.

Probing molecular function of trypanosomal sialidases: single point mutations can change substrate specificity and increase hydrolytic activity.

Paris G, Cremona ML, Amaya MF, Buschiazzo A, Giambiagi S, Frasch AC, Alzari PM.

Glycobiology. 2001 Apr;11(4):305-11.

PMID:
11358879
13.

Structural basis of sialyltransferase activity in trypanosomal sialidases.

Buschiazzo A, Tavares GA, Campetella O, Spinelli S, Cremona ML, París G, Amaya MF, Frasch AC, Alzari PM.

EMBO J. 2000 Jan 4;19(1):16-24.

14.

Enzymically inactive members of the trans-sialidase family from Trypanosoma cruzi display beta-galactose binding activity.

Cremona ML, Campetella O, Sánchez DO, Frasch AC.

Glycobiology. 1999 Jun;9(6):581-7.

PMID:
10336990
15.

Effect of primary structure modifications in Trypanosoma cruzi neuraminidase/trans-sialidase activities.

Cremona ML, Pollevick GD, Frasch AC, Campetella O.

Cell Mol Biol (Noisy-le-grand). 1996 Jul;42(5):697-702.

PMID:
8832101
16.

A single tyrosine differentiates active and inactive Trypanosoma cruzi trans-sialidases.

Cremona ML, Sánchez DO, Frasch AC, Campetella O.

Gene. 1995 Jul 4;160(1):123-8.

PMID:
7628705
17.

Sequence of a Trypanosoma rangeli gene closely related to Trypanosoma cruzi trans-sialidase.

Buschiazzo A, Cremona ML, Campetella O, Frasch AC, Sánchez DO.

Mol Biochem Parasitol. 1993 Nov;62(1):115-6. No abstract available.

PMID:
8114811
18.

Identification of toxigenic Vibrio cholerae from the Argentine outbreak by PCR for ctx A1 and ctx A2-B.

Varela P, Rivas M, Binsztein N, Cremona ML, Herrmann P, Burrone O, Ugalde RA, Frasch AC.

FEBS Lett. 1993 Jan 2;315(1):74-6.

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