Stella L - Search Results

1

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl^-/H⁺-Exchanger, Causes Early-Onset Neurodegeneration.

Polovitskaya MM, Barbini C, Martinelli D, Harms FL, Cole FS, Calligari P, Bocchinfuso G, Stella L, Ciolfi A, Niceta M, Rizza T, Shinawi M, Sisco K, Johannsen J, Denecke J, Carrozzo R, Wegner DJ, Kutsche K, Tartaglia M, Jentsch TJ. Polovitskaya MM, et al. Among authors: stella l. Am J Hum Genet. 2020 Dec 3;107(6):1062-1077. doi: 10.1016/j.ajhg.2020.11.004. Epub 2020 Nov 19. Am J Hum Genet. 2020. PMID: 33217309 Free PMC article.

2

Dynamics of formation of a helix-turn-helix structure in a membrane-active peptide: a time-resolved spectroscopic study.

Venanzi M, Gatto E, Bocchinfuso G, Palleschi A, Stella L, Formaggio F, Toniolo C. Venanzi M, et al. Among authors: stella l. Chembiochem. 2006 Jan;7(1):43-5. doi: 10.1002/cbic.200500271. Chembiochem. 2006. PMID: 16307465 No abstract available.

3

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, Cordeddu V, Zampino G, Burgt Iv, Palleschi A, Petrucci TC, Sorcini M, Schoch C, Foa R, Emanuel PD, Gelb BD. Tartaglia M, et al. Among authors: stella l. Am J Hum Genet. 2006 Feb;78(2):279-90. doi: 10.1086/499925. Epub 2005 Dec 7. Am J Hum Genet. 2006. PMID: 16358218 Free PMC article.

4

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.

Carta C, Pantaleoni F, Bocchinfuso G, Stella L, Vasta I, Sarkozy A, Digilio C, Palleschi A, Pizzuti A, Grammatico P, Zampino G, Dallapiccola B, Gelb BD, Tartaglia M. Carta C, et al. Among authors: stella l. Am J Hum Genet. 2006 Jul;79(1):129-35. doi: 10.1086/504394. Epub 2006 May 1. Am J Hum Genet. 2006. PMID: 16773572 Free PMC article.

5

Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2.

Bocchinfuso G, Stella L, Martinelli S, Flex E, Carta C, Pantaleoni F, Pispisa B, Venanzi M, Tartaglia M, Palleschi A. Bocchinfuso G, et al. Among authors: stella l. Proteins. 2007 Mar 1;66(4):963-74. doi: 10.1002/prot.21050. Proteins. 2007. PMID: 17177198

6

Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.

Martinelli S, Torreri P, Tinti M, Stella L, Bocchinfuso G, Flex E, Grottesi A, Ceccarini M, Palleschi A, Cesareni G, Castagnoli L, Petrucci TC, Gelb BD, Tartaglia M. Martinelli S, et al. Among authors: stella l. Hum Mol Genet. 2008 Jul 1;17(13):2018-29. doi: 10.1093/hmg/ddn099. Epub 2008 Mar 27. Hum Mol Genet. 2008. PMID: 18372317 Free PMC article.

7

Metal binding properties of fluorescent analogues of trichogin GA IV: a conformational study by time-resolved spectroscopy and molecular mechanics investigations.

Venanzi M, Bocchinfuso G, Gatto E, Palleschi A, Stella L, Formaggio F, Toniolo C. Venanzi M, et al. Among authors: stella l. Chembiochem. 2009 Jan 5;10(1):91-7. doi: 10.1002/cbic.200800617. Chembiochem. 2009. PMID: 19067458

8

Antimicrobial peptides chelating lanthanide ions: the case of trichogin GA IV analogues and terbium(III).

Venanzi M, Gatto E, Stella L, Bocchinfuso G, Palleschi A, Formaggio F, Toniolo C. Venanzi M, et al. Among authors: stella l. Adv Exp Med Biol. 2009;611:43-4. doi: 10.1007/978-0-387-73657-0_19. Adv Exp Med Biol. 2009. PMID: 19400086 No abstract available.

9

Monitoring peptide folding by time-resolved spectroscopies: the effect of a single Gly to Aib substitution.

Venanzi M, Gatto E, Bocchinfuso G, Palleschi A, Stella L, Baldini C, Formaggio F, Toniolo C, Pispisa B. Venanzi M, et al. Among authors: stella l. Adv Exp Med Biol. 2009;611:47-8. doi: 10.1007/978-0-387-73657-0_21. Adv Exp Med Biol. 2009. PMID: 19400088 No abstract available.

10

Different mechanisms of action of antimicrobial peptides: insights from fluorescence spectroscopy experiments and molecular dynamics simulations.

Bocchinfuso G, Palleschi A, Orioni B, Grande G, Formaggio F, Toniolo C, Park Y, Hahm KS, Stella L. Bocchinfuso G, et al. Among authors: stella l. J Pept Sci. 2009 Sep;15(9):550-8. doi: 10.1002/psc.1144. J Pept Sci. 2009. PMID: 19455510

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