Tatti M - Search Results

1

Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.

Ziccardi L, Niceta M, Stellacci E, Ciolfi A, Tatti M, Bruselles A, Mancini C, Barbano L, Cecchetti S, Costanzo E, Cappa M, Parravano M, Varano M, Tartaglia M, Cordeddu V. Ziccardi L, et al. Among authors: tatti m. Int J Mol Sci. 2022 Nov 24;23(23):14656. doi: 10.3390/ijms232314656. Int J Mol Sci. 2022. PMID: 36498982 Free PMC article.

2

Saposin D solubilizes anionic phospholipid-containing membranes.

Ciaffoni F, Salvioli R, Tatti M, Arancia G, Crateri P, Vaccaro AM. Ciaffoni F, et al. Among authors: tatti m. J Biol Chem. 2001 Aug 24;276(34):31583-9. doi: 10.1074/jbc.M102736200. Epub 2001 Jun 13. J Biol Chem. 2001. PMID: 11406625 Free article.

3

The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C.

Salvioli R, Tatti M, Scarpa S, Moavero SM, Ciaffoni F, Felicetti F, Kaneski CR, Brady RO, Vaccaro AM. Salvioli R, et al. Among authors: tatti m. Biochem J. 2005 Aug 15;390(Pt 1):95-103. doi: 10.1042/BJ20050325. Biochem J. 2005. PMID: 15826241 Free PMC article.

4

Efficient one-step chromatographic purification and functional characterization of recombinant human Saposin C.

Motta M, Tatti M, Martinelli S, Camerini S, Scarpa S, Crescenzi M, Tartaglia M, Salvioli R. Motta M, et al. Among authors: tatti m. Protein Expr Purif. 2011 Aug;78(2):209-15. doi: 10.1016/j.pep.2011.03.015. Epub 2011 Apr 2. Protein Expr Purif. 2011. PMID: 21463688

5

Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.

Motta M, Camerini S, Tatti M, Casella M, Torreri P, Crescenzi M, Tartaglia M, Salvioli R. Motta M, et al. Among authors: tatti m. Hum Mol Genet. 2014 Nov 1;23(21):5814-26. doi: 10.1093/hmg/ddu299. Epub 2014 Jun 12. Hum Mol Genet. 2014. PMID: 24925315

6

BCM-95 and (2-hydroxypropyl)-β-cyclodextrin reverse autophagy dysfunction and deplete stored lipids in Sap C-deficient fibroblasts.

Tatti M, Motta M, Scarpa S, Di Bartolomeo S, Cianfanelli V, Tartaglia M, Salvioli R. Tatti M, et al. Hum Mol Genet. 2015 Aug 1;24(15):4198-211. doi: 10.1093/hmg/ddv153. Epub 2015 Apr 29. Hum Mol Genet. 2015. PMID: 25926625

7

Clinical, biochemical and molecular characterization of prosaposin deficiency.

Motta M, Tatti M, Furlan F, Celato A, Di Fruscio G, Polo G, Manara R, Nigro V, Tartaglia M, Burlina A, Salvioli R. Motta M, et al. Among authors: tatti m. Clin Genet. 2016 Sep;90(3):220-9. doi: 10.1111/cge.12753. Epub 2016 Feb 19. Clin Genet. 2016. PMID: 26831127

8

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.

Cordeddu V, Macke EL, Radio FC, Lo Cicero S, Pantaleoni F, Tatti M, Bellacchio E, Ciolfi A, Agolini E, Bruselles A, Brunetti-Pierri N, Suri M, Josephs KS, McEntagart M, Lanpher B, Nickels KC, Haworth A, Reed L, Cappuccio G, Mammi I, Tarnowski JM, Novelli A; Deciphering Developmental Disorders Study; Melis D, Callewaert B, Dallapiccola B, Klee E, Tartaglia M. Cordeddu V, et al. Among authors: tatti m. Clin Genet. 2020 Aug;98(2):172-178. doi: 10.1111/cge.13775. Epub 2020 Jun 3. Clin Genet. 2020. PMID: 32415735

9

Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.

Carpentieri G, Leoni C, Pietraforte D, Cecchetti S, Iorio E, Belardo A, Pietrucci D, Di Nottia M, Pajalunga D, Megiorni F, Mercurio L, Tatti M, Camero S, Marchese C, Rizza T, Tirelli V, Onesimo R, Carrozzo R, Rinalducci S, Chillemi G, Zampino G, Tartaglia M, Flex E. Carpentieri G, et al. Among authors: tatti m. Hum Mol Genet. 2022 Feb 21;31(4):561-575. doi: 10.1093/hmg/ddab270. Hum Mol Genet. 2022. PMID: 34508588

10

Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting.

Vaccaro AM, Motta M, Tatti M, Scarpa S, Masuelli L, Bhat M, Vanier MT, Tylki-Szymanska A, Salvioli R. Vaccaro AM, et al. Among authors: tatti m. Hum Mol Genet. 2010 Aug 1;19(15):2987-97. doi: 10.1093/hmg/ddq204. Epub 2010 May 19. Hum Mol Genet. 2010. PMID: 20484222

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