Tartaglia M - Search Results

1

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: tartaglia m. Clin Genet. 2016 Sep;90(3):220-9. doi: 10.1111/cge.12753. Epub 2016 Feb 19. Clin Genet. 2016. PMID: 26831127

2

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: tartaglia 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

3

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: tartaglia 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

4

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. Among authors: tartaglia m. 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

5

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

Barresi S, Niceta M, Alfieri P, Brankovic V, Piccini G, Bruselles A, Barone MR, Cusmai R, Tartaglia M, Bertini E, Zanni G. Barresi S, et al. Among authors: tartaglia m. Clin Genet. 2017 Jan;91(1):86-91. doi: 10.1111/cge.12783. Epub 2016 May 11. Clin Genet. 2017. PMID: 27062503

6

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

Torraco A, Bianchi M, Verrigni D, Gelmetti V, Riley L, Niceta M, Martinelli D, Montanari A, Guo Y, Rizza T, Diodato D, Di Nottia M, Lucarelli B, Sorrentino F, Piemonte F, Francisci S, Tartaglia M, Valente EM, Dionisi-Vici C, Christodoulou J, Bertini E, Carrozzo R. Torraco A, et al. Among authors: tartaglia m. Clin Genet. 2017 Mar;91(3):441-447. doi: 10.1111/cge.12790. Epub 2016 May 25. Clin Genet. 2017. PMID: 27102574

7

SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling.

Motta M, Chillemi G, Fodale V, Cecchetti S, Coppola S, Stipo S, Cordeddu V, Macioce P, Gelb BD, Tartaglia M. Motta M, et al. Among authors: tartaglia m. Hum Mol Genet. 2016 Sep 1;25(17):3824-3835. doi: 10.1093/hmg/ddw229. Epub 2016 Jul 27. Hum Mol Genet. 2016. PMID: 27466182

8

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

Sferra A, Baillat G, Rizza T, Barresi S, Flex E, Tasca G, D'Amico A, Bellacchio E, Ciolfi A, Caputo V, Cecchetti S, Torella A, Zanni G, Diodato D, Piermarini E, Niceta M, Coppola A, Tedeschi E, Martinelli D, Dionisi-Vici C, Nigro V, Dallapiccola B, Compagnucci C, Tartaglia M, Haase G, Bertini E. Sferra A, et al. Among authors: tartaglia m. Am J Hum Genet. 2016 Oct 6;99(4):974-983. doi: 10.1016/j.ajhg.2016.08.006. Epub 2016 Sep 22. Am J Hum Genet. 2016. PMID: 27666369 Free PMC article.

9

Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.

Pode-Shakked B, Barash H, Ziv L, Gripp KW, Flex E, Barel O, Carvalho KS, Scavina M, Chillemi G, Niceta M, Eyal E, Kol N, Ben-Zeev B, Bar-Yosef O, Marek-Yagel D, Bertini E, Duker AL, Anikster Y, Tartaglia M, Raas-Rothschild A. Pode-Shakked B, et al. Among authors: tartaglia m. Clin Genet. 2017 May;91(5):725-738. doi: 10.1111/cge.12914. Epub 2016 Dec 16. Clin Genet. 2017. PMID: 27807845

10

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.

Dentici ML, Barresi S, Niceta M, Pantaleoni F, Pizzi S, Dallapiccola B, Tartaglia M, Digilio MC. Dentici ML, et al. Among authors: tartaglia m. Clin Genet. 2018 Feb;93(2):401-407. doi: 10.1111/cge.13029. Epub 2017 Apr 25. Clin Genet. 2018. PMID: 28374925

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