Santorelli FM - Search Results

1

Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene.

Bornstein B, Mas JA, Patrono C, Fernández-Moreno MA, González-Vioque E, Campos Y, Carrozzo R, Martín MA, del Hoyo P, Santorelli FM, Arenas J, Garesse R. Bornstein B, et al. Among authors: santorelli fm. Biochem J. 2005 May 1;387(Pt 3):773-8. doi: 10.1042/BJ20040949. Biochem J. 2005. PMID: 15554876 Free PMC article.

2

A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers.

Arenas J, Campos Y, Bornstein B, Ribacoba R, Martín MA, Rubio JC, Santorelli FM, Zeviani M, DiMauro S, Garesse R. Arenas J, et al. Among authors: santorelli fm. Neurology. 1999 Jan 15;52(2):377-82. doi: 10.1212/wnl.52.2.377. Neurology. 1999. PMID: 9932960

3

A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy.

Cassandrini D, Calevo MG, Tessa A, Manfredi G, Fattori F, Meschini MC, Carrozzo R, Tonoli E, Pedemonte M, Minetti C, Zara F, Santorelli FM, Bruno C. Cassandrini D, et al. Among authors: santorelli fm. Biochem Biophys Res Commun. 2006 Apr 7;342(2):387-93. doi: 10.1016/j.bbrc.2006.01.152. Epub 2006 Feb 8. Biochem Biophys Res Commun. 2006. PMID: 16483543

4

Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes.

Curbo S, Lagier-Tourenne C, Carrozzo R, Palenzuela L, Lucioli S, Hirano M, Santorelli F, Arenas J, Karlsson A, Johansson M. Curbo S, et al. Genomics. 2006 Mar;87(3):410-6. doi: 10.1016/j.ygeno.2005.09.017. Epub 2005 Nov 21. Genomics. 2006. PMID: 16300924 Free article.

5

Infantile-onset disorders of mitochondrial replication and protein synthesis.

Nogueira C, Carrozzo R, Vilarinho L, Santorelli FM. Nogueira C, et al. Among authors: santorelli fm. J Child Neurol. 2011 Jul;26(7):866-75. doi: 10.1177/0883073811402072. Epub 2011 May 13. J Child Neurol. 2011. PMID: 21572058 Review.

6

Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene.

Vazquez-Memije ME, Rizza T, Meschini MC, Nesti C, Santorelli FM, Carrozzo R. Vazquez-Memije ME, et al. Among authors: santorelli fm. J Cell Biochem. 2009 Apr 1;106(5):878-86. doi: 10.1002/jcb.22055. J Cell Biochem. 2009. PMID: 19160410

7

Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene.

El-Hafidi M, Meschini MC, Rizza T, Santorelli FM, Bertini E, Carrozzo R, Vázquez-Memije ME. El-Hafidi M, et al. Among authors: santorelli fm. J Bioenerg Biomembr. 2011 Dec;43(6):683-90. doi: 10.1007/s10863-011-9387-y. Epub 2011 Oct 13. J Bioenerg Biomembr. 2011. PMID: 21993659

8

Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders.

Rizza T, Vazquez-Memije ME, Meschini MC, Bianchi M, Tozzi G, Nesti C, Piemonte F, Bertini E, Santorelli FM, Carrozzo R. Rizza T, et al. Among authors: santorelli fm. Biochem Biophys Res Commun. 2009 May 22;383(1):58-62. doi: 10.1016/j.bbrc.2009.03.121. Epub 2009 Mar 28. Biochem Biophys Res Commun. 2009. PMID: 19332025

9

Mutation analysis in 16 patients with mtDNA depletion.

Carrozzo R, Bornstein B, Lucioli S, Campos Y, de la Pena P, Petit N, Dionisi-Vici C, Vilarinho L, Rizza T, Bertini E, Garesse R, Santorelli FM, Arenas J. Carrozzo R, et al. Among authors: santorelli fm. Hum Mutat. 2003 Apr;21(4):453-4. doi: 10.1002/humu.9135. Hum Mutat. 2003. PMID: 12655576

10

Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy.

Bianchi M, Rizza T, Verrigni D, Martinelli D, Tozzi G, Torraco A, Piemonte F, Dionisi-Vici C, Nobili V, Francalanci P, Boldrini R, Callea F, Santorelli FM, Bertini E, Carrozzo R. Bianchi M, et al. Among authors: santorelli fm. Biochem Biophys Res Commun. 2011 Nov 18;415(2):300-4. doi: 10.1016/j.bbrc.2011.10.049. Epub 2011 Oct 18. Biochem Biophys Res Commun. 2011. PMID: 22027147 Free PMC article.

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