Petruzzella V - Search Results

1

A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.

Petruzzella V, Vergari R, Puzziferri I, Boffoli D, Lamantea E, Zeviani M, Papa S. Petruzzella V, et al. Hum Mol Genet. 2001 Mar 1;10(5):529-35. doi: 10.1093/hmg/10.5.529. Hum Mol Genet. 2001. PMID: 11181577

2

Disorders of nuclear-mitochondrial intergenomic signalling.

Zeviani M, Petruzzella V, Carrozzo R. Zeviani M, et al. Among authors: petruzzella v. J Bioenerg Biomembr. 1997 Apr;29(2):121-30. doi: 10.1023/a:1022633912917. J Bioenerg Biomembr. 1997. PMID: 9239538 Review.

3

A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.

Santorelli FM, Bertini E, Petruzzella V, Di Capua M, Calvieri S, Gasparini P, Zeviani M. Santorelli FM, et al. Among authors: petruzzella v. Biochem Biophys Res Commun. 1998 Apr 17;245(2):519-22. doi: 10.1006/bbrc.1998.8484. Biochem Biophys Res Commun. 1998. PMID: 9571187

4

Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.

Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R, Zeviani M. Petruzzella V, et al. Genomics. 1998 Dec 15;54(3):494-504. doi: 10.1006/geno.1998.5580. Genomics. 1998. PMID: 9878253

5

The NADH: ubiquinone oxidoreductase (complex I) of the mammalian respiratory chain and the cAMP cascade.

Papa S, Sardanelli AM, Scacco S, Petruzzella V, Technikova-Dobrova Z, Vergari R, Signorile A. Papa S, et al. Among authors: petruzzella v. J Bioenerg Biomembr. 2002 Feb;34(1):1-10. doi: 10.1023/a:1013863018115. J Bioenerg Biomembr. 2002. PMID: 11860175 Review.

6

Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene.

Petruzzella V, Papa S. Petruzzella V, et al. Gene. 2002 Mar 6;286(1):149-54. doi: 10.1016/s0378-1119(01)00810-1. Gene. 2002. PMID: 11943471 Review.

7

Complex I and the cAMP cascade in human physiopathology.

Papa S, Scacco S, Sardanelli AM, Petruzzella V, Vergari R, Signorile A, Technikova-Dobrova Z. Papa S, et al. Among authors: petruzzella v. Biosci Rep. 2002 Feb;22(1):3-16. doi: 10.1023/a:1016004921277. Biosci Rep. 2002. PMID: 12418547 Review.

8

Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex.

Scacco S, Petruzzella V, Budde S, Vergari R, Tamborra R, Panelli D, van den Heuvel LP, Smeitink JA, Papa S. Scacco S, et al. Among authors: petruzzella v. J Biol Chem. 2003 Nov 7;278(45):44161-7. doi: 10.1074/jbc.M307615200. Epub 2003 Aug 27. J Biol Chem. 2003. PMID: 12944388 Free article.

9

Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit.

Petruzzella V, Di Giacinto G, Scacco S, Piemonte F, Torraco A, Carrozzo R, Vergari R, Dionisi-Vici C, Longo D, Tessa A, Papa S, Bertini E. Petruzzella V, et al. Neurology. 2003 Oct 14;61(7):1017-8. doi: 10.1212/01.wnl.0000080363.10902.e9. Neurology. 2003. PMID: 14557590 No abstract available.

10

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.

Budde SM, van den Heuvel LP, Smeets RJ, Skladal D, Mayr JA, Boelen C, Petruzzella V, Papa S, Smeitink JA. Budde SM, et al. Among authors: petruzzella v. J Inherit Metab Dis. 2003;26(8):813-5. doi: 10.1023/b:boli.0000010003.14113.af. J Inherit Metab Dis. 2003. PMID: 14765537

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

77 results

Search Page

Filters