Vanessa Pertegato
Overview
Explore the profile of Vanessa Pertegato including associated specialties, affiliations and a list of published articles.
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11
Citations
1030
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Recent Articles
1.
Dyar K, Hubert M, Mir A, Ciciliot S, Lutter D, Greulich F, et al.
PLoS Biol
. 2018 Aug;
16(8):e2005886.
PMID: 30096135
Circadian clocks are fundamental physiological regulators of energy homeostasis, but direct transcriptional targets of the muscle clock machinery are unknown. To understand how the muscle clock directs rhythmic metabolism, we...
2.
Spinazzi M, Casarin A, Pertegato V, Salviati L, Angelini C
Nat Protoc
. 2012 Jun;
7(6):1235-46.
PMID: 22653162
The assessment of mitochondrial respiratory chain (RC) enzymatic activities is essential for investigating mitochondrial function in several situations, including mitochondrial disorders, diabetes, cancer, aging and neurodegeneration, as well as for...
3.
Casarin A, Giorgi G, Pertegato V, Siviero R, Cerqua C, Doimo M, et al.
Orphanet J Rare Dis
. 2012 Apr;
7:21.
PMID: 22515166
Background: Mutations in SCO2 cause cytochrome c oxidase deficiency (COX) and a fatal infantile cardioencephalomyopathy. SCO2 encodes a protein involved in COX copper metabolism; supplementation with copper salts rescues the...
4.
Salviati L, Trevisson E, Rodriguez Hernandez M, Casarin A, Pertegato V, Doimo M, et al.
J Med Genet
. 2012 Feb;
49(3):187-91.
PMID: 22368301
Background: COQ4 encodes a protein that organises the multienzyme complex for the synthesis of coenzyme Q(10) (CoQ(10)). A 3.9 Mb deletion of chromosome 9q34.13 was identified in a 3-year-old boy...
5.
Spinazzi M, Casarin A, Pertegato V, Ermani M, Salviati L, Angelini C
Mitochondrion
. 2011 Aug;
11(6):893-904.
PMID: 21855655
The diagnosis of mitochondrial disorders is difficult due to clinical and genetic heterogeneity. Measurements of mitochondrial respiratory chain (RC) enzyme activities are essential for both clinical diagnoses and many basic...
6.
Heeringa S, Chernin G, Chaki M, Zhou W, Sloan A, Ji Z, et al.
J Clin Invest
. 2011 May;
121(5):2013-24.
PMID: 21540551
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some insights into its pathogenesis; however, additional genes and disease...
7.
Forzan M, Salviati L, Pertegato V, Casarin A, Bruson A, Trevisson E, et al.
J Hum Genet
. 2009 Nov;
55(1):23-6.
PMID: 19893581
The 621+3 A>G variant of the CFTR gene was initially detected in four Greek patients with a severe form of cystic fibrosis, and it is reported to impair CFTR mRNA...
8.
Trevisson E, Burlina A, Doimo M, Pertegato V, Casarin A, Cesaro L, et al.
J Biol Chem
. 2009 Aug;
284(42):28926-34.
PMID: 19703900
Deficiency of argininosuccinate lyase (ASL) causes argininosuccinic aciduria, an urea cycle defect that may present with a severe neonatal onset form or with a late onset phenotype. To date phenotype-genotype...
9.
Casarin A, Jimenez-Ortega J, Trevisson E, Pertegato V, Doimo M, Ferrero-Gomez M, et al.
Biochem Biophys Res Commun
. 2008 May;
372(1):35-9.
PMID: 18474229
Defects in genes involved in coenzyme Q (CoQ) biosynthesis cause primary CoQ deficiency, a severe multisystem disorders presenting as progressive encephalomyopathy and nephropathy. The COQ4 gene encodes an essential factor...
10.
Hernandez V, Bortolozzi M, Pertegato V, Beltramello M, Giarin M, Zaccolo M, et al.
Nat Methods
. 2007 Mar;
4(4):353-8.
PMID: 17351620
Gap junction channels assembled from connexin protein subunits mediate intercellular transfer of ions and metabolites. Impaired channel function is implicated in several hereditary human diseases. In particular, defective permeation of...