| Title : 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency - Rokicki_2017_Clin.Chim.Acta_471_95 |
| Author(s) : Rokicki D , Pajdowska M , Trubicka J , Thong MK , Ciara E , Piekutowska-Abramczuk D , Pronicki M , Sikora R , Haidar R , Oltarzewski M , Jablonska E , Muthukumarasamy P , Sthaneswar P , Gan CS , Krajewska-Walasek M , Carrozzo R , Verrigni D , Semeraro M , Rizzo C , Taurisano R , Alhaddad B , Kovacs-Nagy R , Haack TB , Dionisi-Vici C , Pronicka E , Wortmann SB |
| Ref : Clinica Chimica Acta , 471 :95 , 2017 |
| Abstract : |
| PubMedSearch : Rokicki_2017_Clin.Chim.Acta_471_95 |
| PubMedID: 28526534 |
| Title : The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells - Pezzini_2017_Front.Mol.Neurosci_10_266 |
| Author(s) : Pezzini F , Bianchi M , Benfatto S , Griggio F , Doccini S , Carrozzo R , Dapkunas A , Delledonne M , Santorelli FM , Lalowski MM , Simonati A |
| Ref : Front Mol Neurosci , 10 :266 , 2017 |
| Abstract : |
| PubMedSearch : Pezzini_2017_Front.Mol.Neurosci_10_266 |
| PubMedID: 28878621 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Involvement of the mitochondrial compartment in human NCL fibroblasts - Pezzini_2011_Biochem.Biophys.Res.Commun_416_159 |
| Author(s) : Pezzini F , Gismondi F , Tessa A , Tonin P , Carrozzo R , Mole SE , Santorelli FM , Simonati A |
| Ref : Biochemical & Biophysical Research Communications , 416 :159 , 2011 |
| Abstract : |
| PubMedSearch : Pezzini_2011_Biochem.Biophys.Res.Commun_416_159 |
| PubMedID: 22100646 |
| Gene_locus related to this paper: human-PPT1 |