Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene. (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene. (Articolo in rivista) (literal)

Anno

• 2012-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1002/humu.22093 (literal)

Alternative label

• Tang M, Facchiano A, Rachamadugu R, Calderon F, Mao R, Milanesi L, Marabotti A, Lai K (2012)
  Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.
  in Human mutation
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Tang M, Facchiano A, Rachamadugu R, Calderon F, Mao R, Milanesi L, Marabotti A, Lai K (literal)

Pagina inizio

• 1107 (literal)

Pagina fine

• 1115 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 33 (literal)

Rivista

• Human mutation (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 7 (literal)

Note

• PubMe (literal)
• ISI Web of Science (WOS) (literal)
• Scopu (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• TM, RR, LK: Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah; FA: Laboratory of Bioinformatics and Computational Biology, Institute of Food Science--CNR, Avellino, Italy; CF MR: ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah; ML, MA: Laboratory of Bioinformatics, Institute of Biomedical Technologies--CNR, Segrate, Italy (literal)

Titolo

• Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene. (literal)

Abstract

• Galactose-1-phosphate uridylyltransferase (GALT) catalyzes the conversion of galactose-1-phosphate to UDP-galactose, a key step in the galactose metabolism. Deficiency of GALT activity in humans caused by deleterious variations in the GALT gene can cause a potentially lethal disease called classic galactosemia. In this study, we selected 14 novel nucleotide sequence changes in the GALT genes found in galactosemic patients for expression analysis and molecular modeling. Several variants showed decreased levels of expression and decreased abundance in the soluble fraction of the Escherichia coli cell extracts, suggesting altered stability and solubility. Only six variant GALT enzymes had detectable enzymatic activities. Kinetic studies showed that their V max decreased significantly. To further characterize the variants at molecular level, we performed static and dynamic molecular modeling studies. Effects of variations on local and/or global structural features of the enzyme were anticipated for the majority of variants. In-depth studies with molecular dynamic simulations on selected variants predicted the alteration of the protein structure even though static models apparently did not highlight any perturbation. Overall, these studies offered new insights on the molecular properties of GALT enzyme, with the aim of correlating them with the clinical outcome. (literal)

Prodotto di

• Institute of food sciences (ISA) (Istituto)
• Bioinformatica per lo studio di patologie umane, intolleranze alimentari e sicurezza alimentare (INT.P02.006.001) (Modulo)

Autore CNR

• ANNA MARABOTTI (Unità di personale esterno)
• LUCIANO MILANESI (Persona)
• ANGELO FACCHIANO (Unità di personale interno)

Incoming links:

Prodotto

• Institute of food sciences (ISA) (Istituto)
• Bioinformatica per lo studio di patologie umane, intolleranze alimentari e sicurezza alimentare (INT.P02.006.001) (Modulo)

Autore CNR di

• LUCIANO MILANESI (Persona)
• ANGELO FACCHIANO (Unità di personale interno)
• ANNA MARABOTTI (Unità di personale esterno)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Human mutation (Rivista)