Pubblicazioni

Autori:

Montioli, Riccardo; Bellezza, Ilaria; Desbats, Maria Andrea; Voltattorni, Carla Borri; Salviati, Leonardo; Cellini, Barbara

Titolo:

Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects

Anno:

2021

Tipologia prodotto:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Lingua:

Inglese

Formato:

Elettronico

Referee:

Sì

Nome rivista:

BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

ISSN Rivista:

1570-9639

N° Volume:

1869

Numero o Fascicolo:

140555

Intervallo pagine:

1-11

Parole chiave:

Gyrate atrophy of the choroid and retina; Ornithine aminotransferase; Pathogenic variants; Pyridoxal phosphate; Retinal cells; Vitamin B6

Breve descrizione dei contenuti:

Gyrate Atrophy (GA) of the choroid and retina (MIM# 258870) is an autosomal recessive disorder due to mutations of the OAT gene encoding ornithine-delta-aminotransferase (OAT), associated with progressive retinal deterioration and blindness. The disease has a theoretical global incidence of approximately 1:1,500,000. OAT is mainly involved in ornithine catabolism in adults, thus explaining the hyperornithinemia as hallmark of the disease. Patients are treated with an arginine-restricted diet, to limit ornithine load, or the administration of Vitamin B6, a precursor of the OAT coenzyme pyridoxal phosphate. Although the clinical and genetic aspects of GA are known for many years, the enzymatic phenotype of pathogenic variants and their response to Vitamin B6, as well as the molecular mechanisms explaining retinal damage, are poorly clarified. Herein, we provide an overview of the current knowledge on the biochemical properties of human OAT and on the molecular, cellular, and clinical aspects of GA.

Pagina Web:

https://doi.org/10.1016/j.bbapap.2020.140555

Id prodotto:

116789

Handle IRIS:

11562/1027394

ultima modifica:

18 novembre 2022

Citazione bibliografica:

Montioli, Riccardo; Bellezza, Ilaria; Desbats, Maria Andrea; Voltattorni, Carla Borri; Salviati, Leonardo; Cellini, Barbara, Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects «BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS» , vol. 1869 , n. 140555 , 2021 , pp. 1-11

Consulta la scheda completa presente nel repository istituzionale della Ricerca di Ateneo