Carla Borri Voltattorni
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Explore the profile of Carla Borri Voltattorni including associated specialties, affiliations and a list of published articles.
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Recent Articles
1.
Floriani F, Borri Voltattorni C, Cellini B, Montioli R
Int J Mol Sci
. 2023 Feb;
24(4).
PMID: 36834788
Deficit of human ornithine aminotransferase (hOAT), a mitochondrial tetrameric pyridoxal-5'-phosphate (PLP) enzyme, leads to gyrate atrophy of the choroid and retina (GA). Although 70 pathogenic mutations have been identified, only...
2.
Montioli R, Sgaravizzi G, Desbats M, Grottelli S, Borri Voltattorni C, Salviati L, et al.
Front Mol Biosci
. 2021 Aug;
8:695205.
PMID: 34395527
The deficit of human ornithine aminotransferase (hOAT) is responsible for gyrate atrophy (GA), a rare recessive inherited disorder. Although more than 60 disease-associated mutations have been identified to date, the...
3.
Montioli R, Borri Voltattorni C
Int J Mol Sci
. 2021 Apr;
22(6).
PMID: 33808712
Aromatic amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive neurometabolic disorder caused by mutations in the gene, leading to a deficit of AADC, a pyridoxal 5'-phosphate requiring enzyme...
4.
Montioli R, Bellezza I, Desbats M, Borri Voltattorni C, Salviati L, Cellini B
Biochim Biophys Acta Proteins Proteom
. 2020 Oct;
1869(1):140555.
PMID: 33068755
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...
5.
Montioli R, Bisello G, Dindo M, Rossignoli G, Borri Voltattorni C, Bertoldi M
Arch Biochem Biophys
. 2020 Jan;
682:108263.
PMID: 31953134
AADC deficiency is a rare genetic disease caused by mutations in the gene of aromatic amino acid decarboxylase, the pyridoxal 5'-phosphate dependent enzyme responsible for the synthesis of dopamine and...
6.
Montioli R, Battini R, Paiardini A, Tolve M, Bertoldi M, Carducci C, et al.
Mol Genet Metab
. 2019 May;
127(2):132-137.
PMID: 31104889
Aromatic amino acid decarboxylase (AADC) deficiency is a rare autosomal neurometabolic disorder caused by a deficit of AADC, a pyridoxal 5'-phosphate (PLP)-dependent enzyme, which catalyzes the synthesis of dopamine and...
7.
Montioli R, Paiardini A, Giardina G, Zanzoni S, Cutruzzola F, Cellini B, et al.
FEBS J
. 2019 Apr;
286(14):2787-2798.
PMID: 30957963
Among the over 50 gyrate atrophy-causing mutations of ornithine δ-aminotransferase (OAT), the R180T involves an active site residue located at the dimer interface, which in the crystal structure of OAT...
8.
Rossignoli G, Grottesi A, Bisello G, Montioli R, Borri Voltattorni C, Paiardini A, et al.
Biochemistry
. 2018 Oct;
57(44):6336-6348.
PMID: 30346159
Histidine decarboxylase is a pyridoxal 5'-phosphate enzyme catalyzing the conversion of histidine to histamine, a bioactive molecule exerting its role in many modulatory processes. The human enzyme is involved in...
9.
Montioli R, Desbats M, Grottelli S, Doimo M, Bellezza I, Borri Voltattorni C, et al.
Biochim Biophys Acta Mol Basis Dis
. 2018 Sep;
1864(11):3629-3638.
PMID: 30251682
Gyrate atrophy (GA) is a rare recessive disorder characterized by progressive blindness, chorioretinal degeneration and systemic hyperornithinemia. GA is caused by point mutations in the gene encoding ornithine δ-aminotransferase (OAT),...
10.
Montioli R, Janson G, Paiardini A, Bertoldi M, Borri Voltattorni C
IUBMB Life
. 2018 Jan;
70(3):215-223.
PMID: 29356298
Aromatic amino acid or Dopa decarboxylase (AADC or DDC) is a homodimeric pyridoxal 5'-phosphate (PLP) enzyme responsible for the generation of the neurotransmitters dopamine and serotonin. AADC deficiency is a...