Detalhe da pesquisa
1.
Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer-Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina.
Int J Mol Sci
; 24(4)2023 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36834788
2.
Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations.
Mol Genet Metab
; 137(4): 359-381, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36427457
3.
Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins.
Mol Genet Metab
; 134(1-2): 147-155, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34479793
4.
Deciphering the fate of slan+ -monocytes in human tonsils by gene expression profiling.
FASEB J
; 34(7): 9269-9284, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413173
5.
Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.
Int J Mol Sci
; 22(6)2021 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33808712
6.
Dimerization of Human Angiogenin and of Variants Involved in Neurodegenerative Diseases.
Int J Mol Sci
; 22(18)2021 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34576228
7.
New variants of AADC deficiency expand the knowledge of enzymatic phenotypes.
Arch Biochem Biophys
; 682: 108263, 2020 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31953134
8.
A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies.
Mol Genet Metab
; 127(2): 132-137, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31104889
9.
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.
Mol Genet Metab
; 127(1): 12-22, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30952622
10.
Cysteine 180 Is a Redox Sensor Modulating the Activity of Human Pyridoxal 5'-Phosphate Histidine Decarboxylase.
Biochemistry
; 57(44): 6336-6348, 2018 11 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30346159
11.
Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations.
IUBMB Life
; 70(3): 215-223, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29356298
12.
Onconase dimerization through 3D domain swapping: structural investigations and increase in the apoptotic effect in cancer cells.
Biochem J
; 474(22): 3767-3781, 2017 11 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28963346
13.
The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency.
Biochim Biophys Acta
; 1864(6): 676-682, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26994895
14.
Caenorhabditis elegans AGXT-1 is a mitochondrial and temperature-adapted ortholog of peroxisomal human AGT1: New insights into between-species divergence in glyoxylate metabolism.
Biochim Biophys Acta
; 1864(9): 1195-1205, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27179589
15.
Extensive deamidation of RNase A inhibits its oligomerization through 3D domain swapping.
Biochim Biophys Acta Proteins Proteom
; 1865(1): 76-87, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27783927
16.
Liver peroxisomal alanine:glyoxylate aminotransferase and the effects of mutations associated with Primary Hyperoxaluria Type I: An overview.
Biochim Biophys Acta
; 1854(9): 1212-9, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25620715
17.
Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine.
Biochim Biophys Acta
; 1854(10 Pt A): 1280-9, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26149463
18.
A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications.
Hum Mol Genet
; 23(20): 5429-40, 2014 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24865461
19.
S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.
Hum Mol Genet
; 23(22): 5998-6007, 2014 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24990153
20.
Corrigendum to "Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook" [Mol Genet Metab. 2019 May;127(1):12-22].
Mol Genet Metab
; 134(1-2): 216, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34244047