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

Autor: Fulvio Floriani, Carla Borri Voltattorni, Barbara Cellini, Riccardo Montioli

Publikováno v: International Journal of Molecular Sciences, Vol 24, Iss 4, p 3369 (2023)

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 few enzymatic ph

Externí odkaz: https://doaj.org/article/1592cd27df2341fa9b556e9bb47b998c

Dimerization of Human Angiogenin and of Variants Involved in Neurodegenerative Diseases

Autor: Sabrina Fasoli, Ilaria Bettin, Riccardo Montioli, Andrea Fagagnini, Daniele Peterle, Douglas V. Laurents, Giovanni Gotte

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 18, p 10068 (2021)

Human Angiogenin (hANG, or ANG, 14.1 kDa) promotes vessel formation and is also called RNase 5 because it is included in the pancreatic-type ribonuclease (pt-RNase) super-family. Although low, its ribonucleolytic activity is crucial for angiogenesis

Externí odkaz: https://doaj.org/article/fbdb8c86383f490e916310fa40a0a33e

RNase A Domain-Swapped Dimers Produced Through Different Methods: Structure–Catalytic Properties and Antitumor Activity

Autor: Riccardo Montioli, Rachele Campagnari, Sabrina Fasoli, Andrea Fagagnini, Andra Caloiu, Marcello Smania, Marta Menegazzi, Giovanni Gotte

Publikováno v: Life, Vol 11, Iss 2, p 168 (2021)

Upon oligomerization, RNase A can acquire important properties, such as cytotoxicity against leukemic cells. When lyophilized from 40% acetic acid solutions, the enzyme self-associates through the so-called three-dimensional domain swapping (3D-DS) m

Externí odkaz: https://doaj.org/article/728fafd679174371a2d75da9c25bd661

Dimerization of Human Angiogenin and of Variants Involved in Neurodegenerative Diseases

Autor: Andrea Fagagnini, Douglas V. Laurents, Sabrina Fasoli, Giovanni Gotte, Ilaria Bettin, Daniele Peterle, Riccardo Montioli

Publikováno v: International Journal of Molecular Sciences
Digital.CSIC. Repositorio Institucional del CSIC
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International Journal of Molecular Sciences, Vol 22, Iss 10068, p 10068 (2021)
Volume 22
Issue 18

18 pags., 6 figs., 1 tab.-- This article belongs to the Special Issue Protein Oligomerization
Human Angiogenin (hANG, or ANG, 14.1 kDa) promotes vessel formation and is also called RNase 5 because it is included in the pancreatic-type ribonuclea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b99974101dc30e7968ed6b4633505e04
https://pubmed.ncbi.nlm.nih.gov/34576228

Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook

Autor: Vincenzo Leuzzi, Beat Thöny, Todd Berner, Georg F. Hoffmann, Mariarita Bertoldi, Carla Carducci, Corinne Gemperle, Keith Hyland, Nenad Blau, Carla Borri Voltattorni, Riccardo Montioli, Nastassja Himmelreich

Publikováno v: Web of Science

Aromatic- l -amino acid decarboxylase (AADC) deficiency is an ultra-rare inherited autosomal recessive disorder characterized by sharply reduced synthesis of dopamine as well as other neurotransmitters. Symptoms, including hypotonia and movement diso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e44a16c4a1ffd6af2576f0c34d36b56
https://doi.org/10.1016/j.ymgme.2019.03.009