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Tytuł:
Congenital disorders of glycosylation: narration of a story through its patents.
Autorzy:
Monticelli M; Department of Biology, University of Napoli 'Federico II', Complesso Universitario Monte Sant'Angelo, Via Cinthia, Napoli, 80126, Italy.; Institute of Biomolecular Chemistry ICB, CNR, Via Campi Flegrei 34, Pozzuoli, 80078, Italy.
D'Onofrio T; Department of Biology, University of Napoli 'Federico II', Complesso Universitario Monte Sant'Angelo, Via Cinthia, Napoli, 80126, Italy.; Institute of Biomolecular Chemistry ICB, CNR, Via Campi Flegrei 34, Pozzuoli, 80078, Italy.
Jaeken J; Center of Metabolic Diseases, KU Leuven, Leuven, Belgium.
Morava E; Department of Clinical Genomics and Laboratory of Medical Pathology, Mayo Clinic, Rochester, MN, USA.
Andreotti G; Institute of Biomolecular Chemistry ICB, CNR, Via Campi Flegrei 34, Pozzuoli, 80078, Italy. .
Cubellis MV; Department of Biology, University of Napoli 'Federico II', Complesso Universitario Monte Sant'Angelo, Via Cinthia, Napoli, 80126, Italy.; Institute of Biomolecular Chemistry ICB, CNR, Via Campi Flegrei 34, Pozzuoli, 80078, Italy.; Stazione Zoologica 'Anton Dohrn', Villa Comunale, Naples, Italy.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Aug 29; Vol. 18 (1), pp. 247. Date of Electronic Publication: 2023 Aug 29.
Typ publikacji:
Journal Article; Review; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Narration*
Congenital Disorders of Glycosylation*/diagnosis
Congenital Disorders of Glycosylation*/genetics
Humans ; Glycosylation ; Databases, Factual ; Exome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment.
Autorzy:
Larizza L; Experimental Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, 20145 Milan, Italy.
Cubellis MV; Dipartimento di Biologia, Università Federico II, 80126 Naples, Italy.; Biology and Evolution of Marine Organisms, Stazione Zoologica Anton Dohrn, Villa Comunale, 80121 Naples, Italy.; Istituto di Chimica Biomolecolare-CNR, 80078 Pozzuoli, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 May 22; Vol. 24 (10). Date of Electronic Publication: 2023 May 22.
Typ publikacji:
Editorial
MeSH Terms:
Rare Diseases*/diagnosis
Rare Diseases*/genetics
Rare Diseases*/therapy
Precision Medicine*
Humans
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease.
Autorzy:
Monticelli M; Department of Biology, University of Napoli 'Federico II', Complesso Universitario Monte Sant'Angelo, Via Cinthia, 80126 Napoli, Italy.; Institute of Biomolecular Chemistry ICB, CNR, Via Campi Flegrei 34, 80078 Pozzuoli, Italy.; Department of Environmental, Biological, and Pharmaceutical Sciences and Technologies (DiSTABiF), University of Campania 'Luigi Vanvitelli', Via Vivaldi 43, 81100 Caserta, Italy.
Hay Mele B; Department of Biology, University of Napoli 'Federico II', Complesso Universitario Monte Sant'Angelo, Via Cinthia, 80126 Napoli, Italy.
Allocca M; Institute of Biomolecular Chemistry ICB, CNR, Via Campi Flegrei 34, 80078 Pozzuoli, Italy.; Department of Environmental, Biological, and Pharmaceutical Sciences and Technologies (DiSTABiF), University of Campania 'Luigi Vanvitelli', Via Vivaldi 43, 81100 Caserta, Italy.
Liguori L; Institute of Biomolecular Chemistry ICB, CNR, Via Campi Flegrei 34, 80078 Pozzuoli, Italy.; Department of Environmental, Biological, and Pharmaceutical Sciences and Technologies (DiSTABiF), University of Campania 'Luigi Vanvitelli', Via Vivaldi 43, 81100 Caserta, Italy.
Lukas J; Translational Neurodegeneration Section 'Albrecht-Kossel', Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany.; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, 18147 Rostock, Germany.
Monti MC; Department of Pharmacy, University of Salerno, Via Giovanni Paolo II 132, 84084 Fisciano, Italy.
Morretta E; Department of Pharmacy, University of Salerno, Via Giovanni Paolo II 132, 84084 Fisciano, Italy.
Cubellis MV; Department of Biology, University of Napoli 'Federico II', Complesso Universitario Monte Sant'Angelo, Via Cinthia, 80126 Napoli, Italy.; Institute of Biomolecular Chemistry ICB, CNR, Via Campi Flegrei 34, 80078 Pozzuoli, Italy.
Andreotti G; Institute of Biomolecular Chemistry ICB, CNR, Via Campi Flegrei 34, 80078 Pozzuoli, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Jan 06; Vol. 24 (2). Date of Electronic Publication: 2023 Jan 06.
Typ publikacji:
Journal Article
MeSH Terms:
Fabry Disease*/drug therapy
Fabry Disease*/genetics
Curcumin*/pharmacology
Curcumin*/therapeutic use
Curcumin*/metabolism
Humans ; alpha-Galactosidase/metabolism ; Galactose/metabolism ; Mutation ; Lysosomes/metabolism ; 1-Deoxynojirimycin/pharmacology ; 1-Deoxynojirimycin/therapeutic use
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Autorzy:
Pignata L; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy.
Cecere F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy.; Institute of Genetics and Biophysics (IGB), 'Adriano Buzzati-Traverso', Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy.
Verma A; Institute of Genetics and Biophysics (IGB), 'Adriano Buzzati-Traverso', Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy.
Hay Mele B; Department of Biology, Università Degli Studi Di Napoli 'Federico II', Naples, Italy.
Monticelli M; Department of Biology, Università Degli Studi Di Napoli 'Federico II', Naples, Italy.
Acurzio B; Institute of Genetics and Biophysics (IGB), 'Adriano Buzzati-Traverso', Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy.
Giaccari C; Institute of Genetics and Biophysics (IGB), 'Adriano Buzzati-Traverso', Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy.
Sparago A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy.
Hernandez Mora JR; Cancer Epigenetic and Biology Program (PEBC), Imprinting and Cancer Group, Institut d'Investigació Biomedica de Bellvitge (IDIBELL), Avinguda Granvia, L'Hospitalet de Llobregat, Barcelona, Spain.
Monteagudo-Sánchez A; Cancer Epigenetic and Biology Program (PEBC), Imprinting and Cancer Group, Institut d'Investigació Biomedica de Bellvitge (IDIBELL), Avinguda Granvia, L'Hospitalet de Llobregat, Barcelona, Spain.
Esteller M; Josep Carreras Leukeamia Research Institute, Can Ruti, Cami de les Escoles, Badalona, Barcelona, Spain.; Centro de Investigacion Biomedica en Red Cancer (CIBERONC), Madrid, Spain.; Institucio Catalana de Recerca I Estudis Avançats (ICREA), Barcelona, Catalonia, Spain.; Physiological Sciences Department, School of Medicine and Health Sciences, University of Barcelona (UB), Barcelona, Catalonia, Spain.
Pereda A; Molecular (Epi)Genetics Laboratory, Rare Diseases Research Group, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, C/Jose Atxotegi s/n, 01009, Vitoria-Gasteiz, Spain.
Tenorio-Castano J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Institute of Medical and Molecular Genetics, INGEMM-Idipaz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.
Palumbo O; Division of Medical Genetics, Fondazione IRCCS 'Casa Sollievo Della Sofferenza', 71013, San Giovanni Rotondo, FG, Italy.
Carella M; Division of Medical Genetics, Fondazione IRCCS 'Casa Sollievo Della Sofferenza', 71013, San Giovanni Rotondo, FG, Italy.
Prontera P; Medical Genetics Unit, University and Hospital of Perugia, Perugia, Italy.
Piscopo C; Medical and Laboratory Genetics Unit, 'Antonio Cardarelli' Hospital, 80131, Naples, Italy.
Accadia M; Medical Genetics Service, Hospital 'Cardinale G. Panico', 73039, Tricase, Lecce, Italy.
Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Institute of Medical and Molecular Genetics, INGEMM-Idipaz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.
Cubellis MV; Department of Biology, Università Degli Studi Di Napoli 'Federico II', Naples, Italy.
de Nanclares GP; Molecular (Epi)Genetics Laboratory, Rare Diseases Research Group, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, C/Jose Atxotegi s/n, 01009, Vitoria-Gasteiz, Spain.
Monk D; Cancer Epigenetic and Biology Program (PEBC), Imprinting and Cancer Group, Institut d'Investigació Biomedica de Bellvitge (IDIBELL), Avinguda Granvia, L'Hospitalet de Llobregat, Barcelona, Spain.; School of Biological Sciences, University of East Anglia, Norwich, NR4 7TG, UK.
Riccio A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy. .; Institute of Genetics and Biophysics (IGB), 'Adriano Buzzati-Traverso', Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy. .
Cerrato F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy. .
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Źródło:
Clinical epigenetics [Clin Epigenetics] 2022 May 28; Vol. 14 (1), pp. 71. Date of Electronic Publication: 2022 May 28.
Typ publikacji:
Journal Article
MeSH Terms:
Beckwith-Wiedemann Syndrome*/diagnosis
Beckwith-Wiedemann Syndrome*/genetics
Pseudohypoparathyroidism*/genetics
DNA Methylation ; Genomic Imprinting ; Humans ; Proteins/genetics ; Pseudohypoparathyroidism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones.
Autorzy:
Monticelli M; Department Biology, University of Napoli « Federico II », Complesso Universitario Monte Sant'Angelo, Via Cinthia, 80126 Napoli, Italy.; Department Environmental, Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), University of Campania 'Luigi Vanvitelli', Via Vivaldi 43, 81100 Caserta, Italy.; Institute of Biomolecular Chemistry ICB, CNR, Via Campi Flegrei 34, 80078 Pozzuoli, Italy.
Liguori L; Department Environmental, Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), University of Campania 'Luigi Vanvitelli', Via Vivaldi 43, 81100 Caserta, Italy.
Allocca M; Department Environmental, Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), University of Campania 'Luigi Vanvitelli', Via Vivaldi 43, 81100 Caserta, Italy.; Institute of Biomolecular Chemistry ICB, CNR, Via Campi Flegrei 34, 80078 Pozzuoli, Italy.
Bosso A; Department Biology, University of Napoli « Federico II », Complesso Universitario Monte Sant'Angelo, Via Cinthia, 80126 Napoli, Italy.; Institute of Biochemistry and Cellular Biology, National Research Council, Via Pietro Castellino 111, 80131 Napoli, Italy.
Andreotti G; Institute of Biomolecular Chemistry ICB, CNR, Via Campi Flegrei 34, 80078 Pozzuoli, Italy.
Lukas J; Translational Neurodegeneration Section 'Albrecht-Kossel', Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany.; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, 18147 Rostock, Germany.
Monti MC; Department of Pharmacy, University of Salerno, Via Giovanni Paolo II 132, 84084 Fisciano, Italy.
Morretta E; Department of Pharmacy, University of Salerno, Via Giovanni Paolo II 132, 84084 Fisciano, Italy.
Cubellis MV; Department Biology, University of Napoli « Federico II », Complesso Universitario Monte Sant'Angelo, Via Cinthia, 80126 Napoli, Italy.; Institute of Biomolecular Chemistry ICB, CNR, Via Campi Flegrei 34, 80078 Pozzuoli, Italy.
Hay Mele B; Department Biology, University of Napoli « Federico II », Complesso Universitario Monte Sant'Angelo, Via Cinthia, 80126 Napoli, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 May 04; Vol. 23 (9). Date of Electronic Publication: 2022 May 04.
Typ publikacji:
Journal Article
MeSH Terms:
Fabry Disease*/drug therapy
Fabry Disease*/genetics
alpha-Galactosidase*/genetics
alpha-Galactosidase*/therapeutic use
1-Deoxynojirimycin/pharmacology ; 1-Deoxynojirimycin/therapeutic use ; Aspirin/pharmacology ; Aspirin/therapeutic use ; Drug Repositioning ; Humans ; Lysosomes ; Molecular Chaperones/genetics ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 50

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