المؤلفون: Wibom, R, Lasorsa, FM, Tohonen, V, Barbaro, M, Sterky, FH, Kucinski, T, Naess, K, Jonsson, M, Pierri, CL, Palmieri, F, Wedell, A

المصدر: The New England journal of medicine. 361(5):489-495

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:119134391

المؤلفون: Curcio, R, Muto, L, Pierri, Cl, Montalto, A, Lauria, G, Onofrio, A, Fiorillo, M, Fiermonte, G, Vozza, A, Cappello, AR, Dolce, V., LUNETTI, PAOLA, CAPOBIANCO, Loredana

المساهمون: Curcio, R, Muto, L, Pierri, Cl, Montalto, A, Lauria, G, Onofrio, A, Fiorillo, M, Fiermonte, G, Lunetti, Paola, Vozza, A, Capobianco, Loredana, Cappello, Ar, Dolce, V.

مصطلحات موضوعية: Comparative modeling, Oxoglutarate carrier, Site-directed mutagenesis, Structural rearrangement, Substrate translocation

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______4034::abe2b399dfe93a17942974cd00971460
https://hdl.handle.net/11587/403765

المؤلفون: De Paola D, Blanco E, Pierri CL, Sonnante G.

المصدر: Plant physiology and biochemistry (Paris) 12 (2012): 45–53.
info:cnr-pdr/source/autori:De Paola D, Blanco E, Pierri CL, Sonnante G./titolo:Isolation and characterization of novel variants of BBI coding genes from the legume Lathyrus sativus/doi:/rivista:Plant physiology and biochemistry (Paris)/anno:2012/pagina_da:45/pagina_a:53/intervallo_pagine:45–53/volume:12

URL الوصول: https://explore.openaire.eu/search/publication?articleId=cnr_________::b1768e431062f2b0a991d0d9e9184313
https://publications.cnr.it/doc/188470

المؤلفون: Fiermonte G, Parisi G, Martinelli D, De Leonardis F, Torre G, Pierri CL, Saccari A, Lasorsa FM, Vozza A, Palmieri F, Dionisi-Vici C.

المصدر: Molecular genetics and metabolism
info:cnr-pdr/source/autori:Fiermonte G, Parisi G, Martinelli D, De Leonardis F, Torre G, Pierri CL, Saccari A, Lasorsa FM, Vozza A, Palmieri F, Dionisi-Vici C./titolo:A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): A clinical, molecular, and functional study./doi:/rivista:Molecular genetics and metabolism (Print)/anno:2011/pagina_da:501/pagina_a:506/intervallo_pagine:501–506/volume:104

URL الوصول: https://explore.openaire.eu/search/publication?articleId=cnr_________::036e648547048b5145c0b250ff51b06c
http://www.cnr.it/prodotto/i/12939

المؤلفون: Wedell, A, Lasorsa, FM, Tohonen, V, Barbaro, M, Kucinski, T, Naess, K, Jonsson, M, Pierri, CL, Palmieri, F, Wibom, R

المصدر: MOLECULAR GENETICS AND METABOLISM. 98(1-2):89-89

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:119233043

المؤلفون: Gioacchino Scarano, Giuseppe Fiermonte, S. Lane Rutledge, Ferdinando Palmieri, G. T. N. Besley, Marie-Cécile Nassogne, Eleonora Paradies, Giancarlo Parenti, M. Antonia Vilaseca, Luiz Aldamiz-Echevarria, Alessandra Tessa, Eugenia Martinez-Hernandez, Ciro Leonardo Pierri, Carlo Dionisi-Vici, Matthias R. Baumgartner, John H. Walter, Carmela Loguercio, Mariarosa A. B. Melone, Yin-Hsiu Chien, Jose M. Hernandez, Hélène Ogier de Baulny, Filippo M. Santorelli, Manuel Schiff, Federica Deodato

المساهمون: Tessa, A, Fiermonte, G, DIONISI VICI, C, Paradies, E, Baumgartner, Mr, Chien, Yh, Loguercio, Carmelina, DE BAULNY, Ho, Nassogne, Mc, Schiff, M, Deodato, F, Parenti, G, LANE RUTLEDGE, S, ANTONIA VILASECA, M, Melone, Mariarosa Anna Beatrice, Scarano, G, ALDAMIZ ECHEVARRÍA, L, Besley, G, Walter, J, MARTINEZ HERNANDEZ, E, Hernandez, Jm, Pierri, Cl, Palmieri, F, Santorelli, Fm, Dionisi Vici, C, Loguercio, C, de Baulny, Ho, Parenti, Giancarlo, Rutledge, Sl, Vilaseca, Ma, Melone, Ma, Aldamiz Echevarría, L, Martinez Hernandez, E, University of Zurich, Palmieri, Ferdinando

مصطلحات موضوعية: Adult, Male, Ornithine, 2716 Genetics (clinical), hyperammonemia, homocitrullinuria, In silico, Mutant, 610 Medicine & health, Biology, medicine.disease_cause, Mitochondrial Membrane Transport Proteins, ORC1, Protein Structure, Secondary, hyperornithinemia, Protein structure, 1311 Genetics, Genetics, medicine, Escherichia coli, Missense mutation, Humans, Child, Gene, Genetics (clinical), Mutation, Infant, Newborn, Infant, Hyperammonemia, Biological Transport, Syndrome, Middle Aged, medicine.disease, 10036 Medical Clinic, Urea cycle, Child, Preschool, Amino Acid Transport Systems, Basic, Citrulline, Female, Mutant Proteins, SLC25A15, HHH

وصف الملف: STAMPA; Tessa_Mutations_SLC25A15_Hum_Mut09_v.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3de70863f2be8e5c550166b8abf5c4d

المؤلفون: Aresta A; Department of Biosciences, Biotechnology and Environment, University of Bari 'Aldo Moro', Via Orabona 4, 70125 Bari, Italy., De Vietro N; Department of Biosciences, Biotechnology and Environment, University of Bari 'Aldo Moro', Via Orabona 4, 70125 Bari, Italy., Cotugno P; Department of Chemistry, University of Bari 'Aldo Moro', Via Orabona 4, 70125 Bari, Italy., Pierri CL; Department of Pharmacy, Pharmaceutical Sciences, University of Bari 'Aldo Moro', Via Orabona 4, 70125 Bari, Italy., Trisolini L; Department of Biosciences, Biotechnology and Environment, University of Bari 'Aldo Moro', Via Orabona 4, 70125 Bari, Italy., Zambonin C; Department of Biosciences, Biotechnology and Environment, University of Bari 'Aldo Moro', Via Orabona 4, 70125 Bari, Italy.

المصدر: Antioxidants (Basel, Switzerland) [Antioxidants (Basel)] 2024 Mar 01; Vol. 13 (3). Date of Electronic Publication: 2024 Mar 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101668981 Publication Model: Electronic Cited Medium: Print ISSN: 2076-3921 (Print) Linking ISSN: 20763921 NLM ISO Abbreviation: Antioxidants (Basel) Subsets: PubMed not MEDLINE

المؤلفون: Fusco C; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Nardella G; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Morlino S; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Micale L; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Tragni V; Laboratory of Biochemistry, Molecular, and Structural Biology, Department of Pharmacy-Pharmaceutical Sciences, University of Bari Aldo Moro, Bari, Italy., Agolini E; Laboratory of Medical Genetics, Fondazione IRCCS-Ospedale Pediatrico Bambino Gesù, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Fondazione IRCCS-Ospedale Pediatrico Bambino Gesù, Rome, Italy., Massuras S; Department of Medical Genetics, University of Torino, Torino, Italy., Giambra V; Institute for Stem Cell Biology, Regenerative Medicine and Innovative Therapies [ISBReMIT], Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Pierri CL; Laboratory of Biochemistry, Molecular, and Structural Biology, Department of Pharmacy-Pharmaceutical Sciences, University of Bari Aldo Moro, Bari, Italy., Castori M; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy. m.castori@operapadrepio.it.

المصدر: Journal of human genetics [J Hum Genet] 2024 Jan; Vol. 69 (1), pp. 53-58. Date of Electronic Publication: 2023 Sep 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Molecular Dynamics Simulation* , Marfan Syndrome*, Humans ; DNA-Binding Proteins/metabolism ; Proto-Oncogene Proteins/genetics ; Proto-Oncogene Proteins/metabolism ; Cell Cycle/genetics ; Transforming Growth Factor beta

المؤلفون: Cumbo C; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', Bari, Italy., Orsini P; Medical Genetics Unit, Department of Human Reproductive Medicine, ASL Bari, Bari, Italy., Tarantini F; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', Bari, Italy., Anelli L; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', Bari, Italy., Zagaria A; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', Bari, Italy., Tragni V; Laboratory of Biochemistry, Molecular and Computational Biology, Department of Pharmacy - Pharmaceutical Sciences, University of Bari, Bari, Italy., Coccaro N; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', Bari, Italy., Tota G; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', Bari, Italy., Parciante E; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', Bari, Italy., Conserva MR; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', Bari, Italy., Redavid I; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', Bari, Italy., Minervini CF; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', Bari, Italy., Minervini A; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', Bari, Italy., Attolico I; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', Bari, Italy., Gentile M; Medical Genetics Unit, Department of Human Reproductive Medicine, ASL Bari, Bari, Italy., Pierri CL; Laboratory of Biochemistry, Molecular and Computational Biology, Department of Pharmacy - Pharmaceutical Sciences, University of Bari, Bari, Italy., Specchia G; School of Medicine, University of Bari 'Aldo Moro', Bari, Italy., Musto P; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', Bari, Italy., Albano F; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', Bari, Italy.

المصدر: Hematological oncology [Hematol Oncol] 2023 Dec; Vol. 41 (5), pp. 942-946. Date of Electronic Publication: 2023 Aug 03.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8307268 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1099-1069 (Electronic) Linking ISSN: 02780232 NLM ISO Abbreviation: Hematol Oncol Subsets: MEDLINE

مواضيع طبية MeSH: Hematologic Neoplasms*/genetics , Leukemia, Myeloid, Acute*/genetics, Humans ; Child ; Mutation ; Genetic Predisposition to Disease ; Transmembrane Activator and CAML Interactor Protein/genetics

المؤلفون: Palmieri EM; Cancer Innovation Laboratory, NCI-Frederick, Frederick, MD, 21702, USA., Holewinski R; Protein Characterization Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research, Inc., Frederick, MD, 21702, USA., McGinity CL; Cancer Innovation Laboratory, NCI-Frederick, Frederick, MD, 21702, USA., Pierri CL; Laboratory of Biochemistry, Molecular and Structural Biology, Department of Pharmacy-Pharmaceutical Sciences, University of Bari, Via E. Orabona, 4, Bari, 70125, Italy., Maio N; Molecular Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, 9000 Rockville Pike, Bethesda, MD, 20892, USA., Weiss JM; Cancer Innovation Laboratory, NCI-Frederick, Frederick, MD, 21702, USA., Tragni V; Laboratory of Biochemistry, Molecular and Structural Biology, Department of Pharmacy-Pharmaceutical Sciences, University of Bari, Via E. Orabona, 4, Bari, 70125, Italy., Miranda KM; Department of Chemistry and Biochemistry, University of Arizona, Tucson, AZ, 85721, USA., Rouault TA; Molecular Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, 9000 Rockville Pike, Bethesda, MD, 20892, USA., Andresson T; Protein Characterization Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research, Inc., Frederick, MD, 21702, USA., Wink DA; Cancer Innovation Laboratory, NCI-Frederick, Frederick, MD, 21702, USA., McVicar DW; Cancer Innovation Laboratory, NCI-Frederick, Frederick, MD, 21702, USA. mcvicard@mail.nih.gov.

المصدر: Nature communications [Nat Commun] 2023 Aug 22; Vol. 14 (1), pp. 5114. Date of Electronic Publication: 2023 Aug 22.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Nitrogen Oxides* , Nitric Oxide*, Macrophages ; Pyruvate Dehydrogenase Complex ; Oxidoreductases ; Pyruvates