换一批
换一批Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.
作者：
Elisa Maria,Turco [1]
;
Angela Maria Giada,Giovenale [1]
;
Laura,Sireno [2]
;
Martina,Mazzoni [1]
;
Alessandra,Cammareri [3]
;
Caterina,Marchioretti [1]
;
Laura,Goracci [1]
;
Alessandra,Di Veroli [3]
;
Elena,Marchesan [4]
;
Daniel,D'Andrea [5]
;
Antonella,Falconieri [5]
;
Barbara,Torres [6]
;
Laura,Bernardini [7]
;
Maria Chiara,Magnifico [4]
;
Alessio,Paone [8]
;
Serena,Rinaldo [8]
;
Matteo,Della Monica [9]
;
Stefano,D'Arrigo [9]
;
Diana,Postorivo [9]
;
Anna Maria,Nardone [10]
;
Giuseppe,Zampino [11]
;
Roberta,Onesimo [12]
;
Chiara,Leoni [12]
;
Federico,Caicci [13]
;
Domenico,Raimondo [14]
;
Elena,Binda [13]
;
Laura,Trobiani [14]
;
Antonella,De Jaco [14]
;
Ada Maria,Tata [15]
;
Daniela,Ferrari [16]
;
Francesca,Cutruzzolà [17]
;
Gianluigi,Mazzoccoli [18]
;
Elena,Ziviani [18]
;
Maria,Pennuto [19]
;
Angelo Luigi,Vescovi [18]
;
Jessica,Rosati [19]
作者单位：
Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013, San Giovanni Rotondo, FG, Italy.
[1]
Department of Biotechnology and Biosciences, University of Milano-Bicocca, Piazza della Scienza 2, 20126, Milano, Italy.
[2]
Veneto Institute of Molecular Medicine (VIMM), via Orus 2, 35129, Padova, Italy.
[3]
Department of Biomedical Sciences, University of Padova, via Ugo Bassi 58/B, 35131, Padova, Italy.
[4]
Department of Chemistry, Biology, and Biotechnology, University of Perugia, Via Elce di Sotto 8, 06123, Perugia, Italy.
[5]
Department of Biology, University of Padova, Via U. Bassi 58/b, 35121, Padova, Italy.
[6]
Interdisciplinary Biomedical Research Centre, School of Science and Technology, Nottingham Trent University, Clifton, NG11 8NS, UK.
[7]
Medical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Italy.
[8]
Department of Biochemical Sciences, "A. Rossi Fanelli", University of Rome "La Sapienza", P.le Aldo Moro 5, 00185, Rome, Italy.
[9]
UOC Genetica Medica e di Laboratorio, AORN "A. Cardarelli", Via Antonio Cardarelli 9, 80131, Napoli, Italy.
[10]
Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Giovanni Celoria, 11, 20133, Milano, Italy.
[11]
Medical Genetics Laboratory, "Policlinico Tor Vergata" Hospital, Viale Oxford 81, 00133, Rome, Italy.
[12]
Rare Diseases and Birth Defects Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli 8, 00168, Rome, Italy.
[13]
Dipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del S. Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy.
[14]
Department of Biology, DiBio Imaging Facility, University of Padova, Via U. Bassi 58/b, 35121, Padova, Italy.
[15]
Department of Molecular Medicine, University of Rome "La Sapienza", Viale Regina Elena 324, 00161, Rome, Italy.
[16]
Unit of Cancer and Stem Cells, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013, San Giovanni Rotondo, FG, Italy.
[17]
Department of Biology and Biotechnology "Charles Darwin", University of Rome "La Sapienza", P.le Aldo Moro 5, 00185, Rome, Italy.
[18]
Research Center of Neurobiology "Daniel Bovet", University of Rome "La Sapienza", P.le Aldo Moro 5, 00185, Rome, Italy.
[19]
Department of Medical Sciences, Division of Internal Medicine and Chronobiology Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Italy.
[20]
Veneto Institute of Molecular Medicine (VIMM), via Orus 2, 35129, Padova, Italy. maria.pennuto@unipd.it.
[21]
Department of Biomedical Sciences, University of Padova, via Ugo Bassi 58/B, 35131, Padova, Italy. maria.pennuto@unipd.it.
[22]
Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013, San Giovanni Rotondo, FG, Italy. angelo.vescovi@unimib.it.
[23]
Department of Biotechnology and Biosciences, University of Milano-Bicocca, Piazza della Scienza 2, 20126, Milano, Italy. angelo.vescovi@unimib.it.
[24]
Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013, San Giovanni Rotondo, FG, Italy. j.rosati@css-mendel.it.
[25]
主题词
人类(Humans);Smith-Magenis综合征(Smith-Magenis Syndrome);单倍剂量不足(Haploinsufficiency);脂类代谢(Lipid Metabolism);转录因子(Transcription Factors);反式激活因子类(Trans-Activators);表型(Phenotype);自噬(Autophagy);维甲酸(Tretinoin);脂类(Lipids)
DOI
10.1038/s41419-022-05410-7
PMID
36411275
发布时间
2023-01-21
- 浏览1
Cell death & disease
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