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Nicola Brunetti‐Pierri

telethon institute of genetics and medicine

59H指数
380论文数
2.5W被引数
收录论文 170
发表时间
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S-Nitrosylation of glycogen phosphorylase regulates nuclear glycogenolysis and is impaired in metabolic liver disorders一氧化氮化糖原磷酸化酶调控核糖原分解，并在代谢性肝脏疾病中受损
errScience Advances
IF12.5
err2026-10-02
err0
errOAAI
errLeandro R. Soria; Alfonso M. D’Alessio; Vincenzo Casertano; Elena Polishchuk; Andrea Pasquadibisceglie; Iolanda Boffa; Anna Diana; Rossella De Cegli; Lucia De Stefano; Edoardo Nusco; Paola Arena; Matteo Audano; Nico Mitro; Tsuyoshi Morita; Otto Baba; Antonietta Tarallo; Giancarlo Parenti; Sonam Gurung; Dany P. Perocheau; Davide Selvestrel; Giovanni Sorrentino; Fabienne Rajas; Giuseppe Ronzitti; Andrés F. Muro; Ayelet Erez; Karen Louise Thomsen; Pankaj K. Singh; Charles John Arends; Maria Rita Braghini; Samira Safarikia; Joseph C. Schindler; Julien Baruteau; Young Mok Lee; Anna Alisi; Marco Spada; Carlo Dionisi-Vici; Jonathan S. Stamler; Matthew S. Gentry; Nicola Brunetti-Pierri
err分享
err收藏
Myhre Syndrome: New Horizons in Clinical Care, Research and the Pursuit of TherapyMyhre 综合征：临床护理、研究与疗法探索的新视野
errAmerican Journal of Medical Genetics Part C-Seminars in Medical Genetics
IF4.4
err2026-09-01
err0
PREAI
errAngela E. Lin; Nicola Brunetti-Pierri; Valerie Cormier-Daire
err分享
err收藏
p62/SQSTM1-KEAP1 complex prevents clearance of ubiquitinated Z alpha-1 antitrypsin and aggravates liver proteotoxicityp62/SQSTM1-KEAP1复合物阻碍泛素化Z α-1抗胰蛋白酶的清除并加重肝脏蛋白质毒性
errJournal of Biological Chemistry
IF3.9
err2026-08-07
err0
errOAAI
errNunzia Pastore; Sergio Attanasio; Francesco Annunziata; Claudia D’Agostino; Veronica Maffia; Rita Colonna; Teresa Giuliano; Rosa Ferriero; Iolanda Boffa; Donna Palmer; Philip Ng; Rossella De Cegli; Massimo D’Agostino; Florian Rosenberger; Pavel Strnad; Joseph E. Chambers; Stefan J. Marciniak; Jeffrey Teckman; Pasquale Piccolo; Nicola Brunetti-Pierri
err分享
err收藏
B4GALT5 deficiency impairs glycosphingolipid biosynthesis: a new congenital disorder of glycosylation?B4GALT5缺乏会损害糖神经酰胺生物合成：一种新的糖基化先天性障碍？
errJournal of Lipid Research
IF4.1
err2026-07-09
err0
errOAAI
errLinda Montavoci; Michele Dei Cas; Anna Caretti; Omar Ben Mariem; Ivano Eberini; Laura Giaquinto; Alessandro De Falco; Maria Antonietta de Matteis; Nicola Brunetti-Pierri; Marco Trinchera
err分享
err收藏
Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4Myhre综合征先天性畸形谱——通过SMAD4基因获得功能变异体探讨转化生长因子-β信号通路改变的影响
erramerican journal of medical genetics part c: seminars in medical genetics
IF0
err2026-04-13
err0
errOAAI
errKawmadi Gunawardena; Alessandro De Falco; Deborah Osio; Eleanor Sherlock; Emma Kivuva; Erina Sasaki; Francis H. Sansbury; Nayana Lahiri; Patricia Foley; Sahar Mansour; Shane McKee; Tazeen Ashraf; Nicola Brunetti-Pierri; Usha Kini
err分享
err收藏
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current AgentsMyhre综合征的治疗：目标、误解和当前药物
erramerican journal of medical genetics part c: seminars in medical genetics
IF0
err2026-03-16
err0
errOAAI
errAlessandro De Falco; Alfonso Manuel D'Alessio; Nicola Brunetti-Pierri
err分享
err收藏
Navigating Drug Discovery for Myhre Syndrome: The Complexity of a Multisystemic Rare Disease导航Myhre综合征的药物发现：一种多系统性罕见病的复杂性
errAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics
IF0
err2025-11-03
err0
PREAI
errArmelle Pindon; Nicola Brunetti-Pierri; Kathy H. Young; Mary K. Young; Maria J. Macias; Xiulei Mo
err分享
err收藏
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms9q34.11微重复包含SET基因，与神经发育障碍和复发性畸形相关。
errAmerican Journal of Medical Genetics Part A
IF1.7
err2025-11-01
err0
PREAI
errDe Falco, Alessandro; Vincent, Marie; Vieville, Gaelle; Gauthier, Marjolaine; Dieterich, Klaus; Coutton, Charles; Loddo, Sara; Novelli, Antonio; Dallapiccola, Bruno; Digilio, Maria Cristina; Briuglia, Silvana; Bernardini, Laura; Fontana, Paolo; Madej-pilarczyk, Agnieszka; Mlynek, Marlena; De Falco, Luigia; Acquaviva, Fabio; De Brasi, Daniele; Faivre, Laurence; Dauver, Lucie; Alnuaimi, Nouf; Callier, Patrick; Trevisan, Valentina; Onesimo, Roberta; Leoni, Chiara; Zampino, Giuseppe; Neri, Giovanni; Delplancq, Geoffroy; Perrin, Laurence; White, Susan M.; Guerrini, Renzo; Mei, Davide; Sani, Ilaria; Pantaleo, Marilena; Peron, Angela; Brunetti-pierri, Nicola
err分享
err收藏
A clinical and genotype-phenotype analysis of MACF1 variantsMACF1变异的临床与基因型-表型分析
errThe American Journal of Human Genetics
IF0
err2025-09-08
err0
PREAI
errJordy Dekker; Rachel Schot; Kimberly A. Aldinger; David B. Everman; Camerun Washington; Julie R. Jones; Jennifer A. Sullivan; Rebecca C. Spillmann; Vandana Shashi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Anne-Laure Mosca-Boidron; Laurence Perrin; Stéphane Auvin; Maha S. Zaki; Joseph G. Gleeson; Naomi Meave; Cassidy Wallace; Sophie Nambot; Julian Delanne; Sarah M. Ruggiero; Ingo Helbig; Mark P. Fitzgerald; Richard J. Leventer; Dorothy K. Grange; Emanuela Argilli; Elliott H. Sherr; Supraja Prakash; Derek E. Neilson; Francesco Nicita; Antonella Sferra; Enrico S. Bertini; Chiara Aiello; Knut Brockmann; Alexander B. Kuranov; Silke Kaulfuss; Sulman Basit; Majed Alluqmani; Ahmad Almatrafi; Jan M. Friedman; Colleen Guimond; Faruq Mohammed; Pooja Sharma; Divya Goel; Thomas Wirth; Mathieu Anheim; Paulina Bahena; Asuman Koparir; Konstantinos Kolokotronis; Barbara Vona; Thomas Haaf; Erdmute Kunstmann; Reza Maroofian; Henrike L. Sczakiel; Felix Boschann; Mala Misra-Isrie; Raymond J. Louie; Elliot S. Stolerman; Pedro A. Sanchez-Lara; Sandra Mergler; Renske Oegema; Yuri A. Zarate; Ariana Kariminejad; Homa Tajsharghi; Shimriet Zeidler; Anneke J.A. Kievit; Arjan Bouman; Gerarda Cappuccio; Nicola Brunetti-Pierri; Kyra E. Stuurman; Dayna Morel Swols; Mustafa Tekin; Jariya Upadia; Donna M. Martin; Daniel Craven; Susan M. Hiatt; Laura A. van de Pol; Felice D'Arco; Henri Margot; Martina Wilke; Soheil Yousefi; Tahsin Stefan Barakat; Monique M. van Veghel-Plandsoen; Eleonora Aronica; Jasper Anink; Stephen L. Rogers; Kevin C. Slep; Dan Doherty; William B. Dobyns; Grazia M.S. Mancini
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err收藏
Computational identification of small molecules for increased gene expression by synthetic circuits in mammalian cells利用合成回路在哺乳动物细胞中增强基因表达的小分子计算鉴定
errNature Communications
IF15.7
err2025-08-04
err0
errOAAI
errM. Pisani; F. Calandra; A. Rinaldi; F. Cella; F. Tedeschi; I. Boffa; D. Vozzi; N. Brunetti-Pierri; A. Carissimo; F. Napolitano; V. Siciliano
err分享
err收藏
A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly进一步支持PDCD6IP为小头畸形神经发育障碍负责基因的病例研究
errClinical Genetics
IF2.3
err2025-07-16
err0
errOAAI
errAlfonso Manuel D'Alessio; Annalaura Torella; Manuela Morleo; Vincenzo Nigro; TUDP Study Group; Nicola Brunetti-Pierri
err分享
err收藏
Normal urinary oxalate excretion in 4-hydroxy-2-oxo-glutarate aldolase 1 (HOGA1) deficient mice with AGT expression in peroxisomes and not in mitochondria4-羟基-2-oxo-戊二酸醛缩酶1（HOGA1）缺陷小鼠中，正常尿草酸盐排泄与过氧化物酶体中存在AGT表达且线粒体中无表达。
errbiochimica et biophysica acta molecular basis of disease
IF0
err2025-06-25
err0
PREAI
errIolanda Boffa; Rosa Ferriero; Mariarosaria Cancelliere; Edoardo Nusco; Leonardo Gatticchi; Donna Palmer; Philip Ng; Pasquale Piccolo; Barbara Cellini; Kyle Wood; John Knight; Nicola Brunetti-Pierri
err分享
err收藏
Hepatocyte delivery of miR-34b/c reduces hepatic stellate cell activation and improves liver fibrosis肝细胞递送miR-34b/c可降低肝星状细胞活化并改善肝纤维化
errMolecular Therapy Nucleic Acids
IF6.1
err2025-06-09
err0
errOAAI
errPasquale Piccolo; Rosa Ferriero; Claudia Perna; Edoardo Nusco; Marcello Monti; Rossella De Cegli; Anna Barbato; Nicolina Cristina Sorrentino; Maria Teresa Viscomi; Marica Cariello; Antonio Moschetta; Severo Campione; Nicola Brunetti-Pierri
err分享
err收藏
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)DEGS1基因的缺失检测应作为诊断少突胶质细胞减少性脑白质营养不良（HLD18）流程的一部分。
errHUMAN MUTATION
IF3.7
err2025-05-07
err0
errOAAI
errZanobio, Mariateresa; Nardecchia, Francesca; Cappuccio, Gerarda; Onore, Maria Elena; Di Letto, Pasquale; Rahman, Sarah Iffat; Terrone, Gaetano; Ugga, Lorenzo; De Giorgi, Agnese; Cas, Michele Dei; Trinchera, Marco; Leuzzi, Vincenzo; Piluso, Giulio; Nigro, Vincenzo; Brunetti-Pierri, Nicola; Torella, Annalaura
err分享
err收藏
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2025-01-24
err0
errOAAI
errFecarotta, Simona; Vaccaro, Lorenzo; Verde, Alessandra; Alagia, Marianna; Rossi, Alessandro; Colantuono, Chiara; Cacciapuoti, Maria Teresa; Annunziata, Patrizia; Riccardo, Sara; Grimaldi, Antonio; Fusco, Tonya; De Santis, Rosa; Barretta, Fernando; Albano, Lucia; Crisci, Daniela; Vallone, Fabiana; Tarallo, Antonietta; Cesana, Marcella; Brunetti-Pierri, Nicola; Frisso, Giulia; Ruoppolo, Margherita; Cacchiarelli, Davide; Parenti, Giancarlo
err分享
err收藏
A mini-review on the international gyrate atrophy symposium 2023: More than meets the eye. Focus on outstanding research questions2023国际回旋萎缩研讨会的迷你回顾: 不止是满足眼睛。专注于突出的研究问题
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-12-01
err0
PREAI
errBrands, Marion; Balfoort, Berith; Acharya, Karabi; Bergen, Arthur; Brunetti-Pierri, Nicola; Buijs, Mark; Cellini, Barbara; Schultink, Patrick; Singh, Mandeep; Schulze, Andreas; Timmer, Corrie; Valle, David; Wanders, Ronald; Wartiovaara, Kirmo; van Karnebeek, Clara
err分享
err收藏
Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapyVI型黏多糖贮积症患者经肝脏靶向基因治疗后多年度酶表达
errMED
IF11.8
err2024-11-01
err0
PREAI
errRossi, Alessandro; Romano, Roberta; Fecarotta, Simona; Dell'Anno, Margherita; Pecorella, Valentina; Passeggio, Roberta; Zancan, Stefano; Parenti, Giancarlo; Santamaria, Francesca; Borgia, Francesco; Deodato, Federica; Funghini, Silvia; Rupar, Charles A.; Prasad, Chitra; O'Callaghan, Mar; Mitchell, John J.; Valsecchi, Maria Grazia; la Marca, Giancarlo; Galimberti, Stefania; Auricchio, Alberto; Brunetti-Pierri, Nicola
err分享
err收藏
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline导致Myhre综合征的SMAD4突变在男性生殖系中处于阳性选择状态
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-09-01
err3
errOAAI
errWood, Katherine A.; Tong, R. Spencer; Motta, Marialetizia; Cordeddu, Viviana; Scimone, Eleanor R.; Bush, Stephen J.; Maxwell, Dale W.; Giannoulatou, Eleni; Caputo, Viviana; Traversa, Alice; Mancini, Cecilia; Ferrero, Giovanni B.; Benedicenti, Francesco; Grammatico, Paola; Melis, Daniela; Steindl, Katharina; Brunetti-Pierri, Nicola; Trevisson, Eva; Wilkie, Andrew O. M.; Lin, Angela E.; Cormier-Daire, Valerie; Twigg, Stephen R. F.; Tartaglia, Marco; Goriely, Anne
err分享
err收藏
Biomarkers for gene therapy clinical trials of lysosomal storage disorders
errMOLECULAR THERAPY
IF12
err2024-09-01
err1
PREAI
errRossi, Alessandro; Malvagia, Sabrina; la Marca, Giancarlo; Parenti, Giancarlo; Brunetti-Pierri, Nicola
err分享
err收藏
Precision medicine in action for Pompe disease
errMOLECULAR THERAPY NUCLEIC ACIDS
IF6.1
err2024-09-01
err1
errOAAI
errTarallo, Antonietta; Parenti, Giancarlo; Brunetti-Pierri, Nicola
err分享
err收藏

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