日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Combined ketone body and glutamine supplementation restores aerobic energy production in AGC1-deficient neuronal progenitors.

酮体和谷氨酰胺联合补充可恢复 AGC1 缺乏的神经元祖细胞的有氧能量产生。

Barile Simona Nicole, Magnifico Maria Chiara, Poeta Eleonora, Distelmaier Felix, Viggiano Luigi, Balboni Nicola, Protti Michele, Petralla Sabrina, Pignataro Antonella, Volpe Giacomo, De Luise Monica, Bonora Massimo, Antonicelli Marica, Babini Giorgia, Massenzio Francesca, Porcelli Vito, Lama Eleonora, Arrigoni Roberto, Pisano Isabella, Addabbo Veronica, Campana Anna, Begnozzi Francesca, Anderson Stewart A, Fiermonte Giuseppe, Giorgi Federico Manuel, Pinton Paolo, Palmieri Ferdinando, Gasparre Giuseppe, Mercolini Laura, Palmieri Luigi, Wallace Douglas C, Hentschel Julia, Monti Barbara, Lasorsa Francesco Massimo

Combined in silico/in vitro approaches for identifying modulators of the activity of the p.Tyr110Cys Carnitine O-Acetyltransferase (CRAT) variant associated to an early onset case of Leigh syndrome.

结合计算机模拟/体外方法,鉴定与早发性莱氏综合征相关的 p.Tyr110Cys 肉碱 O-乙酰转移酶 (CRAT) 变体的活性调节剂

Cafferati Beltrame Lucas, Sgobba Maria Noemi, Laera Luna, Scaglione Valeria, Todisco Sabino, Barile Serena, Francavilla Anna Lucia, De Luca Danila Imperia, Montaruli Michele, Porcelli Vito, Guerra Lorenzo, De Grassi Anna, Volpicella Mariateresa, Pierri Ciro Leonardo

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.

生酮饮食治疗线粒体苹果酸天冬氨酸穿梭和丙酮酸载体缺陷

Bölsterli Bigna K, Boltshauser Eugen, Palmieri Luigi, Spenger Johannes, Brunner-Krainz Michaela, Distelmaier Felix, Freisinger Peter, Geis Tobias, Gropman Andrea L, Häberle Johannes, Hentschel Julia, Jeandidier Bruno, Karall Daniela, Keren Boris, Klabunde-Cherwon Annick, Konstantopoulou Vassiliki, Kottke Raimund, Lasorsa Francesco M, Makowski Christine, Mignot Cyril, O'Gorman Tuura Ruth, Porcelli Vito, Santer René, Sen Kuntal, Steinbrücker Katja, Syrbe Steffen, Wagner Matias, Ziegler Andreas, Zöggeler Thomas, Mayr Johannes A, Prokisch Holger, Wortmann Saskia B

An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases

神经肌肉疾病中线粒体蛋白缺陷概述

Marra, Federica; Lunetti, Paola; Curcio, Rosita; Lasorsa, Francesco Massimo; Capobianco, Loredana; Porcelli, Vito; Dolce, Vincenza; Fiermonte, Giuseppe; Scarcia, Pasquale

CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

CUGC 用于高鸟氨酸血症-高氨血症-同型瓜氨酸尿症 (HHH) 综合征

Martinelli, Diego; Fiermonte, Giuseppe; Häberle, Johannes; Boenzi, Sara; Goffredo, Bianca Maria; Travaglini, Lorena; Agolini, Emanuele; Porcelli, Vito; Dionisi-Vici, Carlo

SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency

SLC25A10双等位基因突变与难治性癫痫性脑病伴复合物I缺陷相关

Punzi, Giuseppe; Porcelli, Vito; Ruggiu, Matteo; Hossain, Md F; Menga, Alessio; Scarcia, Pasquale; Castegna, Alessandra; Gorgoglione, Ruggiero; Pierri, Ciro L; Laera, Luna; Lasorsa, Francesco M; Paradies, Eleonora; Pisano, Isabella; Marobbio, Carlo M T; Lamantea, Eleonora; Ghezzi, Daniele; Tiranti, Valeria; Giannattasio, Sergio; Donati, Maria A; Guerrini, Renzo; Palmieri, Luigi; Palmieri, Ferdinando; De Grassi, Anna