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

Stbd1 stimulates AMPK signaling and alleviates insulin resistance in an in vitro hepatocyte model.

Stbd1 可刺激 AMPK 信号传导,并在体外肝细胞模型中缓解胰岛素抵抗

Theodoulou Andria, Speckmann Thilo, Potamiti Louiza, Baba Otto, Morita Tsuyoshi, Drousiotou Anthi, Panayiotidis Mihalis I, Schürmann Annette, Petrou Petros P

YME1L1 Dysfunction Associated With 3-Methylglutaconic Aciduria.

YME1L1 功能障碍与 3-甲基戊二酸尿症相关

Demetriadou Anthi, Grafakou Olga, Georgiou Theodoros, Burska Daniela, Malekkou Anna, Krizova Jana, Paramera Efstathia, Mavrikiou Gavriella, Dionysiou Maria, Theodosiou Athina, Sismani Carolina, Anastasiadou Violetta, Ioannou Ioannis, Papakonstantinou Evangelos, Hansikova Hana, Drousiotou Anthi, Petrou Petros P

A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report

一种新型的大片段DPYD基因内缺失导致二氢嘧啶脱氢酶缺乏症:病例报告

Malekkou, Anna; Tomazou, Marios; Mavrikiou, Gavriella; Dionysiou, Maria; Georgiou, Theodoros; Papaevripidou, Ioannis; Alexandrou, Angelos; Sismani, Carolina; Drousiotou, Anthi; Grafakou, Olga; Petrou, Petros P

A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics

一组患有CblC缺陷的塞浦路斯患者病例:临床、生化和分子特征

Georgiou, Theodoros; Grafakou, Olga; Malekkou, Anna; Athanasiou, Emilia; Ioannou, Ioannis; Choleva, Vivi; Dionysiou, Maria; Mavrikiou, Gabriella; Demetriadou, Anthi; Anastasiadou, Violetta; Drousiotou, Anthi; Petrou, Petros P

Inherited metabolic disorders in Cyprus

塞浦路斯的遗传性代谢紊乱

Georgiou, Theodoros; Petrou, Petros P; Malekkou, Anna; Ioannou, Ioannis; Gavatha, Marina; Skordis, Nicos; Nicolaidou, Paola; Savvidou, Irini; Athanasiou, Emilia; Ourani, Sofia; Papamichael, Elena; Vogazianos, Marios; Dionysiou, Maria; Mavrikiou, Gabriella; Grafakou, Olga; Tanteles, George A; Anastasiadou, Violetta; Drousiotou, Anthi

GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing

通过外显子组测序偶然发现,GAA 变异体与酶活性降低相关,但缺乏庞贝氏症相关症状。

Malekkou, Anna; Theodosiou, Athina; Alexandrou, Angelos; Papaevripidou, Ioannis; Sismani, Carolina; Jacobs, Edwin H; Ruijter, George J G; Anastasiadou, Violetta; Ourani, Sofia; Athanasiou, Emilia; Drousiotou, Anthi; Grafakou, Olga; Petrou, Petros P

Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter

新发现的铜代谢紊乱是由高亲和力铜转运蛋白 CTR1 的变异引起的

Spyros Batzios, Galit Tal, Andrew T DiStasio, Yanyan Peng, Christiana Charalambous, Paola Nicolaides, Erik-Jan Kamsteeg, Stanley H Korman, Hanna Mandel, Peter J Steinbach, Ling Yi, Summer R Fair, Mark E Hester, Anthi Drousiotou, Stephen G Kaler1

Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content

酸性神经酰胺酶耗竭会损害神经元存活,并诱导神经突形态缺陷,这与基因转录和鞘脂含量的改变有关。

Kyriakou, Kalia; Lederer, Carsten W; Kleanthous, Marina; Drousiotou, Anthi; Malekkou, Anna

Stbd1 promotes glycogen clustering during endoplasmic reticulum stress and supports survival of mouse myoblasts

Stbd1促进内质网应激期间糖原聚集,并支持小鼠成肌细胞的存活。

Andria A Lytridou,Anthi Demetriadou,Melina Christou,Louiza Potamiti,Nikolas P Mastroyiannopoulos,Kyriacos Kyriacou,Leonidas A Phylactou,Anthi Drousiotou,Petros P Petrou

NON-CREDIBLE ADOLESCENT SURVEY RESPONSES AND LATER-IN-LIFE ALZHEIMER’S DISEASE AND RELATED DISORDERS

不可信的青少年调查回复与成年后阿尔茨海默病及相关疾病的关系

Verrelli, Brian C; McDonald, John H; Argyropoulos, George; Destro-Bisol, Giovanni; Froment, Alain; Drousiotou, Anthi; Lefranc, Gerard; Helal, Ahmed N; Loiselet, Jacques; Tishkoff, Sarah A; Strombotne, K; Horner, E; Walters, E; Lapham, S J