Zobrazeno 1 - 10
of 618
pro vyhledávání: '"cblC"'
Autor:
Theodoros Georgiou, Olga Grafakou, Anna Malekkou, Emilia Athanasiou, Ioannis Ioannou, Vivi Choleva, Maria Dionysiou, Gabriella Mavrikiou, Anthi Demetriadou, Violetta Anastasiadou, Anthi Drousiotou, Petros P. Petrou
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101158- (2024)
Methylmalonic aciduria and homocystinuria, CblC type, is an inborn error of intracellular vitamin B12 (cobalamin) metabolism caused, in the majority of cases, by mutations in the MMACHC gene. Five Cypriot patients (four males and one female) were dia
Externí odkaz:
https://doaj.org/article/7f951476c3c046ca93de03b375035e83
Autor:
Linlin Lv, Shujing Li, Jie Kang, Yulin Li, Nannan Zhao, Dongman Ye, Fengying Qin, Jing Sun, Tao Yu, Huijian Wu
Publikováno v:
Cancer Cell International, Vol 24, Iss 1, Pp 1-17 (2024)
Abstract Triple negative breast cancer (TNBC) is a type of cancer that lacks receptor expression and has complex molecular mechanisms. Recent evidence shows that the ubiquitin-protease system is closely related to TNBC. In this study, we obtain a key
Externí odkaz:
https://doaj.org/article/7eb2cb06ad41450f881815eaf8fa11fb
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Translational Oncology, Vol 45, Iss , Pp 101992- (2024)
CBLC (CBL proto-oncogene C) is an E3 ubiquitin protein ligase that plays a key role in cancers. However, the function and mechanism of CBLC in colorectal cancer (CRC) has not been fully elucidated. The aim of this study was to investigate the functio
Externí odkaz:
https://doaj.org/article/0c769ecdbbe54cdb8db9809a2b3e4f7e
Autor:
Loredana Arhip, Noemi Brox-Torrecilla, Inmaculada Romero, Marta Motilla, Clara Serrano-Moreno, María Miguélez, Cristina Cuerda
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Introduction Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. The age of onset ranges from prenatal to adult. The disease is characterised by an e
Externí odkaz:
https://doaj.org/article/5335f7e7e45740dfb0a445591c3b3285
Publikováno v:
Metabolites, Vol 14, Iss 8, p 428 (2024)
Methylmalonic acidemia (MMA), propionic acidemia (PA), and cobalamin C deficiency (cblC) share a defect in propionic acid metabolism. In addition, cblC is also involved in the process of homocysteine remethylation. These three diseases produce variou
Externí odkaz:
https://doaj.org/article/cc95d15cced542a0b78494b99afa20c7
Autor:
Si Ding, Shiying Ling, Lili Liang, Wenjuan Qiu, Huiwen Zhang, Ting Chen, Xia Zhan, Feng Xu, Xuefan Gu, Lianshu Han
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background cblC defect is the most common type of methylmalonic acidemia in China. Patients with late-onset form (>1 year) are often misdiagnosed due to heterogeneous symptoms. This study aimed to describe clinical characteristics and evalua
Externí odkaz:
https://doaj.org/article/75b7f9c5de2e49f1b905e55958015cca
Autor:
Miao Sun, Yingjie Dai
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundLate-onset cobalamin C (cblC) deficiency is associated with a wide range of neurological and psychiatric symptoms, hematological manifestations, anorexia, renal failure, ocular abnormalities, dermatitis, and pancreatitis. However, the neuro
Externí odkaz:
https://doaj.org/article/131990c3d624403f996d99483a9faed3
Publikováno v:
Frontiers in Oncology, Vol 13 (2023)
How the function of the JMJD2D epigenetic regulator is regulated or whether it plays a role in prostate cancer has remained elusive. We found that JMJD2D was overexpressed in prostate tumors, stimulated prostate cancer cell growth and became methylat
Externí odkaz:
https://doaj.org/article/98703971f8d74952b58ab49316928a02