Zobrazeno 1 - 10
of 103
pro vyhledávání: '"RBCK1"'
Autor:
MohammadHossein MozafaryBazargany, Shiva Esmaeili, Mahshid Hesami, Golnaz Houshmand, Mohamad Mahdavi, Majid Maleki, Samira Kalayinia
Publikováno v:
ESC Heart Failure, Vol 11, Iss 3, Pp 1472-1482 (2024)
Abstract Aims Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease where polyglucosan accumulation leads to cardiomyopathy and skeletal muscle myopathy. Variants of RBCK1 is related with PGBM1. We present a newly discovered path
Externí odkaz:
https://doaj.org/article/91b7672077a64609b570b7068c8dd7c0
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
Abstract Objective To analyze the clinical and genetic characteristics of a patient with Polyglucosan body myopathy 1 (PGBM1) caused by a novel compound heterozygous variant in the RBCK1 gene. Methods The clinical data of the patient were collected,
Externí odkaz:
https://doaj.org/article/c77d2bb205ae42dcba756617d4c08e68
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101031- (2024)
Polyglucosan body myopathy-1 (PGBM1) is an extremely rare glycogen storage diseases that leads to muscle weakness and cardiomyopathy due to the accumulation of polyglucosan bodies. The clinical presentation appears to be partially dependent on the ge
Externí odkaz:
https://doaj.org/article/28669eb42d214a0c8f7a9c51204b0e26
Akademický článek
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Autor:
Jing Guo, Donglin Sun, Junwei Zhang, Jie Guo, Zhenpeng Wu, Yongzhen Chen, Yujie Xu, Desheng Zhou, Yachao Cui, Qi Mo, Yingchang Li, Ting Zhao, Qiang You
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 21, Iss , Pp 5212-5227 (2023)
E3 ubiquitin ligases (E3s) play a pivotal role in regulating the specificity of protein ubiquitination, and their significant functions as regulators of immune responses against tumors are attracting considerable interest. RBCK1—an RBR E3 ligase—
Externí odkaz:
https://doaj.org/article/648370b4d0fa43eeb4252a71584033b7
Autor:
Zhongbo Li, Peng Su, Yinlu Ding, Honglei Gao, Huijie Yang, Xin Li, Xiao Yang, Yan Xia, Chenmiao Zhang, Mingxi Fu, Dehai Wang, Ye Zhang, Shu Zhuo, Jian Zhu, Ting Zhuang
Publikováno v:
Cell Communication and Signaling, Vol 20, Iss 1, Pp 1-18 (2022)
Abstract Background Triple negative breast cancer (TNBC) is one of the most lethal breast cancer subtypes. Due to a lack of effective therapeutic targets, chemotherapy is still the main medical treatment for TNBC patients. Thus, it is important and n
Externí odkaz:
https://doaj.org/article/21ace992caea4ac187fbf04fedb51950
Publikováno v:
Frontiers in Molecular Biosciences, Vol 9 (2023)
The linear ubiquitin chain assembly complex synthesises linear Ub chains which constitute a binding and activation platform for components of the TNF signalling pathway. One of the components of LUBAC is the ubiquitin ligase HOIL-1 which has been sho
Externí odkaz:
https://doaj.org/article/bb744c39e5fc4992996492ee79991f03
Akademický článek
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Autor:
Lin Chen, Nan Wang, Wenbin Hu, Xuen Yu, Renming Yang, Yongzhu Han, Yan Yan, Na Nian, Congbo Sha
Publikováno v:
BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-6 (2021)
Abstract Background Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease that can cause skeletal muscle myopathy and cardiomyopathy with or without immunodeficiency due to a pathogenic mutation in the RBCK1 gene. PGBM1 has been
Externí odkaz:
https://doaj.org/article/2584d1ab09774b60a5a8c7f62c3b8eb5
Akademický článek
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