Zobrazeno 1 - 10
of 227
pro vyhledávání: '"ibmpfd"'
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
p97/VCP, a hexametric member of the AAA-ATPase superfamily, has been associated with a wide range of cellular protein pathways, such as proteasomal degradation, the unfolding of polyubiquitinated proteins, and autophagosome maturation. Autosomal domi
Externí odkaz:
https://doaj.org/article/e10dd17d0c124bd1a26e0524d5b1de36
Autor:
Yalan Wan, Qi Wang, Yiming Zheng, Meng Yu, Zhiying Xie, Chen Ling, Lingchao Meng, Jiaxi Yu, Yilei Zheng, Yikang Wang, Wenhao Zhang, Chang Liu, Yawen Zhao, Yun Yuan, Jianwen Deng, Qiang Gang, Zhaoxia Wang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 7, Pp n/a-n/a (2023)
Abstract Objective The objective of this research was to study the clinical features, genetic characteristics, muscle imaging, and muscle pathological changes of a cohort of Chinese patients with mutations in the valosin‐containing protein (VCP) ge
Externí odkaz:
https://doaj.org/article/0ad96cc8bbf54455b1fcdd9b5c82fd5b
Autor:
Alyaa Shmara, Mari Perez-Rosendahl, Kady Murphy, Ashley Kwon, Charles Smith, Virginia Kimonis
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Valosin containing protein (VCP) is an important protein with many vital functions mostly related to the ubiquitin–proteasome system that provides protein quality control. VCP-associated inclusion body myopathy with Paget diseas
Externí odkaz:
https://doaj.org/article/d9fdf9b7670f4c1090146471cf151101
Akademický článek
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Autor:
Jana Riehl, Ramesh Rijal, Leonie Nitz, Christoph S. Clemen, Andreas Hofmann, Ludwig Eichinger
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
The abundant homohexameric AAA + ATPase p97 (also known as valosin-containing protein, VCP) is highly conserved from Dictyostelium discoideum to human and a pivotal factor of cellular protein homeostasis as it catalyzes the unfolding of proteins. Owi
Externí odkaz:
https://doaj.org/article/001bb8bd10004d5ca23ec3f7bb2cbecf
Autor:
Anne-Katrin Guettsches, Nancy Meyer, René P. Zahedi, Teresinha Evangelista, Thomas Muentefering, Tobias Ruck, Emmanuelle Lacene, Christoph Heute, Humberto Gonczarowska-Jorge, Benedikt Schoser, Sabine Krause, Andreas Hentschel, Matthias Vorgerd, Andreas Roos
Publikováno v:
Biomedicines, Vol 10, Iss 10, p 2443 (2022)
Dominant VCP–mutations cause a variety of neurological manifestations including inclusion body myopathy with early–onset Paget disease and frontotemporal dementia 1 (IBMPFD). VCP encodes a ubiquitously expressed multifunctional protein that is a
Externí odkaz:
https://doaj.org/article/01e33abb37a14f4589274c424ffffc0e
Autor:
Jordan M. Wall, Ankita Basu, Elizabeth R. M. Zunica, Olga S. Dubuisson, Kathryn Pergola, Joshua P. Broussard, John P. Kirwan, Christopher L. Axelrod, Alyssa E. Johnson
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 7 (2021)
Mutations in Valosin Containing Protein (VCP) are associated with several degenerative diseases, including multisystem proteinopathy (MSP-1) and amyotrophic lateral sclerosis. However, patients with VCP mutations vary widely in their pathology and cl
Externí odkaz:
https://doaj.org/article/01d91094d5e945e9ba34b118ae43601a
Autor:
Masaki Ikeda, Takeo Kuwabara, Eriko Takai, Hiroo Kasahara, Minori Furuta, Akiko Sekine, Kouki Makioka, Tsuneo Yamazaki, Yukio Fujita, Kazuaki Nagashima, Tetsuya Higuchi, Yoshito Tsushima, Yoshio Ikeda
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Inclusion body myopathy (IBM) with Paget's disease of bone (PDB) and frontotemporal dementia (IBMPFD) presents with multiple symptoms and an unknown etiology. Valosin-containing protein (VCP) has been identified as the main causative gene of IBMPFD.
Externí odkaz:
https://doaj.org/article/cd69ff4c06494341b2ee5cedfcbfdab0
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2017 Aug . 114(33), E6822-E6829.
Externí odkaz:
https://www.jstor.org/stable/26487074
Autor:
Columbres, Rod Carlo Agram, Chin, Yue, Pratti, Sanjana, Quinn, Colin, Gonzalez-Cuyar, Luis F, Weiss, Michael, Quintero-Rivera, Fabiola, Kimonis, Virginia
Publikováno v:
Genes, vol 14, iss 3
Valosin-containing protein (VCP) gene mutations have been associated with a rare autosomal dominant, adult-onset progressive disease known as multisystem proteinopathy 1 (MSP1), or inclusion body myopathy (IBM), Paget's disease of bone (PDB), frontot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::312ab165497fb3b89fa141d1923e59b0
https://escholarship.org/uc/item/4dj0h013
https://escholarship.org/uc/item/4dj0h013
