Zobrazeno 1 - 10
of 253
pro vyhledávání: '"SPAST"'
Autor:
Jie Wang, Yihan Wu, Hong Dong, Yunpeng Ji, Lichun Zhang, Yaxian Liu, Yueshi Liu, Xin Gao, Yueqi Jia, Xiaohua Wang
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)
Abstract Objective Haploinsufficiency is widely accepted as the pathogenic mechanism of hereditary spastic paraplegias type 4 (SPG4). However, there are some cases that cannot be explained by reduced function of the spastin protein encoded by SPAST.
Externí odkaz:
https://doaj.org/article/9e1740a5dff44831af5edc7ef8df83e4
Publikováno v:
Neural Regeneration Research, Vol 20, Iss 3, Pp 725-739 (2025)
Developing effective and long-term treatment strategies for rare and complex neurodegenerative diseases is challenging. One of the major roadblocks is the extensive heterogeneity among patients. This hinders understanding the underlying disease-causi
Externí odkaz:
https://doaj.org/article/675851f1fdd04bff992f39e9eb7d15d6
Autor:
Rosangela Ferese, Simona Scala, Antonio Suppa, Rosa Campopiano, Francesco Asci, Alessandro Zampogna, Maria Antonietta Chiaravalloti, Annamaria Griguoli, Marianna Storto, Alba Di Pardo, Emiliano Giardina, Stefania Zampatti, Francesco Fornai, Giuseppe Novelli, Mirco Fanelli, Chiara Zecca, Giancarlo Logroscino, Diego Centonze, Stefano Gambardella
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionPure hereditary spastic paraplegia (SPG) type 4 (SPG4) is caused by mutations of SPAST gene. This study aimed to analyze SPAST variants in SPG4 patients to highlight the occurrence of splicing mutations and combine functional studies to a
Externí odkaz:
https://doaj.org/article/cd13a9fba9c44771b550bdb4a169ec6c
Autor:
Ewelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, Amir Jahic, Christian Beetz, Anna Sulek
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 9, p 5008 (2024)
The most common form of hereditary spastic paraplegia (HSP), SPG4 is caused by single nucleotide variants and microrearrangements in the SPAST gene. The high percentage of multi-exonic deletions or duplications observed in SPG4 patients is predispose
Externí odkaz:
https://doaj.org/article/6c94afd21f844714b653cf9f9d0e74b8
Autor:
Hyun Mi Kang, Dae Hun Kim, Mijin Kim, Yoohong Min, Bohyeon Jeong, Kyung Hee Noh, Da Yong Lee, Hyun-Soo Cho, Nam-Soon Kim, Cho-Rok Jung, Jung Hwa Lim
Publikováno v:
Cell & Bioscience, Vol 12, Iss 1, Pp 1-19 (2022)
Abstract Background Spastin significantly influences microtubule regulation in neurons and is implicated in the pathogenesis of hereditary spastic paraplegia (HSP). However, post-translational regulation of the spastin protein remains nebulous. The a
Externí odkaz:
https://doaj.org/article/936bd9846bc54bb8ad2ec95004ad2ca9
Publikováno v:
Case Reports in Neurology, Vol 13, Iss 3, Pp 763-771 (2021)
Hereditary spastic paraplegias (HSPs) are rare neurological disorders caused by degeneration of the corticospinal tract. Among the 79 causative genes involved in HSPs, variants in SPAST on chromosome 2p22, which encodes the microtubule-severing prote
Externí odkaz:
https://doaj.org/article/ad7956db9301452a839dc2ffeee685f8
Akademický článek
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Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
IntroductionHereditary spastic paraplegias (HSPs) are genetic neurodegenerative diseases. The most common form of pure HSP that is inherited in an autosomal dominant manner is spastic paraplegia type 4 (SPG4), which is caused by mutations in the SPAS
Externí odkaz:
https://doaj.org/article/010acc9ed2314ea58ca8693227ecff62
Akademický článek
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Akademický článek
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