Zobrazeno 1 - 10
of 241
pro vyhledávání: '"VPS13A"'
Autor:
Jingqi Lin, Hongmei Meng, Nilupaer Shafeng, Jiaai Li, Huaiyu Sun, Xi Yang, Zhiqing Chen, Shuai Hou
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
VPS13A disease (also known as Chorea-Acanthocytosis, ChAc) is a representative subtype of the neuroacanthocytosis (NA) syndromes, characterized by neurodegeneration in the central nervous system and acanthocytosis in peripheral blood. It is a rare au
Externí odkaz:
https://doaj.org/article/bc69abdae1e94afd889d1ac2b2d4a84f
Publikováno v:
Ecotoxicology and Environmental Safety, Vol 286, Iss , Pp 117225- (2024)
Atrazine (ATR) is a broad-spectrum herbicide with dopaminergic (DAergic) neurotoxicity that can cause Parkinson’s disease (PD)-like syndrome. However, research on preventing ATR neurotoxicity is unclear. Soybean isoflavones (SI) are natural plant c
Externí odkaz:
https://doaj.org/article/0c4305af6a2f4644a26e13d7f365196d
Autor:
Martin Paucar, Josephine Wincent, Charlotta Rubin, Kevin Peikert, Josefin Kyhle, Stellan Hertegård, Riita Möller, Soheir Beshara, Per Svenningsson
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
Background and objectivesThe diseases historically known as neuroacanthocytosis (NA) conditions include VPS13A disease (formerly chorea-acanthocytosis) and XK disease (formerly McLeod syndrome). Here we report a patient with a hyperkinetic syndrome a
Externí odkaz:
https://doaj.org/article/eae0ba7487144d11b62fd159bba4bb20
Akademický článek
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Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 9, Pp n/a-n/a (2024)
ABSTRACT Background McLeod syndrome (MLS) and chorea‐acanthocytosis (ChAc) are exceedingly rare diseases characterized by a variety of movement disorders including chorea, dystonia, and Parkinsonism. Genetic analysis plays a key role in early and a
Externí odkaz:
https://doaj.org/article/ef32ed2f7ad54fd0af19b2743a2258ea
Autor:
Carolina A. Hernández, Kevin Peikert, Min Qiao, Alexis Darras, Jonathan R. A. de Wilde, Jennifer Bos, Maya Leibowitz, Ian Galea, Christian Wagner, Minke A. E. Rab, Ruth H. Walker, Andreas Hermann, Eduard J. van Beers, Richard van Wijk, Lars Kaestner
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
IntroductionThe unique red blood cell (RBC) properties that characterize the rare neuroacanthocytosis syndromes (NAS) have prompted the exploration of osmotic gradient ektacytometry (Osmoscan) as a diagnostic tool for these disorders. In this explora
Externí odkaz:
https://doaj.org/article/a433a12c91cc42ffa100048ad50fa0a9
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Chorea-acanthocytosis (ChAc) is a rare autosomal recessive inherited syndrome with heterogeneous symptoms, which makes it a challenge for early diagnosis. The mutation of VPS13A is considered intimately related to the pathogenesis of ChAc. To date, d
Externí odkaz:
https://doaj.org/article/5e314191dc474b8791acf2613ff11088
Autor:
Esther García-García, Maria Carreras-Caballé, Albert Coll-Manzano, Alba Ramón-Lainez, Gisela Besa-Selva, Esther Pérez-Navarro, Cristina Malagelada, Jordi Alberch, Mercè Masana, Manuel J. Rodríguez
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
VPS13A disease and Huntington’s disease (HD) are two basal ganglia disorders that may be difficult to distinguish clinically because they have similar symptoms, neuropathological features, and cellular dysfunctions with selective degeneration of th
Externí odkaz:
https://doaj.org/article/f58ef2d5c14649acb53efd53429f4a2c
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-5 (2023)
Abstract Background Chorea-acanthocytosis (ChAc) is a rare hereditary autosomal recessive neurodegenerative disorder caused by pathogenic variants of the Vacuolar Protein Sorting 13 homolog A (VPS13A) gene. The variant spectrum of VPS13A has not been
Externí odkaz:
https://doaj.org/article/6c9a1ddcaae3468faba45693bbbf1948
Autor:
Esther García-García, Alba Ramón-Lainez, Sara Conde-Berriozabal, Daniel del Toro, Georgia Escaramis, Albert Giralt, Mercè Masana, Jordi Alberch, Manuel J. Rodríguez
Publikováno v:
Neurobiology of Disease, Vol 187, Iss , Pp 106292- (2023)
Chorea-acanthocytosis (ChAc) is an inherited neurodegenerative movement disorder caused by VPS13A gene mutations leading to the absence of protein expression. The striatum is the most affected brain region in ChAc patients. However, the study of the
Externí odkaz:
https://doaj.org/article/3c868d8cd2df4fd8827a1a7e0e521fa0