Zobrazeno 1 - 10
of 353
pro vyhledávání: '"Ellen Sidransky"'
Autor:
Sara Walton, Alexis Fenyi, Tyler Tittle, Ellen Sidransky, Gian Pal, Solji Choi, Ronald Melki, Bryan A. Killinger, Jeffrey H. Kordower
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-12 (2024)
Abstract Parkinson’s disease (PD) is a neurodegenerative disease characterized by progressive motor symptoms and alpha-synuclein (αsyn) aggregation in the nervous system. For unclear reasons, PD patients with certain GBA1 mutations (GBA-PD) have a
Externí odkaz:
https://doaj.org/article/83987de2bcdc453e9146bfa7ca565dcc
Publikováno v:
Genes, Vol 15, Iss 3, p 364 (2024)
Gaucher disease, an autosomal recessively inherited lysosomal storage disorder, results from biallelic mutations in the GBA1 gene resulting in deficient activity of the enzyme glucocerebrosidase. In Gaucher disease, the reduced levels and activity of
Externí odkaz:
https://doaj.org/article/d28fbb57aa7f4f678ef4ee97477a575a
Autor:
Alexandra Gehrlein, Vinod Udayar, Nadia Anastasi, Martino L. Morella, Iris Ruf, Doris Brugger, Sophia von der Mark, Ralf Thoma, Arne Rufer, Dominik Heer, Nina Pfahler, Anton Jochner, Jens Niewoehner, Luise Wolf, Matthias Fueth, Martin Ebeling, Roberto Villaseñor, Yanping Zhu, Matthew C. Deen, Xiaoyang Shan, Zahra Ehsaei, Verdon Taylor, Ellen Sidransky, David J. Vocadlo, Per-Ola Freskgård, Ravi Jagasia
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Abstract Mutations in glucocerebrosidase cause the lysosomal storage disorder Gaucher’s disease and are the most common risk factor for Parkinson’s disease. Therapies to restore the enzyme’s function in the brain hold great promise for treating
Externí odkaz:
https://doaj.org/article/dde4fa8e6e8a4bb89ade3a42cbcce8bb
Autor:
Makaila L. Furderer, Bahafta Berhe, Tiffany C. Chen, Stephen Wincovitch, Xuntian Jiang, Nahid Tayebi, Ellen Sidransky, Tae-Un Han
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 3, p 1827 (2024)
Gaucher disease (GD) is a lysosomal storage disorder stemming from biallelic mutations in GBA1, characterized by glucocerebrosidase dysfunction and glucocerebroside and glucosylsphingosine accumulation. Since phenotypes of murine models of GD often d
Externí odkaz:
https://doaj.org/article/884f1f5df0ce49058aab8c7ed9b71cd1
Autor:
Grisel J. Lopez, Jens Lichtenberg, Nahid Tayebi, Emory Ryan, Abigail L. Lecker, Ellen Sidransky
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
ObjectiveBiallelic mutations in GBA1, which encodes the lysosomal enzyme glucocerebrosidase, cause the lysosomal storage disorder Gaucher disease (GD). In addition, mutations in GBA1 are the most common genetic risk factor for future development of P
Externí odkaz:
https://doaj.org/article/020a56acc67745abbe77f3fb4f5ebfaa
Publikováno v:
Neural Regeneration Research, Vol 18, Iss 3, Pp 539-540 (2023)
Externí odkaz:
https://doaj.org/article/5d578e2b148f41288e69e21ba2bcef34
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Externí odkaz:
https://doaj.org/article/2c91095762e64f1dac87a3c694540d86
Publikováno v:
Molecular Neurodegeneration, Vol 14, Iss 1, Pp 1-16 (2019)
Abstract Mutations in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, are among the most common known genetic risk factors for the development of Parkinson disease and related synucleinopathies. A great deal is known about GBA1, as m
Externí odkaz:
https://doaj.org/article/6c6a54bc72fa447cb857f2cbcadd5484
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 10, p 5842 (2022)
Deficient acid β-glucocerebrosidase activity due to biallelic mutations in GBA1 results in Gaucher disease (GD). Patients with this lysosomal storage disorder exhibit a wide range of associated manifestations, spanning from virtually asymptomatic ad
Externí odkaz:
https://doaj.org/article/47a0fd24a8ef4f6c83d3612ff8a0cb4a
Publikováno v:
Biomolecules, Vol 12, Iss 5, p 616 (2022)
Lysosomes are ubiquitous membrane-bound organelles found in all eukaryotic cells. Outside of their well-known degradative function, lysosomes are integral in maintaining cellular homeostasis. Growing evidence has shown that lysosomal dysfunction play
Externí odkaz:
https://doaj.org/article/d8e119bef21c4f5891bfe8ccc366b2ca