Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Stuart K. Plenderleith"'
Autor:
Maxinne Watchon, Amanda L. Wright, Holly I. Ahel, Katherine J. Robinson, Stuart K. Plenderleith, Andrea Kuriakose, Kristy C. Yuan, Angela S. Laird
Publikováno v:
Molecular Brain, Vol 17, Iss 1, Pp 1-15 (2024)
Abstract Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3, is a fatal neurodegenerative disease that causes loss of balance and motor co-ordination, eventually leading to paralysis. It is caused by the autosomal dominant inhe
Externí odkaz:
https://doaj.org/article/6f50372d2c4746069222f52115dcf314
Publikováno v:
Cells, Vol 12, Iss 6, p 893 (2023)
Background: Spinocerebellar ataxia 3 (SCA3, also known as Machado Joseph disease) is a fatal neurodegenerative disease caused by the expansion of the trinucleotide repeat region within the ATXN3/MJD gene. The presence of this genetic expansion result
Externí odkaz:
https://doaj.org/article/2075cc6e9aed4df8bef93e84a7808f11
Autor:
Katherine J. Robinson, Madelaine C. Tym, Alison Hogan, Maxinne Watchon, Kristy C. Yuan, Stuart K. Plenderleith, Emily K. Don, Angela S. Laird
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 10 (2021)
Spinocerebellar ataxia 3 (SCA3, also known as Machado–Joseph disease) is a neurodegenerative disease caused by inheritance of a CAG repeat expansion within the ATXN3 gene, resulting in polyglutamine (polyQ) repeat expansion within the ataxin-3 prot
Externí odkaz:
https://doaj.org/article/58a28b3fec1546bcae968ee506d3ac17
Publikováno v:
Cells, Vol 10, Iss 10, p 2592 (2021)
Spinocerebellar ataxia type 3 (SCA3) is a hereditary ataxia caused by inheritance of a mutated form of the human ATXN3 gene containing an expanded CAG repeat region, encoding a human ataxin-3 protein with a long polyglutamine (polyQ) repeat region. P
Externí odkaz:
https://doaj.org/article/be38f70e022342efa83d89988eed3193
Autor:
Maxinne Watchon, Angela S. Laird, Kristy C. Yuan, Katherine J. Robinson, Stuart K. Plenderleith
Publikováno v:
Cells
Cells, Vol 10, Iss 2592, p 2592 (2021)
Cells; Volume 10; Issue 10; Pages: 2592
Cells, Vol 10, Iss 2592, p 2592 (2021)
Cells; Volume 10; Issue 10; Pages: 2592
Spinocerebellar ataxia type 3 (SCA3) is a hereditary ataxia caused by inheritance of a mutated form of the human ATXN3 gene containing an expanded CAG repeat region, encoding a human ataxin-3 protein with a long polyglutamine (polyQ) repeat region. P
Autor:
René Koopman, Audrey S. M. Chan, Jennifer Trieu, Marissa K. Caldow, Gordon S. Lynch, Justin P. Hardee, Stuart K Plenderleith
Publikováno v:
American journal of physiology. Cell physiology. 321(2)
Impaired oxidative capacity and mitochondrial function contribute to the dystrophic pathology in muscles of patients with Duchenne muscular dystrophy (DMD) and in relevant mouse models of the disease. Emerging evidence suggests an association between
Autor:
Maxinne Watchon, Katherine J. Robinson, Luan Luu, Kristy C. Yuan, Stuart K. Plenderleith, Flora Cheng, Emily K. Don, Garth A. Nicholson, Albert Lee, Angela S. Laird
Spinocerebellar ataxia 3 (SCA3, also known as Machado Joseph disease) is a fatal neurodegenerative disease caused by expansion of the trinucleotide repeat region within theATXN3/MJDgene. Mutation ofATXN3causes formation of ataxin-3 protein aggregates
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::462ce65f94c9532364ee6b72a7244433
https://doi.org/10.1101/2021.04.30.442119
https://doi.org/10.1101/2021.04.30.442119
Autor:
Emily K. Don, Kristy C. Yuan, Maxinne Watchon, Stuart K. Plenderleith, Madelaine C. Tym, Alison L. Hogan, Angela S. Laird, Katherine J. Robinson
Spinocerebellar ataxia-3 (SCA3, also known as Machado Joseph Disease), is a neurodegenerative disease caused by inheritance of aATXN3gene containing a CAG repeat expansion, resulting in presence of a polyglutamine (polyQ) repeat expansion within the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::41643f6e1e991ca6e8063f58ce3b1571
https://doi.org/10.1101/2021.03.09.434364
https://doi.org/10.1101/2021.03.09.434364