Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Claire Y. Allan"'
Publikováno v:
Cells, Vol 13, Iss 7, p 610 (2024)
Autosomal dominant polycystic kidney disease (ADPKD) occurs when the proteins Polycystin-1 (PC1, PKD1) and Polycystin-2 (PC2, PKD2) contain mutations. PC1 is a large membrane receptor that can interact and form a complex with the calcium-permeable ca
Externí odkaz:
https://doaj.org/article/2dd6adcf9a854f74b39e13eb014eab9f
Autor:
Claire Y. Allan, Paul R. Fisher
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Mucolipidosis type IV, a devastating neurological lysosomal disease linked to mutations in the transient receptor potential channel mucolipin 1, TRPML1, a calcium permeable channel in the membranes of vesicles in endolysosomal system. TRPML1 function
Externí odkaz:
https://doaj.org/article/f824b2edc761467f8937dda83a2ea2e9
Autor:
Danuta Z. Loesch, Bruce E. Kemp, Minh Q. Bui, Paul R. Fisher, Claire Y. Allan, Oana Sanislav, Kevin R. W. Ngoei, Anna Atkinson, Flora Tassone, Sarah J. Annesley, Elsdon Storey
Publikováno v:
Frontiers in Psychiatry, Vol 12 (2021)
Fragile X Associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative disorder affecting carriers of premutation alleles (PM) of the X-linked FMR1 gene, which contain CGG repeat expansions of 55–200 range in a non-coding region. This late-onse
Externí odkaz:
https://doaj.org/article/ae4074102c024825816d2c1abaa6b6b0
Autor:
Paul R. Fisher, Claire Y. Allan, Oana Sanislav, Anna Atkinson, Kevin R. W. Ngoei, Bruce E. Kemp, Elsdon Storey, Danuta Z. Loesch, Sarah J. Annesley
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 19, p 10393 (2021)
The X-linked FMR1 gene contains a non-coding trinucleotide repeat in its 5’ region that, in normal, healthy individuals contains 20–44 copies. Large expansions of this region (>200 copies) cause fragile X syndrome (FXS), but expansions of 55–19
Externí odkaz:
https://doaj.org/article/8a8f39fe11f04a3eb1e6e7bebc8b7df2
Autor:
Sarah J. Annesley, Sui T. Lay, Shawn W. De Piazza, Oana Sanislav, Eleanor Hammersley, Claire Y. Allan, Lisa M. Francione, Minh Q. Bui, Zhi-Ping Chen, Kevin R. W. Ngoei, Flora Tassone, Bruce E. Kemp, Elsdon Storey, Andrew Evans, Danuta Z. Loesch, Paul R. Fisher
Publikováno v:
Disease Models & Mechanisms, Vol 9, Iss 11, Pp 1295-1305 (2016)
In combination with studies of post-mortem Parkinson's disease (PD) brains, pharmacological and genetic models of PD have suggested that two fundamental interacting cellular processes are impaired – proteostasis and mitochondrial respiration. We ha
Externí odkaz:
https://doaj.org/article/96d199417b6546faba92ecd66b2679dc
Autor:
Danuta Z. Loesch, Nicholas Trost, Minh Q. Bui, Eleanor Hammersley, Sui T. Lay, Sarah J. Annesley, Oana Sanislav, Claire Y. Allan, Flora Tassone, Zhi-Ping Chen, Kevin R. W. Ngoei, Bruce E. Kemp, David Francis, Paul R. Fisher, Elsdon Storey
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
The fragile X premutation (PM) allele contains a CGG expansion of 55–200 repeats in the FMR1 gene’s promoter. Male PM carriers have an elevated risk of developing neurological and psychiatric changes, including an approximately 50% risk of the fr
Externí odkaz:
https://doaj.org/article/ed047210fedd40acbad16fd88aea7db5
Autor:
Daniel Missailidis, Oana Sanislav, Claire Y. Allan, Paige K. Smith, Sarah J. Annesley, Paul R. Fisher
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 4, p 2046 (2021)
Although understanding of the biomedical basis of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is growing, the underlying pathological mechanisms remain uncertain. We recently reported a reduction in the proportion of basal oxygen cons
Externí odkaz:
https://doaj.org/article/d37dca8c33954e93ac764d942cae1121
Autor:
Sanjanie Fernando, Claire Y. Allan, Katelyn Mroczek, Xavier Pearce, Oana Sanislav, Paul R. Fisher, Sarah J. Annesley
Publikováno v:
Cells, Vol 9, Iss 10, p 2289 (2020)
Alpha synuclein has been linked to both sporadic and familial forms of Parkinson’s disease (PD) and is the most abundant protein in Lewy bodies a hallmark of Parkinson’s disease. The function of this protein and the molecular mechanisms underlyin
Externí odkaz:
https://doaj.org/article/fc9bad83468340b99157e5f492da716e
Autor:
Daniel Missailidis, Sarah J. Annesley, Claire Y. Allan, Oana Sanislav, Brett A. Lidbury, Donald P. Lewis, Paul R. Fisher
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 3, p 1074 (2020)
Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is an enigmatic condition characterized by exacerbation of symptoms after exertion (post-exertional malaise or “PEM”), and by fatigue whose severity and associated requirement for rest a
Externí odkaz:
https://doaj.org/article/93637d59641b4be9a7f7ece22a132774
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 3, p 1142 (2020)
Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a devastating illness whose biomedical basis is now beginning to be elucidated. We reported previously that, after recovery from frozen storage, lymphocytes (peripheral blood mononuclear
Externí odkaz:
https://doaj.org/article/d930787733ce4060a1c60951154be1e8