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Akademický článek

Rapid in vitro quantification of TDP-43 and FUS mislocalisation for screening of gene variants implicated in frontotemporal dementia and amyotrophic lateral sclerosis

Autor: Lisa J. Oyston, Stephanie Ubiparipovic, Lauren Fitzpatrick, Marianne Hallupp, Lauren M. Boccanfuso, John B. Kwok, Carol Dobson-Stone

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)

Abstract Identified genetic mutations cause 20% of frontotemporal dementia (FTD) and 5-10% of amyotrophic lateral sclerosis (ALS) cases: however, for the remainder of patients the origin of disease is uncertain. The overlap in genetic, clinical and p

Externí odkaz: https://doaj.org/article/d6b114cd448a4c3994d1dd8d4af96bb4

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Akademický článek

Genome-wide gene-based analyses of weight loss interventions identify a potential role for NKX6.3 in metabolism

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)

Individuals show large variability in their capacity to lose weight and maintain this weight. Here, the authors perform GWAS in two weight loss intervention cohorts and identify two genetic loci associated with weight loss that are taken forward for

Externí odkaz: https://doaj.org/article/69e3b05bacbb4d4db475ac38f90a9bda

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Akademický článek

PGC1α Controls Sucrose Taste Sensitization in Drosophila

Autor: Qiao-Ping Wang, Yong Qi Lin, Mei-Ling Lai, Zhiduan Su, Lisa J. Oyston, Teleri Clark, Scarlet J. Park, Thang M. Khuong, Man-Tat Lau, Victoria Shenton, Yan-Chuan Shi, David E. James, William W. Ja, Herbert Herzog, Stephen J. Simpson, G. Gregory Neely

Publikováno v: Cell Reports, Vol 31, Iss 1, Pp - (2020)

Summary: Perceived palatability of food controls caloric intake. Sweet taste is the primary means of detecting the carbohydrate content of food. Surprisingly, sweet taste sensitivity is responsive to extrinsic factors like diet, and this occurs by un

Externí odkaz: https://doaj.org/article/59c335b1afda413f96e094fbfa26b456

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Akademický článek

Neuronal Lamin regulates motor circuit integrity and controls motor function and lifespan

Autor: Lisa J. Oyston, Yong Qi Lin, Thang M. Khuong, Qiao-Ping Wang, Man Tat Lau, Teleri Clark, G. Gregory Neely

Publikováno v: Cell Stress, Vol 2, Iss 9, Pp 225-232 (2018)

Neuronal aging involves a progressive decline in cognitive abilities and loss of motor function. Mutations in human Lamin genes (LMNA, LMNB1, LMNB2) lead to a wide-range of diseases including muscular dystrophy, peripheral neuropathy and progeria. He

Externí odkaz: https://doaj.org/article/1d4279445954417395f36152ee5f91bf

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TDP-43 subcellular mislocalisation is correlated with loss of optineurin binding for frontotemporal dementia and amyotrophic lateral sclerosis associated TBK1 missense variants

Autor: Lisa J. Oyston, Lauren M. Boccanfuso, Lauren Fitzpatrick, Johnny Zhang, Marianne Hallupp, John B. Kwok, Carol Dobson-Stone

BackgroundFrontotemporal dementia (FTD) is one of the most common forms of younger-onset dementia. FTD is genetically, pathologically and clinically related to amyotrophic lateral sclerosis (ALS), a rapidly progressive neurodegenerative disorder. Mut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::651498a8f064ad2fbae39415653052ff
https://doi.org/10.1101/2022.06.02.494603

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Rapid in vitro quantification of TDP-43 and FUS mislocalisation for screening of gene variants implicated in frontotemporal dementia and amyotrophic lateral sclerosis

Autor: Lauren Fitzpatrick, Carol Dobson-Stone, Marianne Hallupp, Stephanie Ubiparipovic, Lauren Boccanfuso, Lisa J. Oyston, John B.J. Kwok

Publikováno v: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)

Identified genetic mutations cause 20% of frontotemporal dementia (FTD) and 5-10% of amyotrophic lateral sclerosis (ALS) cases: however, for the remainder of patients the origin of disease is uncertain. The overlap in genetic, clinical and pathologic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fc9d1a6a4a1e1a88b8b259ad725680b
http://europepmc.org/articles/PMC8295343

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Genome-wide gene-based analyses of weight loss interventions identify a potential role for NKX6.3 in metabolism

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Nature Communications
Nature Communications, 10:540, 1-10. Nature Publishing Group
Valsesia, A, Wang, Q-P, Gheldof, N, Carayol, J, Ruffieux, H, Clark, T, Shenton, V, Oyston, L J, Lefebvre, G, Metairon, S, Chabert, C, Walter, O, Mironova, P, Lau, P, Descombes, P, Viguerie, N, Langin, D, Harper, M-E, Astrup, A, Saris, W H, Dent, R, Neely, G G & Hager, J 2019, ' Genome-wide gene-based analyses of weight loss interventions identify a potential role for NKX6.3 in metabolism ', Nature Communications, vol. 10, 540 . https://doi.org/10.1038/s41467-019-08492-8

Hundreds of genetic variants have been associated with Body Mass Index (BMI) through genome-wide association studies (GWAS) using observational cohorts. However, the genetic contribution to efficient weight loss in response to dietary intervention re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fbf029dd2a9714ec429156828dcacb6
https://cris.maastrichtuniversity.nl/en/publications/1efaec5b-5777-415c-8f4a-7de650830749

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