Výsledky vyhledávání - "Katie G Owings"

Akademický článek

A natural genetic variation screen identifies insulin signaling, neuronal communication, and innate immunity as modifiers of hyperglycemia in the absence of Sirt1

Autor: Rebecca A S Palu, Katie G Owings, John G Garces, Audrey Nicol

Publikováno v: G3: Genes, Genomes, Genetics, Vol 12, Iss 6 (2022)

AbstractVariation in the onset, progression, and severity of symptoms associated with metabolic disorders such as diabetes impairs the diagnosis and treatment of at-risk patients. Diabetes symptoms, and patient variation in these symptoms, are attrib

Externí odkaz: https://doaj.org/article/118509f626e04105b57ce8e7ee0305a6

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Akademický článek

A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency

Autor: Dana M Talsness, Katie G Owings, Emily Coelho, Gaelle Mercenne, John M Pleinis, Raghavendran Partha, Kevin A Hope, Aamir R Zuberi, Nathan L Clark, Cathleen M Lutz, Aylin R Rodan, Clement Y Chow

Publikováno v: eLife, Vol 9 (2020)

N-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in the NGLY1 gene cause NGLY1 deficiency, which is characterized by developmental delay, seizures, and a lack of sweat and tears. To model the phenotypic variab

Externí odkaz: https://doaj.org/article/b15615d75fd24af79e4e3c0481b7aa57

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Natural Genetic Variation Screen inDrosophilaIdentifies Wnt Signaling, Mitochondrial Metabolism, and Redox Homeostasis Genes as Modifiers of Apoptosis

Autor: Rebecca A.S. Palu, Kaitlyn Stevens, Elaine Ong, Shani Chung, Clement Y. Chow, Katie G Owings, Alan G. Goodman

Publikováno v: G3: Genes, Genomes, Genetics, Vol 9, Iss 12, Pp 3995-4005 (2019)

Apoptosis is the primary cause of degeneration in a number of neuronal, muscular, and metabolic disorders. These diseases are subject to a great deal of phenotypic heterogeneity in patient populations, primarily due to differences in genetic variatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aeb19752ff9145057a184d60a1461117
https://doi.org/10.1534/g3.119.400722

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A natural genetic variation screen identifies insulin signaling, neuronal communication, and innate immunity as modifiers of hyperglycemia in the absence of Sirt1

Autor: Katie G. Owings, Rebecca A.S. Palu

Variation in the onset, progression, and severity of symptoms associated with metabolic disorders such as diabetes impairs the diagnosis and treatment of at-risk patients. Diabetes symptoms, and patient variation in these symptoms, is attributed to a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::58230a9a6587a55f03eea765c9a4d060
https://doi.org/10.1101/2021.09.13.460173

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A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency

Autor: Kevin A. Hope, Cathleen M. Lutz, Aylin R. Rodan, Dana M Talsness, Clement Y. Chow, Gaelle Mercenne, Raghavendran Partha, John M. Pleinis, Emily Coelho, Aamir Zuberi, Nathan L. Clark, Katie G Owings

Publikováno v: eLife, Vol 9 (2020)
eLife

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9961ead57ccfe6d0cbfc2c51524c39e9
https://elifesciences.org/articles/57831

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Author response: A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency

Autor: Kevin A. Hope, Aamir Zuberi, Aylin R. Rodan, Raghavendran Partha, Katie G Owings, Dana M Talsness, Emily Coelho, John M. Pleinis, Gaelle Mercenne, Clement Y. Chow, Nathan L. Clark, Cathleen M. Lutz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cc28d4119d21c2320509b791be89a5d8
https://doi.org/10.7554/elife.57831.sa2

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A Drosophila natural variation screen identifies NKCC1 as a substrate of NGLY1 deglycosylation and a modifier of NGLY1 deficiency

Autor: Aylin R. Rodan, Raghavendran Partha, Katie G Owings, Emily Coelho, Nathan L. Clark, Cathleen M. Lutz, Aamir Zuberi, Clement Y. Chow, Gaelle Mercenne, Dana M Talsness, John M. Pleinis

N-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in theNGLY1gene cause NGLY1 deficiency, which is characterized by developmental delay, seizures, and a lack of sweat and tears. To model the phenotypic variabil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ece188007ab0c5db7856b4541320e3c9

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Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches

Autor: Katie G Owings, Matthew Might, Yiling Bi, Joshua B. Lowry, Clement Y. Chow

Publikováno v: Human Molecular Genetics. 27:1055-1066

Autosomal recessive loss-of-function mutations in N-glycanase 1 (NGLY1) cause NGLY1 deficiency, the only known human disease of deglycosylation. Patients present with developmental delay, movement disorder, seizures, liver dysfunction and alacrima. N

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::373bcd9658beaad9c0fadda84c6fcef3
https://doi.org/10.1093/hmg/ddy026

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Akademický článek

Natural Genetic Variation Screen in Drosophila Identifies Wnt Signaling, Mitochondrial Metabolism, and Redox Homeostasis Genes as Modifiers of Apoptosis

Autor: Rebecca A. S. Palu, Elaine Ong, Kaitlyn Stevens, Shani Chung, Katie G. Owings, Alan G. Goodman, Clement Y. Chow

Publikováno v: G3: Genes, Genomes, Genetics, Vol 9, Iss 12, Pp 3995-4005 (2019)

Externí odkaz: https://doaj.org/article/4545784ddd644bcea663b88220665b90

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