Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Clement Y, Chow"'
Autor:
Hans M Dalton, Naomi J Young, Alexys R Berman, Heather D Evans, Sydney J Peterson, Kaylee A Patterson, Clement Y Chow
Publikováno v:
PLoS Genetics, Vol 20, Iss 10, p e1011458 (2024)
DPAGT1-CDG is a Congenital Disorder of Glycosylation (CDG) that lacks effective therapies. It is caused by mutations in the gene DPAGT1 which encodes the first enzyme in N-linked glycosylation. We used a Drosophila rough eye model of DPAGT1-CDG with
Externí odkaz:
https://doaj.org/article/ab31bd68f505493d9707b2f91705c247
Autor:
Hans M Dalton, Raghuvir Viswanatha, Roderick Brathwaite, Jae Sophia Zuno, Alexys R Berman, Rebekah Rushforth, Stephanie E Mohr, Norbert Perrimon, Clement Y Chow
Publikováno v:
PLoS Genetics, Vol 18, Iss 9, p e1010430 (2022)
Partial loss-of-function mutations in glycosylation pathways underlie a set of rare diseases called Congenital Disorders of Glycosylation (CDGs). In particular, DPAGT1-CDG is caused by mutations in the gene encoding the first step in N-glycosylation,
Externí odkaz:
https://doaj.org/article/bbc74efb857641bd92e0108b5c183c6e
Publikováno v:
PLoS Genetics, Vol 18, Iss 6 (2022)
NGLY1 deficiency, a rare disease with no effective treatment, is caused by autosomal recessive, loss-of-function mutations in the N-glycanase 1 (NGLY1) gene and is characterized by global developmental delay, hypotonia, alacrima, and seizures. We use
Externí odkaz:
https://doaj.org/article/a3ea1336b01f4a54b35171cbefbf3fc4
Autor:
Nikki D Russell, Clement Y Chow
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 12, Iss 6 (2022)
AbstractThe genetic regulation of gene expression varies greatly across tissue-type and individuals and can be strongly influenced by the environment. Many variants, under healthy control conditions, may be silent or even have the opposite effect und
Externí odkaz:
https://doaj.org/article/48c6b98c941c43108ce7b20134fac2f2
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
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
Autor:
Laura R.H. Ahlers, Chasity E. Trammell, Grace F. Carrell, Sophie Mackinnon, Brandi K. Torrevillas, Clement Y. Chow, Shirley Luckhart, Alan G. Goodman
Publikováno v:
Cell Reports, Vol 29, Iss 7, Pp 1946-1960.e5 (2019)
Summary: The World Health Organization estimates that more than half of the world’s population is at risk for vector-borne diseases, including arboviruses. Because many arboviruses are mosquito borne, investigation of the insect immune response wil
Externí odkaz:
https://doaj.org/article/658c48ba474b4f50b13a3a6367fad43a
Autor:
Rebecca A S Palu, Clement Y Chow
Publikováno v:
PLoS Genetics, Vol 14, Iss 8, p e1007557 (2018)
Endoplasmic reticulum (ER) stress is an important modifier of human disease. Genetic variation in response genes is linked to inter-individual differences in the ER stress response. However, the mechanisms and pathways by which genetic modifiers are
Externí odkaz:
https://doaj.org/article/0dddfa0e24b940c6b34b3a3e9bb31ebe
Publikováno v:
Genetics. 214:913-925
Genetic diseases display a great deal of variability in patient outcomes, much of which is caused by differences in genetic background. The endoplasmic reticulum (ER) stress response commonly modifies degenerative disease... Endoplasmic reticulum (ER
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57148f8a732b5107a36ac7710815e183
https://doi.org/10.1534/genetics.119.303004
https://doi.org/10.1534/genetics.119.303004
Autor:
Hans M. Dalton, Raghuvir Viswanatha, Ricky Brathwaite, Jae Sophia Zuno, Stephanie E. Mohr, Norbert Perrimon, Clement Y. Chow
Partial loss-of-function mutations in glycosylation pathways underlie a set of rare diseases called Congenital Disorders of Glycosylation (CDGs). In particular, DPAGT1-CDG is caused by mutations in the gene encoding the first step in N-glycosylation,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::13641d53275671d6ceff72f6a3c66ca6
https://doi.org/10.1101/2021.12.03.471178
https://doi.org/10.1101/2021.12.03.471178
