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Drosophila models of phosphatidylinositol glycan biosynthesis class A congenital disorder of glycosylation (PIGA-CDG) mirror patient phenotypes.
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- G3: Genes | Genomes | Genetics, 2024, v. 14, n. 3, p. 1, doi. 10.1093/g3journal/jkad291
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- Article
A Drosophila screen identifies a role for histone methylation in ER stress preconditioning.
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- G3: Genes | Genomes | Genetics, 2024, v. 14, n. 2, p. 1, doi. 10.1093/g3journal/jkad265
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Characterizing genetic variation in the regulation of the ER stress response through computational and cis-eQTL analyses.
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- G3: Genes | Genomes | Genetics, 2023, v. 13, n. 12, p. 1, doi. 10.1093/g3journal/jkad229
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- Article
DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in Oogenesis.
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- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 9, p. 2330, doi. 10.1210/clinem/dgad126
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- Article
A genome-wide CRISPR screen identifies DPM1 as a modifier of DPAGT1 deficiency and ER stress.
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- PLoS Genetics, 2022, v. 18, n. 9, p. 1, doi. 10.1371/journal.pgen.1010430
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An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiency.
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- PLoS Genetics, 2022, v. 18, n. 6, p. 1, doi. 10.1371/journal.pgen.1010228
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The dynamic effect of genetic variation on the in vivo ER stress transcriptional response in different tissues.
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- G3: Genes | Genomes | Genetics, 2022, v. 12, n. 6, p. 1, doi. 10.1093/g3journal/jkac104
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- Article
Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 3, p. 685, doi. 10.1210/clinem/dgab775
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- Article
A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency.
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- eLife, 2020, p. 1, doi. 10.7554/eLife.57831
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Decoupling of Apoptosis from Activation of the ER Stress Response by the Drosophila Metallopeptidase superdeath.
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- Genetics, 2020, v. 214, n. 4, p. 913, doi. 10.1534/genetics.119.303004
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Natural Genetic Variation Screen in Drosophila Identifies Wnt Signaling, Mitochondrial Metabolism, and Redox Homeostasis Genes as Modifiers of Apoptosis.
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- G3: Genes | Genomes | Genetics, 2019, v. 9, n. 12, p. 3995, doi. 10.1534/g3.119.400722
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- Article
Baldspot/ELOVL6 is a conserved modifier of disease and the ER stress response.
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- PLoS Genetics, 2018, v. 14, n. 8, p. 1, doi. 10.1371/journal.pgen.1007557
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Genetic Modifiers of Neurodegeneration in a Drosophila Model of Parkinson's Disease.
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- Genetics, 2018, v. 209, n. 4, p. 1345, doi. 10.1534/genetics.118.301119
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- Article
Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches.
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- Human Molecular Genetics, 2018, v. 27, n. 6, p. 1055, doi. 10.1093/hmg/ddy026
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- Article
Roles of Female and Male Genotype in Post-Mating Responses in Drosophila melanogaster.
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- Journal of Heredity, 2017, v. 108, n. 7, p. 740, doi. 10.1093/jhered/esx081
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Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation in Drosophila.
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- Human Molecular Genetics, 2016, v. 25, n. 4, p. 651, doi. 10.1093/hmg/ddv502
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Induction of Excessive Endoplasmic Reticulum Stress in the Drosophila Male Accessory Gland Results in Infertility.
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- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119386
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The Genetic Architecture of the Genome-Wide Transcriptional Response to ER Stress in the Mouse.
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- PLoS Genetics, 2015, v. 11, n. 2, p. 1, doi. 10.1371/journal.pgen.1004924
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Large Neurological Component to Genetic Differences Underlying Biased Sperm Use in Drosophila.
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- Genetics, 2013, v. 193, n. 1, p. 177, doi. 10.1534/genetics.112.146357
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Pathogenic Mechanism of the FIG4 Mutation Responsible for Charcot-Marie-Tooth Disease CMT4J.
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- PLoS Genetics, 2011, v. 7, n. 6, p. 1, doi. 10.1371/journal.pgen.1002104
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VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P<sub>2</sub> in yeast and mouse.
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- EMBO Journal, 2008, v. 27, n. 24, p. 3221, doi. 10.1038/emboj.2008.248
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Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.
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- Brain: A Journal of Neurology, 2008, v. 131, n. 8, p. 1990, doi. 10.1093/brain/awn114
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Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
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- Nature, 2007, v. 448, n. 7149, p. 68, doi. 10.1038/nature05876
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- Article