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VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P2 in yeast and mouse

The EMBO journal, 2008-12, Vol.27 (24), p.3221-3234

2008

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Etiology of Human Genetic Disease on the Fly

Trends in genetics, 2017-06, Vol.33 (6), p.391-398

2017

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A genome-wide CRISPR screen identifies DPM1 as a modifier of DPAGT1 deficiency and ER stress

PLoS genetics, 2022-09, Vol.18 (9), p.e1010430-e1010430

2022

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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

PLoS genetics, 2022-06, Vol.18 (6), p.e1010228-e1010228

2022

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Insulin Potentiates JAK/STAT Signaling to Broadly Inhibit Flavivirus Replication in Insect Vectors

Cell reports (Cambridge), 2019-11, Vol.29 (7), p.1946-1960.e5

2019

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Induction of excessive endoplasmic reticulum stress in the Drosophila male accessory gland results in infertility

PloS one, 2015-03, Vol.10 (3), p.e0119386

2015

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Baldspot/ELOVL6 is a conserved modifier of disease and the ER stress response

PLoS genetics, 2018-08, Vol.14 (8), p.e1007557-e1007557

2018

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The dynamic effect of genetic variation on the in vivo ER stress transcriptional response in different tissues

G3 : genes - genomes - genetics, 2022-05, Vol.12 (6)

2022

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Using natural variation in Drosophila to discover previously unknown endoplasmic reticulum stress genes

Proceedings of the National Academy of Sciences - PNAS, 2013-05, Vol.110 (22), p.9013-9018

2013

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The genetic architecture of the genome-wide transcriptional response to ER stress in the mouse

PLoS genetics, 2015-02, Vol.11 (2), p.e1004924-e1004924

2015

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Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J

PLoS genetics, 2011-06, Vol.7 (6), p.e1002104-e1002104

2011

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A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency

eLife, 2020-12, Vol.9

2020

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Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration

Brain (London, England : 1878), 2008-08, Vol.131 (8), p.1990-2001

2008

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Bringing genetic background into focus

Nature reviews. Genetics, 2016-02, Vol.17 (2), p.63

Chow, Clement Y

2016

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Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice

Proceedings of the National Academy of Sciences - PNAS, 2007-10, Vol.104 (44), p.17518-17523

2007

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

G3 : genes - genomes - genetics, 2019-12, Vol.9 (12), p.3995-4005

2019

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Genetic Modifiers of Neurodegeneration in a Drosophila Model of Parkinson's Disease

Genetics (Austin), 2018-08, Vol.209 (4), p.1345-1356

2018

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

Human molecular genetics, 2018-03, Vol.27 (6), p.1055-1066

2018

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A Drosophila screen identifies a role for histone methylation in ER stress preconditioning

G3 : genes - genomes - genetics, 2024-02, Vol.14 (2)

2024

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Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation in Drosophila

Human molecular genetics, 2016-02, Vol.25 (4), p.651-659

2016

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Characterizing genetic variation in the regulation of the ER stress response through computational and cis-eQTL analyses

G3 : genes - genomes - genetics, 2023-12, Vol.13 (12)

2023

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Decoupling of Apoptosis from Activation of the ER Stress Response by the Drosophila Metallopeptidase superdeath

Genetics (Austin), 2020-04, Vol.214 (4), p.913-925

2020

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Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency

The journal of clinical endocrinology and metabolism, 2022-02, Vol.107 (3), p.685-714

2022

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Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

Nature, 2007-07, Vol.448 (7149), p.68-72

2007

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DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in Oogenesis

The journal of clinical endocrinology and metabolism, 2023-08, Vol.108 (9), p.2330-2335

2023

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VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P2 in yeast and mouse

Etiology of Human Genetic Disease on the Fly

A genome-wide CRISPR screen identifies DPM1 as a modifier of DPAGT1 deficiency and ER stress

An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiency

Insulin Potentiates JAK/STAT Signaling to Broadly Inhibit Flavivirus Replication in Insect Vectors

Induction of excessive endoplasmic reticulum stress in the Drosophila male accessory gland results in infertility

Baldspot/ELOVL6 is a conserved modifier of disease and the ER stress response

The dynamic effect of genetic variation on the in vivo ER stress transcriptional response in different tissues

Using natural variation in Drosophila to discover previously unknown endoplasmic reticulum stress genes

The genetic architecture of the genome-wide transcriptional response to ER stress in the mouse

Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J

A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration

Bringing genetic background into focus

Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice

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

Genetic Modifiers of Neurodegeneration in a Drosophila Model of Parkinson's Disease

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

A Drosophila screen identifies a role for histone methylation in ER stress preconditioning

Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation in Drosophila

Characterizing genetic variation in the regulation of the ER stress response through computational and cis-eQTL analyses

Decoupling of Apoptosis from Activation of the ER Stress Response by the Drosophila Metallopeptidase superdeath

Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in Oogenesis

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