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Structural and functional deficits in a neuronal calcium sensor-1 mutant identified in a case of autistic spectrum disorder

PloS one, 2010-05, Vol.5 (5), p.e10534

2010

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Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

American journal of human genetics, 2013-12, Vol.93 (6), p.1001-1014

2013

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Rab18 and a Rab18 GEF complex are required for normal ER structure

The Journal of cell biology, 2014-06, Vol.205 (5), p.707-720

2014

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Disease-associated inosine misincorporation into RNA hinders translation

Nucleic acids research, 2022-09, Vol.50 (16), p.9306-9318

2022

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ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

PLoS genetics, 2019-03, Vol.15 (3), p.e1007605-e1007605

2019

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Inosine triphosphate pyrophosphatase: A guardian of the cellular nucleotide pool and potential mediator of RNA function

Wiley interdisciplinary reviews. RNA, 2023-09, Vol.14 (5), p.e1790

2023

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Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

American journal of human genetics, 2011-04, Vol.88 (4), p.499-507

2011

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Differential dynamics of Rab3A and Rab27A on secretory granules

Journal of cell science, 2007-03, Vol.120 (6), p.973-984

2007

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RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes

Biochemical Society transactions, 2012-12, Vol.40 (6), p.1394-1397

2012

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Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis

The Journal of biological chemistry, 2023-11, Vol.299 (11), p.105295, Article 105295

2023

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A gain-of-function mutant of Munc18-1 stimulates secretory granule recruitment and exocytosis and reveals a direct interaction of Munc18-1 with Rab3

Biochemical journal, 2008-01, Vol.409 (2), p.407-416

2008

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Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

Investigative ophthalmology & visual science, 2017-01, Vol.58 (1), p.594-603

2017

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Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

Open biology, 2015-06, Vol.5 (6), p.150047-150047

2015

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The Functions of Munc18-1 in Regulated Exocytosis

Annals of the New York Academy of Sciences, 2009-01, Vol.1152 (1), p.76-86

2009

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Network stack specialization for performance

Computer communication review, 2014, Vol.44 (4), p.175-186

2014

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The Rab27 effector Rabphilin, unlike Granuphilin and Noc2, rapidly exchanges between secretory granules and cytosol in PC12 cells

Biochemical and biophysical research communications, 2008-08, Vol.373 (2), p.275-281

2008

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A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton

Disease models & mechanisms, 2014-06, Vol.7 (6), p.711-722

2014

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Re-architecting datacenter networks and stacks for low latency and high performance

Proceedings of the Conference of the ACM Special Interest Group on Data Communication, 2017, p.29-42

2017

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Delay is Not an Option: Low Latency Routing in Space

Proceedings of the 17th ACM Workshop on Hot Topics in Networks, 2018, p.85-91

Handley, Mark

2018

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Control of Multipath TCP and Optimization of Multipath Routing in the Internet

Network Control and Optimization, 2009, p.204-218

2009

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Insulin-like growth factor binding protein-5 is a target of matrix metalloproteinase-7 : Implications for epithelial-mesenchymal signaling

Cancer research (Chicago, Ill.), 2005-08, Vol.65 (16), p.7363-7369

2005

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Using ground relays for low-latency wide-area routing in megaconstellations

Proceedings of the 18th ACM Workshop on Hot Topics in Networks, 2019, p.125-132

Handley, Mark

2019

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Bad Packets Come Back, Worse Ones Don't

Proceedings of the ACM SIGCOMM 2024 Conference, 2024, p.311-326

2024

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Structural and functional deficits in a neuronal calcium sensor-1 mutant identified in a case of autistic spectrum disorder

Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

Rab18 and a Rab18 GEF complex are required for normal ER structure

Disease-associated inosine misincorporation into RNA hinders translation

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

Inosine triphosphate pyrophosphatase: A guardian of the cellular nucleotide pool and potential mediator of RNA function

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

Differential dynamics of Rab3A and Rab27A on secretory granules

RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins

Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis

A gain-of-function mutant of Munc18-1 stimulates secretory granule recruitment and exocytosis and reveals a direct interaction of Munc18-1 with Rab3

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

The Functions of Munc18-1 in Regulated Exocytosis

Network stack specialization for performance

The Rab27 effector Rabphilin, unlike Granuphilin and Noc2, rapidly exchanges between secretory granules and cytosol in PC12 cells

A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton

Re-architecting datacenter networks and stacks for low latency and high performance

Delay is Not an Option: Low Latency Routing in Space

Control of Multipath TCP and Optimization of Multipath Routing in the Internet

Insulin-like growth factor binding protein-5 is a target of matrix metalloproteinase-7 : Implications for epithelial-mesenchymal signaling

Using ground relays for low-latency wide-area routing in megaconstellations

Bad Packets Come Back, Worse Ones Don't

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