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Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

The Journal of physiology, 2010-06, Vol.588, p.1841-1848

2010

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Pathogenic mutations in UBQLN2 exhibit diverse aggregation propensity and neurotoxicity

Scientific reports, 2024-03, Vol.14 (1), p.6049-6049, Article 6049

2024

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Wild-type and pathogenic forms of ubiquilin 2 differentially modulate components of the autophagy-lysosome pathways

Journal of pharmacological sciences, 2023-07, Vol.152 (3), p.182-192

2023

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Mutant UBQLN2 promotes toxicity by modulating intrinsic self-assembly

Proceedings of the National Academy of Sciences - PNAS, 2018-10, Vol.115 (44), p.E10495-E10504

2018

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Modeling UBQLN2-mediated neurodegenerative disease in mice: Shared and divergent properties of wild type and mutant UBQLN2 in phase separation, subcellular localization, altered proteostasis pathways, and selective cytotoxicity

Neurobiology of disease, 2020-09, Vol.143, p.105016-105016, Article 105016

2020

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Ubiquilin-2 regulates pathological alpha-synuclein

Scientific reports, 2023-01, Vol.13 (1), p.293-14, Article 293

2023

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Shared and divergent phase separation and aggregation properties of brain-expressed ubiquilins

Scientific reports, 2021-01, Vol.11 (1), p.287-13, Article 287

2021

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Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav 1.6) in a mouse mutant with a chronic movement disorder

Neurobiology of disease, 2016-05, Vol.89, p.36-45

2016

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Clinical Utility of 18Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography (18F-FDG PET/CT) in Multivisceral Transplant Patients

Journal of imaging, 2023-06, Vol.9 (6), p.114

2023

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Imaging proteolytic activity in live cells and animal models

PloS one, 2013-06, Vol.8 (6), p.e66248-e66248

2013

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Intestinal transplantation: an update

Current opinion in gastroenterology, 2023-05, Vol.39 (3), p.242

2023

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Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

The Journal of physiology, 2010-06, Vol.588 (11), p.1841-1848

2010

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Receptor subtype-dependent galanin actions on gamma-aminobutyric acidergic neurotransmission and ethanol responses in the central amygdala

Addiction biology, 2012-07, Vol.17 (4), p.694-705

2012

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Disrupting the Balance of Protein Quality Control Protein UBQLN2 Accelerates Tau Proteinopathy

The Journal of neuroscience, 2022-03, Vol.42 (9), p.1845-1863

2022

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Fatal breakthrough mucormycosis in a multivisceral transplant patient receiving micafungin: Case report and literature review

IDCases, 2018-01, Vol.12, p.76-79

2018

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Ubiquilin-2 differentially regulates polyglutamine disease proteins

Human molecular genetics, 2020-08, Vol.29 (15), p.2596-2610

2020

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RTL8 promotes nuclear localization of UBQLN2 to subnuclear compartments associated with protein quality control

Cellular and molecular life sciences : CMLS, 2022-03, Vol.79 (3), p.176-176, Article 176

2022

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Galanin Alters GABAergic Neurotransmission in the Dorsal Raphe Nucleus

Neurochemical research, 2008-02, Vol.33 (2), p.285-291

2008

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Risk Factors Associated with PTLD Related Mortality in Adult Multivisceral Transplant Recipients - A Single Centre Cohort Study

Chirurgia (Bucharest, Romania : 1990), 2024-01, Vol.119 (1), p.5-20

2024

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Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice

Human molecular genetics, 2009-05, Vol.18 (9), p.1633-1641

2009

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Endoplasmic Reticulum Stress Is Implicated in Intestinal Failure–Associated Liver Disease

JPEN. Journal of parenteral and enteral nutrition, 2016-03, Vol.40 (3), p.431-436

2016

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Clinical Utility of [sup.18]Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography in Multivisceral Transplant Patients

Journal of imaging, 2023-06, Vol.9 (6)

2023

Volltextzugriff (PDF)

Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Na sub(v)1.6) in a mouse mutant with a chronic movement disorder

Neurobiology of disease, 2016-05, Vol.89, p.36-45

2016

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Graft versus host disease after multivisceral transplantation: A UK center experience and update on management

Clinical transplantation, 2018-05, Vol.32 (5), p.e13239-n/a

2018

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Urgent Multivisceral Transplantation for Widespread Splanchnic Ischemia

Journal of the American College of Surgeons, 2016-05, Vol.222 (5), p.760-765

2016

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Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

Pathogenic mutations in UBQLN2 exhibit diverse aggregation propensity and neurotoxicity

Wild-type and pathogenic forms of ubiquilin 2 differentially modulate components of the autophagy-lysosome pathways

Mutant UBQLN2 promotes toxicity by modulating intrinsic self-assembly

Modeling UBQLN2-mediated neurodegenerative disease in mice: Shared and divergent properties of wild type and mutant UBQLN2 in phase separation, subcellular localization, altered proteostasis pathways, and selective cytotoxicity

Ubiquilin-2 regulates pathological alpha-synuclein

Shared and divergent phase separation and aggregation properties of brain-expressed ubiquilins

Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav 1.6) in a mouse mutant with a chronic movement disorder

Clinical Utility of 18Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography (18F-FDG PET/CT) in Multivisceral Transplant Patients

Imaging proteolytic activity in live cells and animal models

Intestinal transplantation: an update

Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

Receptor subtype-dependent galanin actions on gamma-aminobutyric acidergic neurotransmission and ethanol responses in the central amygdala

Disrupting the Balance of Protein Quality Control Protein UBQLN2 Accelerates Tau Proteinopathy

Fatal breakthrough mucormycosis in a multivisceral transplant patient receiving micafungin: Case report and literature review

Ubiquilin-2 differentially regulates polyglutamine disease proteins

RTL8 promotes nuclear localization of UBQLN2 to subnuclear compartments associated with protein quality control

Galanin Alters GABAergic Neurotransmission in the Dorsal Raphe Nucleus

Risk Factors Associated with PTLD Related Mortality in Adult Multivisceral Transplant Recipients - A Single Centre Cohort Study

Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice

Endoplasmic Reticulum Stress Is Implicated in Intestinal Failure–Associated Liver Disease

Clinical Utility of [sup.18]Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography in Multivisceral Transplant Patients

Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Na sub(v)1.6) in a mouse mutant with a chronic movement disorder

Graft versus host disease after multivisceral transplantation: A UK center experience and update on management

Urgent Multivisceral Transplantation for Widespread Splanchnic Ischemia

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