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Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells

Scientific reports, 2023-12, Vol.13 (1), p.22392-22392, Article 22392

2023

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Targeting AGAT gene expression - a drug screening approach for the treatment of GAMT deficiency

Expert opinion on drug discovery, 2024-11, Vol.19 (11), p.1-1397

2024

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Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease

The Journal of biological chemistry, 2009-08, Vol.284 (35), p.23502-23516

2009

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Rapid Assembly of a Library of Lipophilic Iminosugars via the Thiol–Ene Reaction Yields Promising Pharmacological Chaperones for the Treatment of Gaucher Disease

Journal of medicinal chemistry, 2012-03, Vol.55 (6), p.2737-2745

2012

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Remote cardioprotection by direct peripheral nerve stimulation and topical capsaicin is mediated by circulating humoral factors

Basic research in cardiology, 2012-03, Vol.107 (2), p.241-10, Article 241

2012

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Transient limb ischaemia remotely preconditions through a humoral mechanism acting directly on the myocardium: evidence suggesting cross-species protection

Clinical science (1979), 2009-08, Vol.117 (5), p.191-200

2009

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Lending a helping hand, screening chemical libraries for compounds that enhance β-hexosaminidase A activity in GM2 gangliosidosis cells

The FEBS journal, 2007-10, Vol.274 (19), p.4951-4961

2007

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Remote preconditioning provides potent cardioprotection via PI3K/Akt activation and is associated with nuclear accumulation of β-catenin

Clinical science (1979), 2011-05, Vol.120 (10), p.451-462

2011

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Transcutaneous electrical nerve stimulation as a novel method of remote preconditioning: in vitro validation in an animal model and first human observations

Basic research in cardiology, 2014-05, Vol.109 (3), p.406-406, Article 406

2014

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Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease

Human gene therapy, 2016-07, Vol.27 (7), p.509-521

2016

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Synthesis, Kinetic Evaluation and Cell-Based Analysis of C-Alkylated Isofagomines as Chaperones of β-Glucocerebrosidase

Chembiochem : a European journal of chemical biology, 2011-09, Vol.12 (14), p.2151-2154

2011

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Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients

The Journal of biological chemistry, 2004-04, Vol.279 (14), p.13478-13487

2004

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Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: Evidence that N370S is a folding mutant

Molecular genetics and metabolism, 2012-07, Vol.106 (3), p.323-329

2012

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Synthesis of 1,5-Dideoxy-1,5-iminoribitol C‑Glycosides through a Nitrone–Olefin Cycloaddition Domino Strategy: Identification of Pharmacological Chaperones of Mutant Human Lysosomal β‑Galactosidase

Journal of organic chemistry, 2014-05, Vol.79 (10), p.4398-4404

2014

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Tailoring the Specificity and Reactivity of a Mechanism-Based Inactivator of Glucocerebrosidase for Potential Therapeutic Applications

Angewandte Chemie International Edition, 2011-10, Vol.50 (44), p.10381-10383

International ed. in English, 2011

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Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy

Molecular genetics and metabolism, 2012-09, Vol.107 (1-2), p.203-212

2012

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TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy

PloS one, 2014-10, Vol.9 (10), p.e109128

2014

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An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)

Molecular genetics and metabolism, 2011-01, Vol.102 (1), p.6-12

2011

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Isofagomine Induced Stabilization of Glucocerebrosidase

Chembiochem : a European journal of chemical biology, 2008-11, Vol.9 (16), p.2643-2649

2008

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Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo

Molecular therapy. Methods & clinical development, 2016-01, Vol.3 (C), p.15057-15057, Article 15057

2016

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The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported

Pediatrics (Evanston), 2006-11, Vol.118 (5), p.e1550-e1562

2006

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Pyrimethamine as a Potential Pharmacological Chaperone for Late-onset Forms of GM2 Gangliosidosis

The Journal of biological chemistry, 2007-03, Vol.282 (12), p.9150-9161

2007

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Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants

Glycobiology (Oxford), 2012-04, Vol.22 (4), p.492-503

2012

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Remote Cardioprotection by Transfer of Coronary Effluent from Ischemic Preconditioned Rabbit Heart Preserves Mitochondrial Integrity and Function via Adenosine Receptor Activation

Cardiovascular drugs and therapy, 2014-02, Vol.28 (1), p.7-17

2014

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Fluorous Iminoalditols: A New Family of Glycosidase Inhibitors and Pharmacological Chaperones

Chembiochem : a European journal of chemical biology, 2010-09, Vol.11 (14), p.2026-2033

2010

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Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells

Targeting AGAT gene expression - a drug screening approach for the treatment of GAMT deficiency

Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease

Rapid Assembly of a Library of Lipophilic Iminosugars via the Thiol–Ene Reaction Yields Promising Pharmacological Chaperones for the Treatment of Gaucher Disease

Remote cardioprotection by direct peripheral nerve stimulation and topical capsaicin is mediated by circulating humoral factors

Transient limb ischaemia remotely preconditions through a humoral mechanism acting directly on the myocardium: evidence suggesting cross-species protection

Lending a helping hand, screening chemical libraries for compounds that enhance β-hexosaminidase A activity in GM2 gangliosidosis cells

Remote preconditioning provides potent cardioprotection via PI3K/Akt activation and is associated with nuclear accumulation of β-catenin

Transcutaneous electrical nerve stimulation as a novel method of remote preconditioning: in vitro validation in an animal model and first human observations

Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease

Synthesis, Kinetic Evaluation and Cell-Based Analysis of C-Alkylated Isofagomines as Chaperones of β-Glucocerebrosidase

Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients

Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: Evidence that N370S is a folding mutant

Synthesis of 1,5-Dideoxy-1,5-iminoribitol C‑Glycosides through a Nitrone–Olefin Cycloaddition Domino Strategy: Identification of Pharmacological Chaperones of Mutant Human Lysosomal β‑Galactosidase

Tailoring the Specificity and Reactivity of a Mechanism-Based Inactivator of Glucocerebrosidase for Potential Therapeutic Applications

Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy

TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)

Isofagomine Induced Stabilization of Glucocerebrosidase

Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo

The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported

Pyrimethamine as a Potential Pharmacological Chaperone for Late-onset Forms of GM2 Gangliosidosis

Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants

Remote Cardioprotection by Transfer of Coronary Effluent from Ischemic Preconditioned Rabbit Heart Preserves Mitochondrial Integrity and Function via Adenosine Receptor Activation

Fluorous Iminoalditols: A New Family of Glycosidase Inhibitors and Pharmacological Chaperones

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