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Phenotype, diagnosis, and treatment of Gaucher's disease

The Lancet (British edition), 2008-10, Vol.372 (9645), p.1263-1271

Grabowski, Gregory A, Dr

2008

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Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies

Cell, 2011-07, Vol.146 (1), p.37-52

2011

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Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry

American journal of hematology, 2015-07, Vol.90 (S1), p.S12-S18

2015

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Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease

Nature (London), 2017-03, Vol.543 (7643), p.108-112

2017

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Gaucher disease: Basic and translational science needs for more complete therapy and management

Molecular genetics and metabolism, 2021-02, Vol.132 (2), p.59-75

2021

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Discrete mechanisms of mTOR and cell cycle regulation by AMPK agonists independent of AMPK

Proceedings of the National Academy of Sciences - PNAS, 2014-01, Vol.111 (4), p.1235-1235

2014

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Overview of Inflammation in Neurometabolic Diseases

Seminars in pediatric neurology, 2017-08, Vol.24 (3), p.207-213

Grabowski, Gregory A.

2017

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Multi-system disorders of glycosphingolipid and ganglioside metabolism

Journal of lipid research, 2010-07, Vol.51 (7), p.1643-1675

2010

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CNS-accessible Inhibitor of Glucosylceramide Synthase for Substrate Reduction Therapy of Neuronopathic Gaucher Disease

Molecular therapy, 2016-06, Vol.24 (6), p.1019-1029

2016

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CNS expression of glucocerebrosidase corrects α-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy

Proceedings of the National Academy of Sciences - PNAS, 2011-07, Vol.108 (29), p.12101-12106

2011

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Lysosomal Storage Disease 1 Phenotype, diagnosis, and treatment of Gaucher's disease

The Lancet (British edition), 2008-10, Vol.372 (9645), p.1263-1271

GRABOWSKI, Gregory A

2008

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Extracellular Lipids Accumulate in Human Carotid Arteries as Distinct Three-Dimensional Structures and Have Proinflammatory Properties

The American journal of pathology, 2018-02, Vol.188 (2), p.525-538

2018

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Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology

PloS one, 2015-03, Vol.10 (3), p.e0118771-e0118771

2015

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Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice

Human molecular genetics, 2014-08, Vol.23 (15), p.3943-3957

2014

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Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease

Autophagy, 2010-07, Vol.6 (5), p.648-649

2010

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Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease

PloS one, 2016-09, Vol.11 (9), p.e0162367-e0162367

2016

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Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse

PloS one, 2011-04, Vol.6 (4), p.e19037-e19037

2011

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Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease

PloS one, 2013-03, Vol.8 (3), p.e57560

2013

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Systemic enzyme delivery by blood-brain barrier-penetrating SapC-DOPS nanovesicles for treatment of neuronopathic Gaucher disease

EBioMedicine, 2020-05, Vol.55, p.102735, Article 102735

2020

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Ubiquitous transgene expression of the glucosylceramide-synthesizing enzyme accelerates glucosylceramide accumulation and storage cells in a Gaucher disease mouse model

PloS one, 2014-12, Vol.9 (12), p.e116023-e116023

2014

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Therapeutic goals in the treatment of Gaucher disease

Seminars in hematology, 2004-10, Vol.41 (4 Suppl 5), p.4-14

2004

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Activation of p38 Mitogen-Activated Protein Kinase in Gaucher's Disease

PloS one, 2015-08, Vol.10 (8), p.e0136633-e0136633

2015

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Taliglucerase alfa: An enzyme replacement therapy using plant cell expression technology

Molecular genetics and metabolism, 2014-05, Vol.112 (1), p.1-8

2014

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Spiral ganglion degeneration and hearing loss as a consequence of satellite cell death in saposin B-deficient mice

The Journal of neuroscience, 2015-02, Vol.35 (7), p.3263-3275

2015

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Association Between Progranulin and Gaucher Disease

EBioMedicine, 2016-09, Vol.11 (C), p.127-137

2016

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Phenotype, diagnosis, and treatment of Gaucher's disease

Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies

Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry

Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease

Gaucher disease: Basic and translational science needs for more complete therapy and management

Discrete mechanisms of mTOR and cell cycle regulation by AMPK agonists independent of AMPK

Overview of Inflammation in Neurometabolic Diseases

Multi-system disorders of glycosphingolipid and ganglioside metabolism

CNS-accessible Inhibitor of Glucosylceramide Synthase for Substrate Reduction Therapy of Neuronopathic Gaucher Disease

CNS expression of glucocerebrosidase corrects α-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy

Lysosomal Storage Disease 1 Phenotype, diagnosis, and treatment of Gaucher's disease

Extracellular Lipids Accumulate in Human Carotid Arteries as Distinct Three-Dimensional Structures and Have Proinflammatory Properties

Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology

Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice

Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease

Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease

Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse

Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease

Systemic enzyme delivery by blood-brain barrier-penetrating SapC-DOPS nanovesicles for treatment of neuronopathic Gaucher disease

Ubiquitous transgene expression of the glucosylceramide-synthesizing enzyme accelerates glucosylceramide accumulation and storage cells in a Gaucher disease mouse model

Therapeutic goals in the treatment of Gaucher disease

Activation of p38 Mitogen-Activated Protein Kinase in Gaucher's Disease

Taliglucerase alfa: An enzyme replacement therapy using plant cell expression technology

Spiral ganglion degeneration and hearing loss as a consequence of satellite cell death in saposin B-deficient mice

Association Between Progranulin and Gaucher Disease

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