G. Grabowski

Publications376
h-index58
Citations12,163
Highly Influential Citations475
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Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies
Parkinson's disease (PD), an adult neurodegenerative disorder, has been clinically linked to the lysosomal storage disorder Gaucher disease (GD), but the mechanistic connection is not known. Here, we… Expand
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Phenotype, diagnosis, and treatment of Gaucher's disease
Gaucher's disease continues to be a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment. Analyses of several thousand affected individuals have broadened… Expand
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Therapeutic goals in the treatment of Gaucher disease.
Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous multisystem condition. Patients with non-neuronopathic (type 1) Gaucher disease may suffer from hepatomegaly,… Expand
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Enzyme Therapy in Type 1 Gaucher Disease: Comparative Efficacy of Mannose-Terminated Glucocerebrosidase from Natural and Recombinant Sources
Gaucher disease, an inborn error of glycosphingolipid metabolism, is the most frequent lysosomal storage disease [1]. Non-neuronopathic or type 1 disease is the most common variant and the most… Expand
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Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA
Primary pulmonary alveolar proteinosis (PAP) is a rare syndrome characterized by accumulation of surfactant in the lungs that is presumed to be mediated by disruption of granulocyte/macrophage… Expand
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Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span.
Lysosomal acid lipase (LAL) is essential for the hydrolysis of triglycerides (TG) and cholesteryl esters (CE) in lysosomes. A mouse model created by gene targeting produces no LAL mRNA, protein, or… Expand
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Editing of CD1d-Bound Lipid Antigens by Endosomal Lipid Transfer Proteins
It is now established that CD1 molecules present lipid antigens to T cells, although it is not clear how the exchange of lipids between membrane compartments and the CD1 binding groove is assisted.… Expand
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Acid β‐glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α‐synuclein processing
Heterozygous mutations in the GBA1 gene elevate the risk of Parkinson disease and dementia with Lewy bodies; both disorders are characterized by misprocessing of α‐synuclein (SNCA). A loss in… Expand
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Discrete mechanisms of mTOR and cell cycle regulation by AMPK agonists independent of AMPK
Significance Cancer cells reprogram their metabolism for optimal growth and survival. AMPK-activated protein kinase (AMPK) is a key energy sensor that controls many metabolic pathways including… Expand
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Gaucher disease: gene frequencies and genotype/phenotype correlations.
Gaucher disease is the most prevalent lysosomal storage disease and has its highest incidence in the Ashkenazi Jewish population. Over 100 mutant alleles have been identified in affected patients,… Expand
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