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Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies
TLDR
It is shown that functional loss of GD-linked glucocerebrosidase in primary cultures or human iPS neurons compromises lysosomal protein degradation, causes accumulation of α-synuclein (α-syn), and results in neurotoxicity through aggregation-dependent mechanisms, suggesting that GCase depletion contributes to the pathogenesis of sporadic synucleinopathies. Expand
Phenotype, diagnosis, and treatment of Gaucher's disease
TLDR
The ability to safely and effectively use enzyme therapy to inhibit or reverse visceral-disease progression and involvement has provided impetus for design of new enzyme therapies, and creation of substrate depletion and pharmacological chaperone strategies. Expand
Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy
TLDR
Recently, enzyme replacement with human -Gal A has been shown to safely reverse the pathogenesis of the major clinical manifestations, to decrease pain, and to stabilize renal function in patients with Fabry disease, and the European Agency for the Evaluation of Medicinal Products has approved the treatment and the U.S. Food and Drug Administration is currently reviewing it. Expand
Therapeutic goals in the treatment of Gaucher disease.
TLDR
Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous multisystem condition and an evidence-based consensus on contemporary therapeutic goals is obtained to arrive at a comprehensive guide to individualized management. Expand
Enzyme Therapy in Type 1 Gaucher Disease: Comparative Efficacy of Mannose-Terminated Glucocerebrosidase from Natural and Recombinant Sources
TLDR
To determine the efficacy of recombinant glucocerebrosidase, a randomized, double-blind, parallel trial with mannose-terminated glu cocerebosidase (alglucerase, Ceredase) from human placenta and the human enzyme that is produced in Chinese hamster ovary cells and deglycosylated to expose mannosed residues in the oligosaccharide chains was done. Expand
Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA
TLDR
It is established that GM-CSF signaling is critical for surfactant homeostasis in humans and demonstrated that mutations in CSF2RA cause familial PAP. Expand
Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span.
TLDR
The involvement of macrophages throughout the body of lal-/- mice provide evidence for a critical nonappreciated role of LAL in cellular cholesterol and fatty acid metabolism, adipocyte differentiation, and fat mobilization. Expand
Editing of CD1d-Bound Lipid Antigens by Endosomal Lipid Transfer Proteins
TLDR
Mice deficient in prosaposin, the precursor to a family of endosomal lipid transfer proteins (LTP), exhibit specific defects in CD1d-mediated antigen presentation and lack Vα14 NKT cells, which constitute a previously unknown link between lipid metabolism and immunity. Expand
Acid β‐glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α‐synuclein processing
TLDR
Mechanisms for the GBA1 gene's association with increased synucleinopathy risk are explored and a loss in lysosomal acid–β‐glucosidase enzyme activity underlies Gaucher disease. Expand
CNS expression of glucocerebrosidase corrects α-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy
TLDR
Evidence is provided that a mouse model of Gaucher disease exhibits characteristics of synucleinopathies, including progressive accumulation of proteinase K-resistant α-synuclein/ubiquitin aggregates in hippocampal neurons and a coincident memory deficit, and that rescuing brain glucocerebrosidase activity might represent a therapeutic strategy for GBA1-associated synucle inopathies. Expand
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