Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies
- J. Mazzulli, You-hai Xu, D. Krainc
- BiologyCell
- 1 July 2011
Phenotype, diagnosis, and treatment of Gaucher's disease
- G. Grabowski
- Medicine, BiologyThe Lancet
- 4 October 2008
Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy
- R. Desnick, R. Brady, W. Wilcox
- MedicineAnnals of Internal Medicine
- 18 February 2003
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.
Enzyme Therapy in Type 1 Gaucher Disease: Comparative Efficacy of Mannose-Terminated Glucocerebrosidase from Natural and Recombinant Sources
- G. Grabowski, N. Barton, R. Brady
- Medicine, BiologyAnnals of Internal Medicine
- 1995
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.
Therapeutic goals in the treatment of Gaucher disease.
- G. Pastores, N. Weinreb, A. Tylki-Szymańska
- MedicineSeminars in hematology (Print)
- 1 October 2004
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.
Editing of CD1d-Bound Lipid Antigens by Endosomal Lipid Transfer Proteins
- Dapeng Zhou, C. Cantu, L. Teyton
- Biology, ChemistryScience
- 23 January 2004
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.
Acid β‐glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α‐synuclein processing
- Valerie C. Cullen, S. Sardi, M. Schlossmacher
- BiologyAnnals of Neurology
- 1 June 2011
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.
Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA
- Takuji Suzuki, T. Sakagami, B. Trapnell
- Biology, MedicineJournal of Experimental Medicine
- 24 November 2008
It is established that GM-CSF signaling is critical for surfactant homeostasis in humans and demonstrated that mutations in CSF2RA cause familial PAP.
CNS expression of glucocerebrosidase corrects α-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy
- S. Sardi, J. Clarke, L. Shihabuddin
- BiologyProceedings of the National Academy of Sciences
- 5 July 2011
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.
Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span.
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.
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