[HTML][HTML] Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies
…, PJ McLean, GA Caldwell, E Sidransky, GA Grabowski… - Cell, 2011 - cell.com
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 …
to the lysosomal storage disorder Gaucher disease (GD), but the mechanistic connection is …
Phenotype, diagnosis, and treatment of Gaucher's disease
GA Grabowski - The Lancet, 2008 - thelancet.com
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 …
delineation, diagnosis, and treatment. Analyses of several thousand affected individuals …
Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy
…, DP Germain, M Goldman, G Grabowski… - Annals of internal …, 2003 - acpjournals.org
Fabry disease (-galactosidase A deficiency) is an X-linked recessive lysosomal storage
disorder. Although the disease presents in childhood and culminates in cardiac, cerebrovascular…
disorder. Although the disease presents in childhood and culminates in cardiac, cerebrovascular…
Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources
GA Grabowski, NW Barton, G Pastores… - Annals of internal …, 1995 - acpjournals.org
Objective: To compare the efficacy of mannose-terminated glucocerebrosidase prepared
from natural (alglucerase; Ceredase, Genzyme Corp., Cambridge, Massachusetts) and …
from natural (alglucerase; Ceredase, Genzyme Corp., Cambridge, Massachusetts) and …
Therapeutic goals in the treatment of Gaucher disease
…, G Andria, TM Cox, M Giralt, GA Grabowski… - Seminars in …, 2004 - Elsevier
Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous multisystem
condition. Patients with non-neuronopathic (type 1) Gaucher disease may suffer from …
condition. Patients with non-neuronopathic (type 1) Gaucher disease may suffer from …
An in vivo model of human small intestine using pluripotent stem cells
…, JE Vallance, CN Mayhew, Y Sun, G Grabowski… - Nature medicine, 2014 - nature.com
Differentiation of human pluripotent stem cells (hPSCs) into organ-specific subtypes offers
an exciting avenue for the study of embryonic development and disease processes, for …
an exciting avenue for the study of embryonic development and disease processes, for …
Acid β‐glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α‐synuclein processing
…, MA Glicksman, SH Cheng, GA Grabowski… - Annals of …, 2011 - Wiley Online Library
Objective: 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‐…
and dementia with Lewy bodies; both disorders are characterized by misprocessing of α‐…
Editing of CD1d-bound lipid antigens by endosomal lipid transfer proteins
…, X Qi, DJ Mahuran, CR Morales, GA Grabowski… - Science, 2004 - science.org
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 …
clear how the exchange of lipids between membrane compartments and the CD1 binding …
CNS expression of glucocerebrosidase corrects α-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy
…, MA Passini, GA Grabowski… - Proceedings of the …, 2011 - National Acad Sciences
Emerging genetic and clinical evidence suggests a link between Gaucher disease and the
synucleinopathies Parkinson disease and dementia with Lewy bodies. Here, we provide …
synucleinopathies Parkinson disease and dementia with Lewy bodies. Here, we provide …
Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA
…, SE Wert, JA Whitsett, G Grabowski… - The Journal of …, 2008 - rupress.org
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/…
of surfactant in the lungs that is presumed to be mediated by disruption of granulocyte/…