Retinal Function is Improved in a Murine Model of a Lysosomal Storage Disease Following Bone Marrow Transplantation

2000 ◽  
Vol 71 (5) ◽  
pp. 469-481 ◽  
Author(s):  
Kevin K. Ohlemiller ◽  
Carole A. Vogler ◽  
Marie Roberts ◽  
Nancy Galvin ◽  
Mark S. Sands
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Lysosomal Storage Disease ◽  
Murine Model ◽  
Marrow Transplantation ◽  
Storage Disease ◽  
Retinal Function ◽  
Lysosomal Storage

Is there a role for scintigraphic imaging of bone manifestations in Gaucher disease?

2008 ◽  
Vol 47 (06) ◽  
pp. 239-247 ◽  
Author(s):  
S. Kohlfürst ◽  
H. J. Gallowitsch ◽  
E. Kresnik ◽  
P. Lind ◽  
A. B. Mehta ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Lysosomal Storage Disease ◽  
Gaucher Disease ◽  
Storage Disease ◽  
Lysosomal Storage ◽  
Scintigraphic Imaging ◽  
Imaging Methods ◽  
X Ray ◽  
Deficient Activity

SummaryGaucher disease is the most prevalent inherited, lysosomal storage disease and is caused by deficient activity of the enzyme β-glucocerebrosidase. Bone and bone marrow alterations are frequent in the most prevalent non-neuronopathic form of Gaucher disease. Imaging of bone manifestations in Gaucher disease is performed by a variety of imaging methods, conventional X-ray and MRI as the most frequently and most important ones. However, different modalities of scintigraphic imaging have also been used. This article gives an overview on scintigraphic imaging with respect to bone manifestations in Gaucher disease discussing the advantages and limitations of scintigraphic imaging in comparison to other imaging methods.

scholarly journals Reversion of hepatobiliary alterations by bone marrow transplantation in a murine model of erythropoietic protoporphyria

Hepatology ◽  
2000 ◽  
Vol 32 (1) ◽  
pp. 73-81 ◽  
Author(s):  
Antonio Fontanellas ◽  
Frèdèric Mazurier ◽  
Marc Landry ◽  
Laurence Taine ◽  
Carine Morel ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Murine Model ◽  
Marrow Transplantation ◽  
Erythropoietic Protoporphyria

Bone Marrow Transplantation in Glycogen Storage Disease Type 1b

2008 ◽  
Vol 152 (2) ◽  
pp. 286-288 ◽  
Author(s):  
Germaine Pierre ◽  
Geothy Chakupurakal ◽  
Patrick Mckiernan ◽  
Chris Hendriksz ◽  
Sarah Lawson ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Glycogen Storage Disease ◽  
Marrow Transplantation ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type

Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation

Blood ◽  
2001 ◽  
Vol 97 (1) ◽  
pp. 327-329 ◽  
Author(s):  
Mylvaganam Jeyakumar ◽  
Francine Norflus ◽  
Cynthia J. Tifft ◽  
Mario Cortina-Borja ◽  
Terry D. Butters ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Sandhoff Disease ◽  
Lysosomal Storage ◽  
Gm2 Ganglioside ◽  
Donor Bone Marrow ◽  
The Central Nervous System ◽  
Substrate Deprivation ◽  
Hexb Gene

Abstract Sandhoff disease is a lysosomal storage disorder characterized by GM2 ganglioside accumulation in the central nervous system (CNS) and periphery. It results from mutations in the HEXB gene, causing a deficiency in β-hexosaminidase. Bone marrow transplantation (BMT), which augments enzyme levels, and substrate deprivation (using the glycosphingolipid biosynthesis inhibitor N-butyldeoxynojirimycin [NB-DNJ]) independently have been shown to extend life expectancy in a mouse model of Sandhoff disease. The efficacy of combining these 2 therapies was evaluated. Sandhoff disease mice treated with BMT and NB-DNJ survived significantly longer than those treated with BMT or NB-DNJ alone. When the mice were subdivided into 2 groups on the basis of their donor bone marrow–derived CNS enzyme levels, the high enzyme group exhibited a greater degree of synergy (25%) than the group as a whole (13%). Combination therapy may therefore be the strategy of choice for treating the infantile onset disease variants.

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