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Towards a better understanding and new therapeutics of osteopetrosis.

Askmyr, Maria K; Fasth, Anders and Richter, Johan LU (2008) In British Journal of Haematology 140(6). p.597-609
Abstract
Lack of or dysfunction in osteoclasts result in osteopetrosis, a group of rare but often severe, genetic disorders affecting skeletal tissue. Increase in bone mass results in skeletal malformation and bone marrow failure that may be fatal. Many of the underlying defects have lately been characterized in humans and in animal models of the disease. In humans, these defects often involve mutations in genes expressing proteins involved in the acidification of the osteoclast resorption compartment, a process necessary for proper bone degradation. So far, the only cure for children with severe osteopetrosis is allogeneic hematopoietic stem cell (HSC) transplantation but without a matching donor this form of therapy is far from optimal. The... (More)
Lack of or dysfunction in osteoclasts result in osteopetrosis, a group of rare but often severe, genetic disorders affecting skeletal tissue. Increase in bone mass results in skeletal malformation and bone marrow failure that may be fatal. Many of the underlying defects have lately been characterized in humans and in animal models of the disease. In humans, these defects often involve mutations in genes expressing proteins involved in the acidification of the osteoclast resorption compartment, a process necessary for proper bone degradation. So far, the only cure for children with severe osteopetrosis is allogeneic hematopoietic stem cell (HSC) transplantation but without a matching donor this form of therapy is far from optimal. The characterization of the genetic defects opens up the possibility for gene replacement therapy as an alternative. Accordingly, HSC-targeted gene therapy in a mouse model of infantile malignant osteopetrosis was recently shown to correct many aspects of the disease. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
British Journal of Haematology
volume
140
issue
6
pages
597 - 609
publisher
Federation of European Neuroscience Societies and Blackwell Publishing Ltd
external identifiers
  • pmid:18241253
  • wos:000253505100001
  • scopus:39749176662
ISSN
0007-1048
DOI
10.1111/j.1365-2141.2008.06983.x
language
English
LU publication?
yes
id
34581068-e6bd-497c-abe8-d370c987e6dc (old id 1042360)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/18241253?dopt=Abstract
date added to LUP
2008-03-03 13:16:02
date last changed
2017-06-25 04:35:36
@article{34581068-e6bd-497c-abe8-d370c987e6dc,
  abstract     = {Lack of or dysfunction in osteoclasts result in osteopetrosis, a group of rare but often severe, genetic disorders affecting skeletal tissue. Increase in bone mass results in skeletal malformation and bone marrow failure that may be fatal. Many of the underlying defects have lately been characterized in humans and in animal models of the disease. In humans, these defects often involve mutations in genes expressing proteins involved in the acidification of the osteoclast resorption compartment, a process necessary for proper bone degradation. So far, the only cure for children with severe osteopetrosis is allogeneic hematopoietic stem cell (HSC) transplantation but without a matching donor this form of therapy is far from optimal. The characterization of the genetic defects opens up the possibility for gene replacement therapy as an alternative. Accordingly, HSC-targeted gene therapy in a mouse model of infantile malignant osteopetrosis was recently shown to correct many aspects of the disease.},
  author       = {Askmyr, Maria K and Fasth, Anders and Richter, Johan},
  issn         = {0007-1048},
  language     = {eng},
  number       = {6},
  pages        = {597--609},
  publisher    = {Federation of European Neuroscience Societies and Blackwell Publishing Ltd},
  series       = {British Journal of Haematology},
  title        = {Towards a better understanding and new therapeutics of osteopetrosis.},
  url          = {http://dx.doi.org/10.1111/j.1365-2141.2008.06983.x},
  volume       = {140},
  year         = {2008},
}