Globoid Cell Leukodystrophy (Krabbe Disease): An Update
Azzam A Maghazachi Research Department, ImmnoProfiling and Boosting, Oslo, NorwayCorrespondence: Azzam A Maghazachi, Research Department, ImmunoProfiling and Boosting (IPAB), Oslo, Norway, Email azzammaghazachi2016@gmail.comAbstract: Globoid cell leukodystrophy or Krabbe is a disease that affects ch...
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| Format: | Article |
| Language: | English |
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Dove Medical Press
2023-10-01
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| Series: | ImmunoTargets and Therapy |
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| Online Access: | https://www.dovepress.com/globoid-cell-leukodystrophy-krabbe-disease-an-update-peer-reviewed-fulltext-article-ITT |
| _version_ | 1797643720651177984 |
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| author | Maghazachi AA |
| author_facet | Maghazachi AA |
| author_sort | Maghazachi AA |
| collection | DOAJ |
| description | Azzam A Maghazachi Research Department, ImmnoProfiling and Boosting, Oslo, NorwayCorrespondence: Azzam A Maghazachi, Research Department, ImmunoProfiling and Boosting (IPAB), Oslo, Norway, Email azzammaghazachi2016@gmail.comAbstract: Globoid cell leukodystrophy or Krabbe is a disease that affects children as well as adults who have mutations in the gene encoding the enzyme galactosylceramidase/galctocerebrosidase (GALC), resulting in the deposition of the toxic lipid D-galactosyl-beta1-1’ sphingosine (GalSph or psychosine). Several therapeutic modalities were used to treat patients with Krabbe disease, including hematopoietic stem cell transplantation, enzyme replacement therapy, autophagy activators, intravenous immunoglobulin, and inhibitors of the Pyroptosis process, among many other approaches. In this article, I will briefly discuss the disease in both human and animal model, describe recent clinical observations as well as methods utilizing genetic analysis for diagnosis, and finally review recent advances in treating this rare and devastating disease.Keywords: Krabbe disease, globoid cell leukodystrophy, twitcher mice, GALC, treatment, diagnosis, genetics, cancer |
| first_indexed | 2024-03-11T14:20:07Z |
| format | Article |
| id | doaj.art-237748553a7e4b23bad9de4eb757434c |
| institution | Directory Open Access Journal |
| issn | 2253-1556 |
| language | English |
| last_indexed | 2024-03-11T14:20:07Z |
| publishDate | 2023-10-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | ImmunoTargets and Therapy |
| spelling | doaj.art-237748553a7e4b23bad9de4eb757434c2023-10-31T17:33:54ZengDove Medical PressImmunoTargets and Therapy2253-15562023-10-01Volume 1210511187735Globoid Cell Leukodystrophy (Krabbe Disease): An UpdateMaghazachi AAAzzam A Maghazachi Research Department, ImmnoProfiling and Boosting, Oslo, NorwayCorrespondence: Azzam A Maghazachi, Research Department, ImmunoProfiling and Boosting (IPAB), Oslo, Norway, Email azzammaghazachi2016@gmail.comAbstract: Globoid cell leukodystrophy or Krabbe is a disease that affects children as well as adults who have mutations in the gene encoding the enzyme galactosylceramidase/galctocerebrosidase (GALC), resulting in the deposition of the toxic lipid D-galactosyl-beta1-1’ sphingosine (GalSph or psychosine). Several therapeutic modalities were used to treat patients with Krabbe disease, including hematopoietic stem cell transplantation, enzyme replacement therapy, autophagy activators, intravenous immunoglobulin, and inhibitors of the Pyroptosis process, among many other approaches. In this article, I will briefly discuss the disease in both human and animal model, describe recent clinical observations as well as methods utilizing genetic analysis for diagnosis, and finally review recent advances in treating this rare and devastating disease.Keywords: Krabbe disease, globoid cell leukodystrophy, twitcher mice, GALC, treatment, diagnosis, genetics, cancerhttps://www.dovepress.com/globoid-cell-leukodystrophy-krabbe-disease-an-update-peer-reviewed-fulltext-article-ITTkrabbe diseasegloboid cell leukodystrophytwitcher micegalctreatmentdiagnosisgeneticscancer |
| spellingShingle | Maghazachi AA Globoid Cell Leukodystrophy (Krabbe Disease): An Update ImmunoTargets and Therapy krabbe disease globoid cell leukodystrophy twitcher mice galc treatment diagnosis genetics cancer |
| title | Globoid Cell Leukodystrophy (Krabbe Disease): An Update |
| title_full | Globoid Cell Leukodystrophy (Krabbe Disease): An Update |
| title_fullStr | Globoid Cell Leukodystrophy (Krabbe Disease): An Update |
| title_full_unstemmed | Globoid Cell Leukodystrophy (Krabbe Disease): An Update |
| title_short | Globoid Cell Leukodystrophy (Krabbe Disease): An Update |
| title_sort | globoid cell leukodystrophy krabbe disease an update |
| topic | krabbe disease globoid cell leukodystrophy twitcher mice galc treatment diagnosis genetics cancer |
| url | https://www.dovepress.com/globoid-cell-leukodystrophy-krabbe-disease-an-update-peer-reviewed-fulltext-article-ITT |
| work_keys_str_mv | AT maghazachiaa globoidcellleukodystrophykrabbediseaseanupdate |