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Article: Management of adrenoleukodystrophy: From pre-clinical studies to the development of new therapies

TitleManagement of adrenoleukodystrophy: From pre-clinical studies to the development of new therapies
Authors
KeywordsX-linked adrenoleukodystrophy
ABCD1
Very long chain fatty acids
Neurodegeneration
Demyelination
Issue Date2021
PublisherElsevier: Creative Commons Licenses. The Journal's web site is located at http://www.elsevier.com/locate/biopha
Citation
Biomedicine & Pharmacotherapy, 2021, v. 143, p. article no. 112214 How to Cite?
AbstractX-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder associated with mutations of the ABCD1 gene that encodes a peroxisomal transmembrane protein. It results in accumulation of very long chain fatty acids in tissues and body fluid. Along with other factors such as epigenetic and environmental involvement, ABCD1 mutation-provoked disorders can present different phenotypes including cerebral adrenoleukodystrophy (cALD), adrenomyeloneuropathy (AMN), and peripheral neuropathy. cALD is the most severe form that causes death in young childhood. Bone marrow transplantation and hematopoietic stem cell gene therapy are only effective when performed at an early stage of onsets in cALD. Nonetheless, current research and development of novel therapies are hampered by a lack of in-depth understanding disease pathophysiology and a lack of reliable cALD models. The Abcd1 and Abcd1/Abcd2 knock-out mouse models as well as the deficiency of Abcd1 rabbit models created in our lab, do not develop cALD phenotypes observed in human beings. In this review, we summarize the clinical and biochemical features of X-ALD, the progress of pre-clinical and clinical studies. Challenges and perspectives for future X-ALD studies are also discussed.
Persistent Identifierhttp://hdl.handle.net/10722/305388
ISSN
2023 Impact Factor: 6.9
2023 SCImago Journal Rankings: 1.493
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorMa, CY-
dc.contributor.authorLi, C-
dc.contributor.authorZhou, X-
dc.contributor.authorZhang, Z-
dc.contributor.authorJiang, H-
dc.contributor.authorLiu, H-
dc.contributor.authorChen, HJ-
dc.contributor.authorTse, HF-
dc.contributor.authorLiao, C-
dc.contributor.authorLian, Q-
dc.date.accessioned2021-10-20T10:08:42Z-
dc.date.available2021-10-20T10:08:42Z-
dc.date.issued2021-
dc.identifier.citationBiomedicine & Pharmacotherapy, 2021, v. 143, p. article no. 112214-
dc.identifier.issn0753-3322-
dc.identifier.urihttp://hdl.handle.net/10722/305388-
dc.description.abstractX-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder associated with mutations of the ABCD1 gene that encodes a peroxisomal transmembrane protein. It results in accumulation of very long chain fatty acids in tissues and body fluid. Along with other factors such as epigenetic and environmental involvement, ABCD1 mutation-provoked disorders can present different phenotypes including cerebral adrenoleukodystrophy (cALD), adrenomyeloneuropathy (AMN), and peripheral neuropathy. cALD is the most severe form that causes death in young childhood. Bone marrow transplantation and hematopoietic stem cell gene therapy are only effective when performed at an early stage of onsets in cALD. Nonetheless, current research and development of novel therapies are hampered by a lack of in-depth understanding disease pathophysiology and a lack of reliable cALD models. The Abcd1 and Abcd1/Abcd2 knock-out mouse models as well as the deficiency of Abcd1 rabbit models created in our lab, do not develop cALD phenotypes observed in human beings. In this review, we summarize the clinical and biochemical features of X-ALD, the progress of pre-clinical and clinical studies. Challenges and perspectives for future X-ALD studies are also discussed.-
dc.languageeng-
dc.publisherElsevier: Creative Commons Licenses. The Journal's web site is located at http://www.elsevier.com/locate/biopha-
dc.relation.ispartofBiomedicine & Pharmacotherapy-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectX-linked adrenoleukodystrophy-
dc.subjectABCD1-
dc.subjectVery long chain fatty acids-
dc.subjectNeurodegeneration-
dc.subjectDemyelination-
dc.titleManagement of adrenoleukodystrophy: From pre-clinical studies to the development of new therapies-
dc.typeArticle-
dc.identifier.emailMa, CY: mcy920@HKUCC-COM.hku.hk-
dc.identifier.emailZhang, Z: zhucex1a@hku.hk-
dc.identifier.emailTse, HF: hftse@hkucc.hku.hk-
dc.identifier.emailLian, Q: qzlian@hku.hk-
dc.identifier.authorityTse, HF=rp00428-
dc.identifier.authorityLian, Q=rp00267-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1016/j.biopha.2021.112214-
dc.identifier.pmid34560537-
dc.identifier.scopuseid_2-s2.0-85115338600-
dc.identifier.hkuros326992-
dc.identifier.volume143-
dc.identifier.spagearticle no. 112214-
dc.identifier.epagearticle no. 112214-
dc.identifier.isiWOS:000704900100014-
dc.publisher.placeFrance-

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