Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs)
Hypomyelinating leukodystrophies (HLDs) represent a group of congenital rare diseases for which the responsible genes have been identified in recent studies. In this review, we briefly describe the genetic/molecular mechanisms underlying the pathogenesis of HLD and the normal cellular functions of t...
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| Format: | Book |
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MDPI AG,
2023-09-01T00:00:00Z.
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|---|---|---|---|
| 001 | doaj_cebe133d9c4f4169af6fc676a07e7a21 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Tomohiro Torii |e author |
| 700 | 1 | 0 | |a Junji Yamauchi |e author |
| 245 | 0 | 0 | |a Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs) |
| 260 | |b MDPI AG, |c 2023-09-01T00:00:00Z. | ||
| 500 | |a 10.3390/neurolint15030072 | ||
| 500 | |a 2035-8377 | ||
| 520 | |a Hypomyelinating leukodystrophies (HLDs) represent a group of congenital rare diseases for which the responsible genes have been identified in recent studies. In this review, we briefly describe the genetic/molecular mechanisms underlying the pathogenesis of HLD and the normal cellular functions of the related genes and proteins. An increasing number of studies have reported genetic mutations that cause protein misfolding, protein dysfunction, and/or mislocalization associated with HLD. Insight into the mechanisms of these pathways can provide new findings for the clinical treatments of HLD. | ||
| 546 | |a EN | ||
| 690 | |a oligodendrocytes | ||
| 690 | |a myelin | ||
| 690 | |a hypomyelination | ||
| 690 | |a demyelination | ||
| 690 | |a hypomyelinating leukodystrophy (HLD) | ||
| 690 | |a Medicine | ||
| 690 | |a R | ||
| 690 | |a Internal medicine | ||
| 690 | |a RC31-1245 | ||
| 690 | |a Neurosciences. Biological psychiatry. Neuropsychiatry | ||
| 690 | |a RC321-571 | ||
| 690 | |a Neurosciences. Biological psychiatry. Neuropsychiatry | ||
| 690 | |a RC321-571 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Neurology International, Vol 15, Iss 3, Pp 1155-1173 (2023) | |
| 787 | 0 | |n https://www.mdpi.com/2035-8377/15/3/72 | |
| 787 | 0 | |n https://doaj.org/toc/2035-8377 | |
| 856 | 4 | 1 | |u https://doaj.org/article/cebe133d9c4f4169af6fc676a07e7a21 |z Connect to this object online. |