Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs)

被引：6

作者：

Torii, Tomohiro ^{[1
,2
,3
]}

Yamauchi, Junji ^{[1
,4
]}

机构：

[1] Tokyo Univ Pharm & Life Sci, Lab Mol Neurol, Hachioji 1920392, Japan

[2] Doshisha Univ, Grad Sch Brain Sci, Lab Ion Channel Pathophysiol, Kyotanabe 6100394, Japan

[3] Doshisha Univ, Ctr Res Neurodegenerat Dis, Kyotanabe 6100394, Japan

[4] Natl Res Inst Child Hlth & Dev, Dept Pharmacol, Setagaya Ku, Tokyo 1578535, Japan

来源：

NEUROLOGY INTERNATIONAL | 2023年 / 15卷 / 03期

关键词：

oligodendrocytes; myelin; hypomyelination; demyelination; hypomyelinating leukodystrophy (HLD); PELIZAEUS-MERZBACHER DISEASE; PROTEOLIPID PROTEIN; MUTATIONS CAUSE; KRABBE-DISEASE; RARS CAUSE; MYELIN; PYCR2; DISORDER; LEADS; BRAIN;

D O I：

10.3390/neurolint15030072

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1155 / 1173

页数：19

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