Associated Papers
A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs.
Saleh MA et al.
International Journal of Molecular Sciences, 2025
A novel missense variant in HIKESHI: Clinical phenotype, in vitro functional testing, and potential for gene therapy.
Mallack EJ et al.
American Journal of Medical Genetics. Part A, 2024
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T et al.
Neurology International, 2023
Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.
Helman G et al.
Pediatric Neurology, 2021
The Infantile Leukoencephalopathy-Associated Mutation of C11ORF73/HIKESHI Proteins Generates de novo Interactive Activity with Filamin A, Inhibiting Oligodendroglial Cell Morphological Differentiation.
Hattori K et al.
Medicines (basel, Switzerland), 2021
Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy.
Vasilescu C et al.
European Journal of Human Genetics : Ejhg, 2017
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