{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Saleh MA"],"funding":["European Leukodystrophy Association","Israel Science Foundation"],"pagination":["6037"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12250047"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["26(13)"],"pubmed_abstract":["HIKESHI-related hypomyelinating leukodystrophy (HHL) is a life-threatening disorder caused by homozygous pathogenic variants in <i>HIKESHI</i>. Symptoms include infantile onset progressive spastic dystonic quadriplegia, nystagmus, failure to thrive, diffused hypomyelination, and severe morbidity or death following febrile illness. V54L variants in <i>HIKESHI</i> are particularly prevalent within the Ashkenazi Jewish population. Here, we identified a novel P78S disease-causing variant in <i>HIKESHI</i> in a patient of Christian Arab origin, presenting with clinical and radiologic features characteristic of HHL. In silico analysis suggests that the mutated residue may affect the HIKESHI protein's dimerization domain. We generated a comprehensive set of induced pluripotent stem cells (iPSCs) "],"journal":["International journal of molecular sciences"],"pubmed_title":["A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs."],"pmcid":["PMC12250047"],"funding_grant_id":["923/22, 1416/19, 2841/19","2023-025I3"],"pubmed_authors":["Gershoni-Yahalom O","Libzon S","Vatine GD","Zerem A","Sanchez DS","Ben-Zvi A","Heimer G","Goldenthal O","Zarivach R","Rosental B","Ottolenghi A","Fattal-Valevski A","Ben-Shachar S","Saleh MA","Rabinski T","Boichuck M"],"additional_accession":[]},"is_claimable":false,"name":"A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs.","description":"HIKESHI-related hypomyelinating leukodystrophy (HHL) is a life-threatening disorder caused by homozygous pathogenic variants in <i>HIKESHI</i>. Symptoms include infantile onset progressive spastic dystonic quadriplegia, nystagmus, failure to thrive, diffused hypomyelination, and severe morbidity or death following febrile illness. V54L variants in <i>HIKESHI</i> are particularly prevalent within the Ashkenazi Jewish population. Here, we identified a novel P78S disease-causing variant in <i>HIKESHI</i> in a patient of Christian Arab origin, presenting with clinical and radiologic features characteristic of HHL. In silico analysis suggests that the mutated residue may affect the HIKESHI protein's dimerization domain. We generated a comprehensive set of induced pluripotent stem cells (iPSCs) ","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jun","modification":"2026-07-02T03:15:01.234Z","creation":"2026-07-02T03:11:56.352Z"},"accession":"S-EPMC12250047","cross_references":{"pubmed":["40649816"],"doi":["10.3390/ijms26136037"]}}