Pathogenic ZNF319 variant disrupts nuclear localization and transcriptional regulation to cause a novel form of autosomal recessive leukodystrophy.

Saved in:
Bibliographic Details
Title: Pathogenic ZNF319 variant disrupts nuclear localization and transcriptional regulation to cause a novel form of autosomal recessive leukodystrophy.
Authors: Ahmad SR; Hiralal Mazumdar Memorial College for Women, West Bengal State University, Kolkata, West Bengal, India. professor.rehaan@gmail.com., Zeyaullah M; Department of Basic Medical Science, College of Applied Medical Sciences, Khamis Mushait Campus, King Khalid University (KKU), Abha, Saudi Arabia., Zahrani Y; Department of Public Health, College of Applied Medical Sciences, Khamis Mushait Campus, King Khalid University (KKU), Abha, Saudi Arabia., Altijani AAG; Department of Public Health, College of Applied Medical Sciences, Khamis Mushait Campus, King Khalid University (KKU), Abha, Saudi Arabia., Dawria A; Department of Public Health, College of Applied Medical Sciences, Khamis Mushait Campus, King Khalid University (KKU), Abha, Saudi Arabia., Salih A; Department of Public Health, College of Health Sciences, Saudi Electronic University, Dammam, Saudi Arabia.
Source: Journal of human genetics [J Hum Genet] 2025 Nov; Vol. 70 (11), pp. 577-587. Date of Electronic Publication: 2025 Aug 18.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1435-232X
DOI:10.1038/s10038-025-01386-2