<italic>ATAD3A</italic> gene variations in a family with Harel-Yoon syndrome
Author:
Publisher
China Science Publishing & Media Ltd.
Subject
General Medicine
Link
https://engine.scichina.com/doi/pdf/915021AB70544F90821D7412F9EE50F4
Reference27 articles.
1. YAP Z Y, PARK Y H, WORTMANN S B. Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes. Genome Med, 2021, 13:
2. DESAI R, FRAZIER A E, DURIGON R. ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and chole-sterol metabolism. Brain, 2017, 140: 1595-1610.
3. GUNNING A C, STRUCINSKA K, MUÑOZ OREJA M. Recurrent de novo NAHR reciprocal duplica-tions in the ATAD3 gene cluster cause a neurogenetic trait with perturbed cholesterol and mitochondrial meta-bolism. Am J Hum Genet, 2020, 106: 272-279.
4. HAREL T, YOON W H, GARONE C. Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes. Am J Hum Genet, 2016, 99: 831-845.
5. ROY A, KUCUKURAL A, ZHANG Y. I-TASSER: a unified platform for automated protein structure and function prediction. Nat Protoc, 2010, 5: 725-738.
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