Functional Analysis of Novel Variants Located in the Tetramerization Loop of ACAT1

Yue Xiao; Hideo Sasai; Hideki Matsumoto; Mai Mori; Yuka Aoyama; Norio Kawamoto; Drago Bratkovic; Hidenori Ohnishi

doi:10.1620/tjem.2024.J132

Functional Analysis of Novel Variants Located in the Tetramerization Loop of ACAT1

Tohoku J Exp Med. 2024 Nov 7. doi: 10.1620/tjem.2024.J132. Online ahead of print.

Authors

Yue Xiao¹, Hideo Sasai^{1

2

3}, Hideki Matsumoto¹, Mai Mori^{1

3}, Yuka Aoyama^{1

4}, Norio Kawamoto^{1

5}, Drago Bratkovic⁶, Hidenori Ohnishi^{1

3

5}

Affiliations

¹ Department of Pediatrics, Graduate School of Medicine, Gifu University.
² Department of Early Diagnosis and Preventive Medicine for Rare Intractable Pediatric Diseases, Graduate School of Medicine, Gifu University.
³ Clinical Genetics Center, Gifu University Hospital.
⁴ Department of Clinical Engineering, College of Life and Health Sciences, Chubu University.
⁵ Center for One Medicine Innovative Translational Research, Gifu University.
⁶ Metabolic Clinic, Women's and Children's Hospital.

PMID: 39505524
DOI: 10.1620/tjem.2024.J132

No abstract available