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Title:

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.

Document type:
Article; Journal Article
Author(s):
Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W; Godwin, Annie; Zaki, Maha S; Huang, Kevin; Lau, Tracy; Petree, Cassidy; Efthymiou, Stephanie; Karimiani, Ehsan Ghayoor; Hempel, Maja; Normand, Elizabeth A; Rudnik-Schöneborn, Sabine; Schatz, Ulrich A; Baggelaar, Marc P; Ilyas, Muhammad; Sultan, Tipu; Alvi, Javeria Raza; Ganieva, Manizha; Fowler, Ben; Aanicai, Ruxandra; Tayfun, Gulsen Akay; Al Saman, Abdulaziz; Alswaid, Abdulrahman; Amiri, Nafise; Asil...     »
Abstract:
The acyl-CoA-binding domain-containing protein 6 (ACBD6) is ubiquitously expressed, plays a role in the acylation of lipids and proteins and regulates the N-myristoylation of proteins via N-myristoyltransferase enzymes (NMTs). However, its precise function in cells is still unclear, as is the consequence of ACBD6 defects on human pathophysiology. Using exome sequencing and extensive international data sharing efforts, we identified 45 affected individuals from 28 unrelated families (consanguinit...     »
Journal title abbreviation:
Brain
Year:
2024
Journal volume:
147
Journal issue:
4
Pages contribution:
1436-1456
Fulltext / DOI:
doi:10.1093/brain/awad380
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/37951597
Print-ISSN:
0006-8950
TUM Institution:
Institut für Humangenetik (Prof. Winkelmann)
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