Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder

Purpose: Hexokinase 1 (HK1) encodes a ubiquitously expressed hexokinase, which is responsible for the first step of glycolysis, phosphorylation of glucose to glucose-6-phosphate. Both autosomal recessive and dominant variants in this gene have previously been shown to cause human disease, and presen...

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Principais autores:	Bobby G. Ng, Erik A. Eklund, Jill A. Rosenfeld, Abdallah F. Elias, Aya Abu-El-Haija, Celine Bris, Magalie Barth, Jong-Hee Chae, Murim Choi, Holly A. Dubbs, Carl Fratter, Nicola Foulds, Candace Gamble, Ralitza H. Gavrilova, Jaclyn Haven, Trevor L. Hoffman, Jill V. Hunter, Austin Larson, Timothy Edward Lotze, Pilar Magoulas, Emily C. Magness, Debra M. Bootin, Eric D. Marsh, Victoria Nesbitt, Matthew T. Pastore, Joanna Poulton, Shamima Rahman, Fernando Scaglia, Chaya Murali, Jennifer Posey, Joshua Rotenberg, Betsy Schmalz, Deepali N. Shinde, Zöe Powis, Rivka Sukenik-Halevy, Kristen V. Truxal, Tami Uster, Matheus Vernet Machado Bressan Wilke, Erik Klee, Hyewon Woo, Donald Younkin, Jianhua Zhao, Jorge Granadillo, Seema Lalani, David Chitayat, Wendy K. Chung, Hudson H. Freeze, Volkan Okur
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2025-01-01
coleção:	Genetics in Medicine Open
Assuntos:	Hexokinase HK1 Leigh syndrome spectrum Mitochondrial disorder NEDVIBA
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S2949774425014645
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