BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

The American Journal of Human Genetics 2026

View at publisher
Authors: Raffaella De Pace, Carlos A Dominguez Gonzalez, Chad D. Williamson, Guy Helman, Leslie E. Sanderson, Brianna Disanza, Nicole Hsiao-Sánchez, Amy Pizzino, Kayla Muirhead, Joshua L. Bonkowsky, Ryan J. Taft, Nouriya A. Sannaa
+27 more Patricia Dias, Ana Sofia Quintas, Mehmet Burak Mutlu, Hasan Baş, Hasan Ümit Öztürk, Majid Mojarrad, Masoome Alerasool, Shahriar Sheikhani, Hayder Kadhim Jabbar, Awatif Hameed Issa, Henry Houlden, Emir Zonic, Tahsin Stefan Barakat, Kornelia Tripolski, Antonio Romito, Eden Yitna Teferedegn, Arastoo Vossough, Matthew T. Whitehead, Elizabeth Bhoj, Rebecca Ahrens-Nicklas, Cas Simons, Ernst J. Wolvetang, Tjakko J. van Ham, Aida M Bertoli-Avella, Reza Maroofian, Juan S. Bonifacino, Adeline Vanderver
DOI: 10.1016/j.ajhg.2026.02.024
Cited by: 2
References: 67

Fields of Study & Subjects

RNA regulation and disease Lysosomal Storage Disorders Research Calcium signaling and nucleotide metabolism

Publication details

Journal / source
The American Journal of Human Genetics
Publisher
Elsevier BV
Volume
113
Issue
4
Pages
736–753
Publication date
25 March 2026
Language
EN