Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.

doi:10.1093/brain/awad427

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Article

Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.

Brain : a journal of neurology - 3 May 2024

De Pace Raffaella, Maroofian Reza, Paimboeuf Adeline, Zamani Mina, Zaki Maha S, Sadeghian Saeid, Azizimalamiri Reza, Galehdari Hamid, Zeighami Jawaher, Williamson Chad D, Fleming Emily, Zhou Dihong, Gannon Jennifer L, Thiffault Isabelle, Roze Emmanuel, Suri Mohnish, Zifarelli Giovanni, Bauer Peter, Houlden Henry, Severino Mariasavina, Patten Shunmoogum A, Farrow Emily, Bonifacino Juan S

Abstract excerpt

BLOC-one-related complex (BORC) is a multiprotein complex composed of eight subunits named BORCS1-8. BORC associates with the cytosolic face of lysosomes, where it sequentially recruits the small GTPase ARL8 and kinesin-1 and -3 microtubule motors to promote anterograde transport of lysosomes toward the peripheral cytoplasm in non-neuronal cells and the distal axon in neurons. The physiological and pathological...

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PMID: 38128568
DOI: 10.1093/brain/awad427
PMCID: PMC11068110

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