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- W3208063762 abstract "Background: Two multimeric endosomal complexes are known as the regulator for the lysosomal function and mobility, BLOC-1 and BORC. One of the core subunits of the BORC complex is BORCS7, a 106 amino acid protein with a C-terminal coiled coil domain. A mutation in BORCS7 (p.Q87*) in mice displayed impaired motor performance in several tests at 5 weeks of age, accompanied by morphologic abnormalities within the spinal cord with similarities to human hereditary spastic paraplegia (Snouweart 2018). No mutations in human BORCS7 have been reported until now." @default.
- W3208063762 created "2021-11-08" @default.
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- W3208063762 date "2021-10-28" @default.
- W3208063762 modified "2023-10-12" @default.
- W3208063762 title "Novel Lysosomal Positioning Defects Due to Biallelic Mutations in BORCS7 Causes a Neurodegenerative Disease Presenting as Hereditary-Spastic Paraplegia" @default.
- W3208063762 doi "https://doi.org/10.1055/s-0041-1739691" @default.
- W3208063762 hasPublicationYear "2021" @default.
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