| 概要 |
Infantile-onset neurodegeneration with optic atrophy and brain abnormalities (NDOABA) is a novel syndrome characterized by global developmental delay, severe intellectual disability, hypotonia, limb spasticity, muscle wasting, dysmorphic facies, optic atrophy, leuko-axonopathy with hypomyelination, and neurodegenerative features. It has been reported that biallelic mutations in BORCS8 cause this disease. BORCS8 is a subunit of BLOC-one-related complex (BORC) that associates with the cytosolic face of lysosomes. BORC promotes the movement of lysosomes toward the peripheral cytoplasm.
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| 著者 |
De Pace R, Maroofian R, Paimboeuf A, Zamani M, Zaki MS, Sadeghian S, Azizimalamiri R, Galehdari H, Zeighami J, Williamson CD, Fleming E, Zhou D, Gannon JL, Thiffault I, Roze E, Suri M, Zifarelli G, Bauer P, Houlden H, Severino M, Patten SA, Farrow E, Bonifacino JS |
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| 著者 |
Pu J, Schindler C, Jia R, Jarnik M, Backlund P, Bonifacino JS |
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