A Mutation in the Borcs7 Subunit of the Lysosome Regulatory BORC Complex Results in Motor Deficits and Dystrophic Axonopathy in Mice

Lysosomes play a critical role in maintenance of the integrity of neuronal function, and mutations in genes that contribute to lysosome formation, transport, and activity are associated with neurodegenerative disorders. Recently, the multisubunit complex, BLOC-one-related complex (BORC), has been sh...

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Veröffentlicht in:	Cell reports (Cambridge) 2018-07, Vol.24 (5), p.1254-1265
Hauptverfasser:	Snouwaert, John N., Church, Rachel J., Jania, Leigh, Nguyen, MyTrang, Wheeler, Matthew L., Saintsing, Andrew, Mieczkowski, Piotr, Manuel de Villena, Fernando Pardo, Armao, Diane, Moy, Sheryl S., Lorenzo, Damaris N., Koller, Beverly H.
Format:	Artikel
Sprache:	eng
Schlagworte:	2010012O05Rik amyotrophic lateral sclerosis Animals Axonal Transport Borcs7 knockout mouse C10orf32 Diaskedin Female hereditary spastic paraplegia kinesin Locomotion Loss of Function Mutation Lysosomal Membrane Proteins - genetics lysosome trafficking Lysosomes - metabolism Male Mice Mice, Inbred BALB C Mice, Inbred C57BL Neuroaxonal Dystrophies - genetics neuroaxonal dystrophy neurodegenerative disorders Neurons - metabolism
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