Article
Clec16a is Critical for Autolysosome Function and Purkinje Cell Survival.
Scientific reports - 18 Mar 2016
Redmann Veronika, Lamb Christopher A, Hwang Seungmin, Orchard Robert C, Kim Sungsu, Razi Minoo, Milam Ashley, Park Sunmin, Yokoyama Christine C, Kambal Amal, Kreamalmeyer Darren, Bosch Marie K, Xiao Maolei, Green Karen, Kim Jungsu, Pruett-Miller Shondra M, Ornitz David M, Allen Paul M, Beatty Wandy L, Schmidt Robert E, DiAntonio Aaron, Tooze Sharon A, Virgin Herbert W
Abstract excerpt
CLEC16A is in a locus genetically linked to autoimmune diseases including multiple sclerosis, but the function of this gene in the nervous system is unknown. Here we show that two mouse strains carrying independent Clec16a mutations developed neurodegenerative disease characterized by motor impairments and loss of Purkinje cells. Neurons from Clec16a-mutant mice exhibited increased expression of the autophagy...
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