Pikachurin: Difference between revisions
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==PIKACHURIN | ==PIKACHURIN== | ||
== Function == | == Function == | ||
Has a Dual function of photoreceptor visual synapse formation and visual perception | |||
== | == Disease == | ||
Visual Impairments were seen in mice with deleted pikachurin gene. Congenital muscular dystrophies (CMD) such as muscle-eye-brain disease caused by defective glycosylation of α-dystroglycan (α-DG) exhibit defective photoreceptor synaptic function. | |||
== References == | == References == | ||
1)Hu H, Li J, Zhang Z, Yu M (February 2011). "Pikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpression". Neurosci. Lett. 489 (1): 10–5. | 1)Hu H, Li J, Zhang Z, Yu M (February 2011). "Pikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpression". Neurosci. Lett. 489 (1): 10–5. | ||
2)http://www.uniprot.org/uniprot/Q63HQ2 | 2)http://www.uniprot.org/uniprot/Q63HQ2 | ||
<references/> | <references/> | ||
Revision as of 00:50, 8 October 2016
PIKACHURINPIKACHURIN
FunctionFunction
Has a Dual function of photoreceptor visual synapse formation and visual perception
DiseaseDisease
Visual Impairments were seen in mice with deleted pikachurin gene. Congenital muscular dystrophies (CMD) such as muscle-eye-brain disease caused by defective glycosylation of α-dystroglycan (α-DG) exhibit defective photoreceptor synaptic function.
ReferencesReferences
1)Hu H, Li J, Zhang Z, Yu M (February 2011). "Pikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpression". Neurosci. Lett. 489 (1): 10–5.