Article
A tailored Cln3Q352X mouse model for testing therapeutic interventions in CLN3 Batten disease.
Scientific reports - 29 Jun 2020
Langin Logan, Johnson Tyler B, Kovács Attila D, Pearce David A, Weimer Jill M
Abstract excerpt
CLN3 Batten disease (CLN3 disease) is a pediatric lysosomal storage disorder that presents with progressive blindness, motor and cognitive decline, seizures, and premature death. CLN3 disease results from mutations in CLN3 with the most prevalent mutation, a 966 bp deletion spanning exons 7-8, affecting ~ 75% of patients. Mouse models with complete Cln3 deletion or Cln3Δex7/8 mutation have been invaluable for...
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