Neurodevelopmental delay in theCln3Δex7/8mouse model for Batten disease

Batten Disease

A yeast model for the study of Batten disease.

Although the CLN3 gene for Batten disease, the most common inherited neurovisceral storage disease of childhood, was identified in 1995, the function of the corresponding protein still remains elusive. We previously cloned the Saccharomyces cerevisiae homologue to the human CLN3 gene, designated BTN1, which is not essential and whose product is 39% identical and 59% similar to Cln3p. We report ...

Behavioral Differences in a Mouse Model of Batten Disease

Juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease, is an autosomal recessive human neurodegenerative disease caused by a mutation in the CLN3 gene. Symptoms of Batten disease are first observed around five years of age and include progressive visual, motor, and cognitive deterioration and seizures that lead to premature death during the third decade of life. Mouse models with di...

A knock-in reporter model of Batten disease.

Juvenile neuronal ceroid lipofuscinosis is a severe inherited neurodegenerative disease resulting from mutations in CLN3 (ceroid-lipofuscinosis, neuronal 3, juvenile). CLN3 function, and where and when it is expressed during development, is not known. In this study, we generated a knock-in reporter mouse to elucidate CLN3 expression during embryogenesis and after birth and to correlate expressi...

pH-dependent localization of Btn1p in the yeast model for Batten disease

Btn1p the yeast homolog of human CLN3, which is associated with juvenile Batten disease has been implicated in several cellular pathways. Yeast cells lacking BTN1 are unable to couple ATP hydrolysis and proton pumping activities by the vacuolar ATPase (V-ATPase). In this work, we demonstrate that changes in extracellular pH result in altered transcription of BTN1, as well as a change in the gly...