CLN3L, a novel protein related to the Batten disease protein, is overexpressed in Cln3-/- mice and in Batten disease

Brain : a Journal of Neurology
Srinivas B NarayanM J Bennett

Abstract

Batten disease is a severe autosomal recessive neurodegenerative disease which results from mutations in CLN3. Although the gene was cloned in 1995, the tissue distribution and subcellular localization of the CLN3 protein (CLN3P) remains inconclusive. We have demonstrated the presence of a novel 33 kDa protein in both normal human and wild-type mouse brain. This 33 kDa protein, which is overexpressed in brains of patients with Batten disease and in Cln3-/- mouse brain, binds to the antibody raised against the peptide sequence of CLN3P and results in aberrant CLN3P localization studies. We expressed a novel 33 kDa protein that is highly similar to CLN3P. We showed that the 33 kDa protein is identical to that recognized in Batten disease and Cln3-/- brain. These studies strongly suggest the presence of an alternative CLN3-like (CLN3L) product in Batten disease. Previous studies of CLN3P tissue distribution and intracellular localization will require extensive reanalysis in order to determine the true expression of CLN3P.

Citations

Jul 16, 2008·Experimental Cell Research·Kristiina Uusi-RauvaAnu Jalanko
Aug 9, 2008·Molecular Genetics and Metabolism·Dinesh RakhejaMichael J Bennett
Jan 20, 2005·Journal of Neuroscience Research·Seasson N PhillipsDavid A Pearce
Oct 13, 2006·Annals of Neurology·Srinivas B NarayanMichael J Bennett
Jul 15, 2006·Biochimica Et Biophysica Acta·Aija KyttäläSandra L Hofmann
May 29, 2018·Archives of Disease in Childhood·Amun Sachdev, Stephen Scotcher

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Batten Disease is a group of nervous system disorders known as neuronal ceroid lipofuscinosis. This feed focuses on neurobiological and neuropathological aspects of this disease.