The completion of my dissertation would not have been possible without the great effort of
Nuno Raimundo, PhD. I wish to thank for the opportunity to work on such an exciting project …

The CLN3 gene associated with Batten disease and encoding a novel protein of a predicted
438 amino acids was cloned in 1995 by the International Batten Disease Consortium. The …

Background One of the most important steps taken by Beyond Batten Disease Foundation in
our quest to cure juvenile Batten (CLN3) disease is to understand the State of the Science …

Nutritional limitation has been vastly studied; however, there is limited knowledge of how
cells maintain homeostasis in excess nutrients. In this study, using yeast as a model system …

Background/Aims: Non-alcoholic fatty liver disease (NAFLD) is the most common cause of
chronic liver disease. This study aims to investigate whether chloride channel 2 (ClC-2) is …

Neuronal ceroid lipofuscinoses (NCLs) collectively account for the highest prevalence of
inherited neurodegenerative diseases in childhood. This disease group is classified by the …

Late infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal hereditary childhood disease.
The gene underlying LINCL, CLN2, encodes a lysosomal enzyme, tripeptidyl peptidase I …

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Abstract Chloride channel 2 (ClC-2) is one of the nine mammalian members of the ClC
family. The present review discusses the molecular properties of ClC‑2, including CLCN2 …

Introduction: Metabolic disorders are an important health concern that threatens life and
burdens society severely. ClC-3 is a member of the chloride voltage-gated channel family …