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Molecular Pathogenesis of Adult Onset Neuronal Lipofuscinosis

In 2011, we discovered that mutations in the DNAJC5 gene cause a neurodegenerative disease, the autosomal dominant form of neuronal ceroid lipofuscinosis (AD-ANCL). DNAJC5 encodes cysteine-string protein alpha (CSPα). In subsequent studies, we demonstrated in vitro and in vivo that CSPα plays a...

Thermogenesis: Cold Temperature Challenge

Male C57Bl/6J mice (10–14 weeks, JAX) were monitored in the Promethion indirect calorimeter at 30°C, 23°C, and 4°C, tracking body weight and energy expenditure, with data analyzed in CalR. ​

Continuous glucose monitoring (CGM) : Telemetry

Indirect calorimetry data for one mouse implanted with a glucose and body temperature telemetry probe in the Promethion indirect calorimeter. Food was removed 1 h before start of the dark photoperiod (grey) and mice enter bouts of torpor (Rubio et al Mol Metabolism 2023)​

Germ-free mice

Germ-free mice can be examined using isolator cages (bottom). With this approach, we canexamine the metabolic profile of germ-free mice or mice colonized with specific microbes. ​

Infrared thermal imaging (FLIR)

Thermal imaging was performed using FLIR on juvenile mice placed in a sterile 6-well culture dish to visualize body temperature distribution.