Mice homozygous for c.451C>T mutation inCln1gene recapitulate INCL phenotype

Neuroprotection and lifespan extension in Ppt1 −/− mice by NtBuHA: therapeutic implications for INCL

(2013) Chinmoy Sarkar et al.   NATURE NEUROSCIENCE

Ataluren as an Agent for Therapeutic Nonsense Suppression

(2012) Stuart W. Peltz et al.   Annual Review of Medicine

Human pathology in NCL

(2012) Glenn W. Anderson et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Therapeutic Approaches to the Challenge of Neuronal Ceroid Lipofuscinoses

(2011) R. Kohan et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

(2011) Maria Kousi et al.   HUMAN MUTATION

Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients

(2011) Chinmoy Sarkar et al.   MOLECULAR GENETICS AND METABOLISM

The intracellular dynamic of protein palmitoylation

(2010) Christine Salaun et al.   JOURNAL OF CELL BIOLOGY

Two distinct processes are evident in rat cone flicker ERG responses at low and high temporal frequencies

(2008) Haohua Qian et al.   EXPERIMENTAL EYE RESEARCH