Associated Papers
Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations.
Ofrim M et al.
Stem Cell Research, 2024
A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.
Basak I et al.
Cellular and Molecular Life Sciences : Cmls, 2021
Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis.
Luo S et al.
Frontiers in Genetics, 2020
Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis.
Ge L et al.
Journal of Child Neurology, 2018
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
Larkin H et al.
Human Mutation, 2013
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.
Moharir A et al.
Plos One, 2013
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
Lebrun AH et al.
Human Mutation, 2009
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