Associated Papers
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
Scotto Rosato A et al.
Embo Molecular Medicine, 2022
The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.
Villanueva-Mendoza C et al.
Genes, 2021
Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium.
Zhong Y et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
Autophagic vacuolar myopathy is a common feature of CLN3 disease.
Radke J et al.
Annals of Clinical and Translational Neurology, 2018
30480032 (PubMed )
Supplement: ACN3-5-1385-s001.doc
Timing of cognitive decline in CLN3 disease.
Kuper WFE et al.
Journal of Inherited Metabolic Disease, 2018
29392585 (PubMed )
Supplement: 10545_2018_143_MOESM1_ESM.docx
A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy.
Licchetta L et al.
European Journal of Medical Genetics, 2015
Novel CLN3 mutation causing autophagic vacuolar myopathy.
Cortese A et al.
Neurology, 2014
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