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
Glycerophosphoinositol is Elevated in Blood Samples From CLN3 Δex7-8 pigs, Cln3 Δex7-8 Mice, and CLN3-Affected Individuals.
Brudvig JJ et al.
Biomarker Insights, 2022
36212622 (PubMed )
Supplement: sj-xlsx-3-bmi-10.1177_11772719221107765.xlsx › Patient-Level_CSF_Data
Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
Sarpong A et al.
Clinical Genetics, 2009
The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.
Haines RL et al.
Disease Models & Mechanisms, 0
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