Associated Papers
TRAM-LAG1-CLN8 family proteins are acyltransferases regulating phospholipid composition.
Sheokand PK et al.
Science Advances, 2025
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
CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.
Badura-Stronka M et al.
Genes, 2021
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis.
di Ronza A et al.
Nature Cell Biology, 2018
Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.
Sahin Y et al.
Acta Neurologica Belgica, 2017
Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features.
Sanchez RL et al.
American Journal of Ophthalmology Case Reports, 2016
29503925 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.
Katata Y et al.
Brain & Development, 2016
Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.
Kmoch S et al.
Biochimica Et Biophysica Acta, 2013
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
Reinhardt K et al.
Clinical Genetics, 2010
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