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Article

Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.

Glycobiology - 1 Apr 2004

Tsiakas Kostas, Steinfeld Robert, Storch Stephan, Ezaki Junji, Lukacs Zoltan, Kominami Eiki, Kohlschütter Alfried, Ullrich Kurt, Braulke Thomas

Abstract excerpt

Late infantile neuronal ceroid lipofuscinosis (LINCL) is caused by the deficiency of the lysosomal tripeptidyl peptidase-I encoded by CLN2. We previously detected in two LINCL patients a homozygous missense mutation, p.Asn286Ser, that affects a potential N-glycosylation site. We introduced the p....

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PMID: 14736728
DOI: 10.1093/glycob/cwh054

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14736728-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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