{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Yang J"],"funding":["National Natural Science Foundation of China"],"pagination":["e1777"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8580076"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["9(10)"],"pubmed_abstract":["<h4>Background</h4>Cathepsin D is a lysosomal aspartic protease encoded by the CTSD gene. It plays important roles in many biological processes. Biallelic loss-of-function mutation of CTSD is considered a cause of CLN10 disease. CLN10 is a rare autosomal recessive disorder that is one of 14 types of neuronal ceroid lipofuscinoses (NCLs). To date, only a few cases of CLN10 and 12 disease-causing mutations have been reported worldwide.<h4>Methods</h4>Exome sequencing was performed on a 15-year-old girl with pervasive brain developmental disorder. The effects of the identified variants were investigated through multiple functional experiments.<h4>Results</h4>There were no differences in mRNA and protein expression, intracellular localization, maturation, and proteolytic activity between the c"],"journal":["Molecular genetics & genomic medicine"],"pubmed_title":["The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease."],"pmcid":["PMC8580076"],"funding_grant_id":["81070269","81571388"],"pubmed_authors":["Yang J","Ding X","Meng S","Cai J","Zhou W"],"additional_accession":[]},"is_claimable":false,"name":"The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease.","description":"<h4>Background</h4>Cathepsin D is a lysosomal aspartic protease encoded by the CTSD gene. It plays important roles in many biological processes. Biallelic loss-of-function mutation of CTSD is considered a cause of CLN10 disease. CLN10 is a rare autosomal recessive disorder that is one of 14 types of neuronal ceroid lipofuscinoses (NCLs). To date, only a few cases of CLN10 and 12 disease-causing mutations have been reported worldwide.<h4>Methods</h4>Exome sequencing was performed on a 15-year-old girl with pervasive brain developmental disorder. The effects of the identified variants were investigated through multiple functional experiments.<h4>Results</h4>There were no differences in mRNA and protein expression, intracellular localization, maturation, and proteolytic activity between the c","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Oct","modification":"2025-05-29T18:53:41.843Z","creation":"2025-05-29T18:53:41.843Z"},"accession":"S-EPMC8580076","cross_references":{"pubmed":["34331747"],"doi":["10.1002/mgg3.1777"]}}