{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Remis NN"],"funding":["NIDCD NIH HHS","NINDS NIH HHS","NIGMS NIH HHS"],"pagination":["e1004833"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4270466"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["10(12)"],"pubmed_abstract":["During the suckling period, intestinal enterocytes are richly endowed with endosomes and lysosomes, which they presumably utilize for the uptake and intracellular digestion of milk proteins. By weaning, mature intestinal enterocytes replace those rich in lysosomes. We found that mouse enterocytes before weaning express high levels of two endolysosomal cation channels, mucolipins 3 and 1 -products of Trpml3 and Trpml1 genes; moreover neonatal enterocytes of mice lacking both mucolipins (Trpml3-/-;Trpml1-/-) vacuolated pathologically within hours of birth and remained so until weaning. Ultrastructurally and chemically these fast-forming vacuoles resembled those that systemically appear in epithelial cells of mucolipidosis type IV (MLIV) patients, which bear mutations in Trpml1. Hence, lack o"],"journal":["PLoS genetics"],"pubmed_title":["Mucolipin co-deficiency causes accelerated endolysosomal vacuolation of enterocytes and failure-to-thrive from birth to weaning."],"pmcid":["PMC4270466"],"funding_grant_id":["R01 NS044363","R25 GM079300","T32 NS041234","F31 DC010529"],"pubmed_authors":["Wiwatpanit T","Castiglioni AJ","Garcia-Anoveros J","Flores EN","Remis NN","Cantu JA"],"additional_accession":[]},"is_claimable":false,"name":"Mucolipin co-deficiency causes accelerated endolysosomal vacuolation of enterocytes and failure-to-thrive from birth to weaning.","description":"During the suckling period, intestinal enterocytes are richly endowed with endosomes and lysosomes, which they presumably utilize for the uptake and intracellular digestion of milk proteins. By weaning, mature intestinal enterocytes replace those rich in lysosomes. We found that mouse enterocytes before weaning express high levels of two endolysosomal cation channels, mucolipins 3 and 1 -products of Trpml3 and Trpml1 genes; moreover neonatal enterocytes of mice lacking both mucolipins (Trpml3-/-;Trpml1-/-) vacuolated pathologically within hours of birth and remained so until weaning. Ultrastructurally and chemically these fast-forming vacuoles resembled those that systemically appear in epithelial cells of mucolipidosis type IV (MLIV) patients, which bear mutations in Trpml1. Hence, lack o","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014 Dec","modification":"2026-04-07T16:28:08.146Z","creation":"2019-03-27T01:42:03Z"},"accession":"S-EPMC4270466","cross_references":{"pubmed":["25521295"],"doi":["10.1371/journal.pgen.1004833"]}}