{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Pandey R"],"funding":["CAG IDF","CHOP’s Endowed Chair in Genomic Research Hakon Hakonarson"],"pagination":["8224"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10179542"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["24(9)"],"pubmed_abstract":["CLEC16A is emerging as an important genetic risk factor for several autoimmune disorders and for Parkinson disease (PD), opening new avenues for translational research and therapeutic development. While the exact role of CLEC16A in health and disease is still being elucidated, the gene plays a critical role in the regulation of autophagy, mitophagy, endocytosis, intracellular trafficking, immune function, and in biological processes such as insulin secretion and others that are important to cellular homeostasis. As shown in both human and animal modeling studies, CLEC16A hypofunction predisposes to both autoinflammatory phenotype and neurodegeneration. While the two are clearly related, further functional studies are needed to fully understand the mechanisms involved for optimized therapeu"],"journal":["International journal of molecular sciences"],"pubmed_title":["<i>CLEC16A</i>-An Emerging Master Regulator of Autoimmunity and Neurodegeneration."],"pmcid":["PMC10179542"],"funding_grant_id":["FY23 (7225940623)","FY23 7224960623"],"pubmed_authors":["Bakay M","Hakonarson H","Pandey R"],"additional_accession":[]},"is_claimable":false,"name":"<i>CLEC16A</i>-An Emerging Master Regulator of Autoimmunity and Neurodegeneration.","description":"CLEC16A is emerging as an important genetic risk factor for several autoimmune disorders and for Parkinson disease (PD), opening new avenues for translational research and therapeutic development. While the exact role of CLEC16A in health and disease is still being elucidated, the gene plays a critical role in the regulation of autophagy, mitophagy, endocytosis, intracellular trafficking, immune function, and in biological processes such as insulin secretion and others that are important to cellular homeostasis. As shown in both human and animal modeling studies, CLEC16A hypofunction predisposes to both autoinflammatory phenotype and neurodegeneration. While the two are clearly related, further functional studies are needed to fully understand the mechanisms involved for optimized therapeu","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 May","modification":"2025-04-04T13:07:36.022Z","creation":"2025-04-04T13:07:36.022Z"},"accession":"S-EPMC10179542","cross_references":{"pubmed":["37175930"],"doi":["10.3390/ijms24098224"]}}