{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Romero-Dominguez JM"],"funding":["Valencian Council for Education, Culture, University and Employment","Instituto de Salud Carlos III","Junta de Andalucía"],"pagination":["741"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12189359"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(6)"],"pubmed_abstract":["Ethylmalonic encephalopathy (EE) is a serious metabolic disorder that usually appears in early childhood development and the effects are seen primarily in the brain, gastrointestinal tract, and peripheral vessels. EE is caused by pathogenic variants in the gene that encodes the ETHE1 protein, and its main features are high levels of acidic compounds in body fluids and decreased activity of the mitochondrial complex IV, which limits energy production in tissues that require a large supply of energy. ETHE1 is a mitochondrial sulfur dioxygenase that plays the role of hydrogen sulfide (H<sub>2</sub>S) detoxification, and, when altered, it leads to the accumulation of this gaseous molecule due to its deficient elimination. In this article, we characterised the pathophysiology of ETHE1 deficienc"],"journal":["Antioxidants (Basel, Switzerland)"],"pubmed_title":["Mitochondrial Unfolded Protein Response (mtUPR) Activation Improves Pathological Alterations in Cellular Models of Ethylmalonic Encephalopathy."],"pmcid":["PMC12189359"],"funding_grant_id":["CTS-5725, PY18-850 and UPO-FEDER 2018 (UPO-1380614)","CIPROM/2023/053","FIS PI19/00377 (2019) and FIS PI22/00142 (2022)"],"pubmed_authors":["Sanchez-Alcazar JA","Cilleros-Holgado P","Reche-Lopez D","Romero-Gonzalez A","Romero-Dominguez JM","De Oliveira MC","Alvarez-Cordoba M","Gomez-Fernandez D","Garcia-Verdugo JM","Aroca A","Pinero-Perez R","Gonzalez-Granero S","Lopez-Cabrera A","Rodriguez-Sacristan A"],"additional_accession":[]},"is_claimable":false,"name":"Mitochondrial Unfolded Protein Response (mtUPR) Activation Improves Pathological Alterations in Cellular Models of Ethylmalonic Encephalopathy.","description":"Ethylmalonic encephalopathy (EE) is a serious metabolic disorder that usually appears in early childhood development and the effects are seen primarily in the brain, gastrointestinal tract, and peripheral vessels. EE is caused by pathogenic variants in the gene that encodes the ETHE1 protein, and its main features are high levels of acidic compounds in body fluids and decreased activity of the mitochondrial complex IV, which limits energy production in tissues that require a large supply of energy. ETHE1 is a mitochondrial sulfur dioxygenase that plays the role of hydrogen sulfide (H<sub>2</sub>S) detoxification, and, when altered, it leads to the accumulation of this gaseous molecule due to its deficient elimination. In this article, we characterised the pathophysiology of ETHE1 deficienc","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jun","modification":"2026-04-08T19:04:06.52Z","creation":"2026-04-08T11:54:09.756Z"},"accession":"S-EPMC12189359","cross_references":{"pubmed":["40563372"],"doi":["10.3390/antiox14060741"]}}