Browsing by Author "Vockley, Jerry"
Now showing items 1-2 of 2
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ETHE1 and MOCS1 deficiencies : disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts
Grings, Mateus; Seminotti, Bianca; Karunanidhi, Anuradha; Gonzalez, Lina Ghaloul; Mohsen, Al-Walid; Wipf, Peter; Palmfeldt, Johan; Vockley, Jerry; Leipnitz, Guilhian (2019) [Journal article]Ethylmalonic encephalopathy protein 1 (ETHE1) and molybdenum cofactor (MoCo) defciencies are hereditary disorders that afect the catabolism of sulfur-containing amino acids. ETHE1 defciency is caused by mutations in the ... -
Myelin disruption, neuroinflammation, and oxidative stress induced by sulfite in the striatum of rats are mitigated by the pan-PPAR agonist bezafibrate
Glänzel, Nícolas Manzke; Parmeggiani, Belisa dos Santos; Grings, Mateus; Seminotti, Bianca; Brondani, Morgana; Bobermin, Larissa Daniele; Ribeiro, César Augusto João; Quincozes-Santos, André; Vockley, Jerry; Leipnitz, Guilhian (2023) [Journal article]Sulfite predominantly accumulates in the brain of patients with isolated sulfite oxidase (ISOD) and molybdenum cofactor (MoCD) deficiencies. Patients present with severe neurological symptoms and basal ganglia alterations, ...