SLC25A46 Pathway (Homo sapiens)
From WikiPathways
Description
SLC25A46 is one of the genes found in CMT
Quality Tags
Ontology Terms
Pathway Ontology : signaling pathway kinase mediated signaling pathway
Bibliography
- Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC; ''Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.''; Brain, 2016 PubMed Europe PMC Scholia
- Janer A, Prudent J, Paupe V, Fahiminiya S, Majewski J, Sgarioto N, Des Rosiers C, Forest A, Lin ZY, Gingras AC, Mitchell G, McBride HM, Shoubridge EA; ''SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.''; EMBO Mol Med, 2016 PubMed Europe PMC Scholia
- Schuettpelz J, Janer A, Antonicka H, Shoubridge EA; ''The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion.''; Life Sci Alliance, 2023 PubMed Europe PMC Scholia
History
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External references
DataNodes
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Annotated Interactions
No annotated interactions