Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect
Altres ajuts: This work was funded by Instituto de Salud Carlos III; Ministerio de Educación, Cultura y Deporte; Spanish Foundation per Amor a l'Art (FPAA) grant ; Fundació la Marató de TV3 grants 20143130; and 20143131; Generalitat Valenciana grants OP ERDF of Comunitat Valenciana 2014-2020; a...
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| creator | Correa-Vela, Marta Lupo, Vincenzo Montpeyó Garcia-Moreno, Marta Sancho, Paula Marcé-Grau, Anna Hernández-Vara, Jorge Darling, Alejandra Jenkins, Alison Fernández-Rodríguez, Sandra Tello, Cristina Ramírez-Jiménez, Laura Pérez, Belén Sánchez-Montáñez, Ángel Macaya Ruiz, Alfons Sobrido, María J Martinez-Vicente, Marta Pérez-Dueñas, Belén Espinós, Carmen Universitat Autònoma de Barcelona |
| description | Altres ajuts: This work was funded by Instituto de Salud Carlos III; Ministerio de Educación, Cultura y Deporte; Spanish Foundation per Amor a l'Art (FPAA) grant ; Fundació la Marató de TV3 grants 20143130; and 20143131; Generalitat Valenciana grants OP ERDF of Comunitat Valenciana 2014-2020; and PROMETEO/2018/135.
FBXO7 is implicated in the ubiquitin-proteasome system and parkin-mediated mitophagy. FBXO7defects cause a levodopa-responsive parkinsonian-pyramidal syndrome(PPS). Methods: We investigated the disease molecular bases in a child with PPS and brain iron accumulation. Results: A novel homozygous c.368C>G (p.S123*) FBXO7 mutation was identified in a child with spastic paraplegia, epilepsy, cerebellar degeneration, levodopa nonresponsive parkinsonism, and brain iron deposition. Patient's fibroblasts assays demonstrated an absence of FBXO7 RNA expression leading to impaired proteasome degradation and accumulation of poly-ubiquitinated proteins. Conclusion: This novel FBXO7 phenotype associated with impaired proteasome activity overlaps with neurodegeneration with brain iron accumulation disorders. |
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FBXO7 is implicated in the ubiquitin-proteasome system and parkin-mediated mitophagy. FBXO7defects cause a levodopa-responsive parkinsonian-pyramidal syndrome(PPS). Methods: We investigated the disease molecular bases in a child with PPS and brain iron accumulation. Results: A novel homozygous c.368C>G (p.S123*) FBXO7 mutation was identified in a child with spastic paraplegia, epilepsy, cerebellar degeneration, levodopa nonresponsive parkinsonism, and brain iron deposition. Patient's fibroblasts assays demonstrated an absence of FBXO7 RNA expression leading to impaired proteasome degradation and accumulation of poly-ubiquitinated proteins. Conclusion: This novel FBXO7 phenotype associated with impaired proteasome activity overlaps with neurodegeneration with brain iron accumulation disorders.</description><language>eng</language><creationdate>2020</creationdate><rights>open access Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. https://creativecommons.org/licenses/by/4.0</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,776,881,26951</link.rule.ids><linktorsrc>$$Uhttps://recercat.cat/handle/2072/507193$$EView_record_in_Consorci_de_Serveis_Universitaris_de_Catalunya_(CSUC)$$FView_record_in_$$GConsorci_de_Serveis_Universitaris_de_Catalunya_(CSUC)$$Hfree_for_read</linktorsrc></links><search><creatorcontrib>Correa-Vela, Marta</creatorcontrib><creatorcontrib>Lupo, Vincenzo</creatorcontrib><creatorcontrib>Montpeyó Garcia-Moreno, Marta</creatorcontrib><creatorcontrib>Sancho, Paula</creatorcontrib><creatorcontrib>Marcé-Grau, Anna</creatorcontrib><creatorcontrib>Hernández-Vara, Jorge</creatorcontrib><creatorcontrib>Darling, Alejandra</creatorcontrib><creatorcontrib>Jenkins, Alison</creatorcontrib><creatorcontrib>Fernández-Rodríguez, Sandra</creatorcontrib><creatorcontrib>Tello, Cristina</creatorcontrib><creatorcontrib>Ramírez-Jiménez, Laura</creatorcontrib><creatorcontrib>Pérez, Belén</creatorcontrib><creatorcontrib>Sánchez-Montáñez, Ángel</creatorcontrib><creatorcontrib>Macaya Ruiz, Alfons</creatorcontrib><creatorcontrib>Sobrido, María J</creatorcontrib><creatorcontrib>Martinez-Vicente, Marta</creatorcontrib><creatorcontrib>Pérez-Dueñas, Belén</creatorcontrib><creatorcontrib>Espinós, Carmen</creatorcontrib><creatorcontrib>Universitat Autònoma de Barcelona</creatorcontrib><title>Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect</title><description>Altres ajuts: This work was funded by Instituto de Salud Carlos III; Ministerio de Educación, Cultura y Deporte; Spanish Foundation per Amor a l'Art (FPAA) grant ; Fundació la Marató de TV3 grants 20143130; and 20143131; Generalitat Valenciana grants OP ERDF of Comunitat Valenciana 2014-2020; and PROMETEO/2018/135.
FBXO7 is implicated in the ubiquitin-proteasome system and parkin-mediated mitophagy. FBXO7defects cause a levodopa-responsive parkinsonian-pyramidal syndrome(PPS). Methods: We investigated the disease molecular bases in a child with PPS and brain iron accumulation. Results: A novel homozygous c.368C>G (p.S123*) FBXO7 mutation was identified in a child with spastic paraplegia, epilepsy, cerebellar degeneration, levodopa nonresponsive parkinsonism, and brain iron deposition. Patient's fibroblasts assays demonstrated an absence of FBXO7 RNA expression leading to impaired proteasome degradation and accumulation of poly-ubiquitinated proteins. 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FBXO7 is implicated in the ubiquitin-proteasome system and parkin-mediated mitophagy. FBXO7defects cause a levodopa-responsive parkinsonian-pyramidal syndrome(PPS). Methods: We investigated the disease molecular bases in a child with PPS and brain iron accumulation. Results: A novel homozygous c.368C>G (p.S123*) FBXO7 mutation was identified in a child with spastic paraplegia, epilepsy, cerebellar degeneration, levodopa nonresponsive parkinsonism, and brain iron deposition. Patient's fibroblasts assays demonstrated an absence of FBXO7 RNA expression leading to impaired proteasome degradation and accumulation of poly-ubiquitinated proteins. Conclusion: This novel FBXO7 phenotype associated with impaired proteasome activity overlaps with neurodegeneration with brain iron accumulation disorders.</abstract><oa>free_for_read</oa></addata></record> |
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| title | Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect |
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