Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

被引：24

作者：

Correa-Vela, Marta ^{[1
,2
]}

Lupo, Vincenzo ^{[3
,4
]}

Montpeyo, Marta ^{[5
]}

Sancho, Paula ^{[3
,4
]}

Marce-Grau, Anna ^{[1
]}

Hernandez-Vara, Jorge ^{[6
]}

Darling, Alejandra ^{[7
]}

Jenkins, Alison ^{[3
]}

Fernandez-Rodriguez, Sandra ^{[3
]}

Tello, Cristina ^{[3
]}

Ramirez-Jimenez, Laura ^{[8
]}

Perez, Belen ^{[9
]}

Sanchez-Montanez, Angel ^{[10
]}

Macaya, Alfons ^{[1
,2
]}

Sobrido, Maria J. ^{[11
,12
]}

Martinez-Vicente, Marta ^{[6
]}

Perez-Duenas, Belen ^{[1
,2
]}

Espinos, Carmen ^{[3
,4
]}

机构：

[1] Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Dept Pediat Neurol, Barcelona, Spain

[2] Univ Autonoma Barcelona, Barcelona, Spain

[3] Ctr Invest Principe Felipe CIPF, Unit Genet & Genom Neuromuscular & Neurodegenerat, C Eduardo Primo Yufera 13, Valencia 46012, Spain

[4] Ctr Invest Principe Felipe CIPF, Joint Units INCLIVA & IIS La Fe Rare Dis, Valencia, Spain

[5] Inst Recerca, Neurodegenerat Dis CIBERNED, Barcelona, Spain

[6] Hosp Univ Vall dHebron, Dept Neurol, Barcelona, Spain

[7] Hosp St Joan de Deu, Dept Pediat Neurol, Barcelona, Spain

[8] Ctr Invest Principe Felipe CIPF, Unit Genom & Traslat Genet, Valencia, Spain

[9] Univ Autonoma Madrid, Inst Invest Sanitaria Hosp La Paz IdiPaz, Ctr Biol Mol Severo Ochoa UAM CSIC,CIBER Rare Dis, Ctr Diagnost Enfermedades Mol CEDEM,Dept Mol Biol, Madrid, Spain

[10] Hosp Univ Vall dHebron, Dept Pediat Radiol, Barcelona, Spain

[11] Fdn Publ Galega Med Xenom, Inst Invest Sanitarias IDIS, Neurogenet Res Grp, Santiago De Compostela, Spain

[12] CIBER Rare Dis CIBERER, Santiago De Compostela, Spain

来源：

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY | 2020年 / 7卷 / 08期

关键词：

F-BOX; ONSET PARKINSONISM; PYRAMIDAL SIGNS; MUTATIONS; DECAY;

D O I：

10.1002/acn3.51095

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1436 / 1442

页数：7

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