Portal de investigación
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect
Fecha de publicación:
Fecha Ahead of Print:
Autores de CIPF
Participantes ajenos a CIPF
- Correa-Vela, M
- Montpeyo, M
- Marce-Grau, A
- Hernandez-Vara, J
- Darling, A
- Jenkins, A
- Perez, B
- Sanchez-Montanez, A
- Macaya, A
- Sobrido, MJ
- Martinez-Vicente, M
- Perez-Duenas, B
Grupos de Investigación
Abstract
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.
Datos de la publicación
- ISSN/ISSNe:
- 2328-9503, 2328-9503
- Tipo:
- Article
- Páginas:
- 1436-1442
- DOI:
- 10.1002/acn3.51095
- PubMed:
- 32767480
Annals of Clinical and Translational Neurology John Wiley and Sons Inc.
Citas Recibidas en Web of Science: 24
Documentos
- No hay documentos
Filiaciones
Proyectos asociados
An integrative approach to develop cellular models and characterize disease mechanisms implicated in CMT2Z, a newly described axonal form of neuropathy
Investigador Principal: CARMEN ESPINÓS ARMERO
ASSOCIATION FRANÇAISE CONTRE LES MYOPATHIES . 2018
Estudios clínicos, bases genéticas y biomarcadores pronósticos en enfermedades raras neurodegenerativas
Investigador Principal: CARMEN ESPINÓS ARMERO
INSTITUTO DE SALUD CARLOS III . 2019
Identificación de nuevas causas genéticas en pacientes con neuropatías periféricas hereditarias y difícil diagnóstico genético
Investigador Principal: VINCENZO LUPO
CONSELLERIA DE EDUCACION . 2019
Caracterización de nuevos genes y biomarcadores proteicos para avanzar en el diagnóstico, prognosis y terapia de la neuropatía axonal hereditaria (CMT2)
Investigador Principal: VINCENZO LUPO
INSTITUTO DE SALUD CARLOS III . 2020
De genes a terapia en enfermedades neurodegenerativas y neuromusculares. Concedido a la UV
Investigador Principal: CARMEN ESPINÓS ARMERO
CONSELLERIA DE EDUCACION . 2018