Cargando…
Upregulation of Heat-Shock Protein (hsp)-27 in a Patient with Heterozygous SPG11 c.1951C>T and SYNJ1 c.2614G>T Mutations Causing Clinical Spastic Paraplegia
We report a 49-year-old patient suffering from spastic paraplegia with a novel heterozygous mutation and analyzed the levels of heat shock proteins (hsp)-27, dopamine (DA), and its metabolites in their cerebrospinal fluid (CSF). The hsp27 protein concentration in the patient’s CSF was assayed by an...
Autores principales: | García-Carmona, Juan Antonio, Amores-Iniesta, Joaquín, Soler-Usero, José, Cerdán-Sánchez, María, Navarro-Zaragoza, Javier, López-López, María, Soria-Torrecillas, Juan José, Ballesteros-Arenas, Ainhoa, Pérez-Vicente, José Antonio, Almela, Pilar |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379220/ https://www.ncbi.nlm.nih.gov/pubmed/37510225 http://dx.doi.org/10.3390/genes14071320 |
Ejemplares similares
-
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11
por: Renvoisé, Benoît, et al.
Publicado: (2014) -
An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15
por: Vander Stichele, Geert, et al.
Publicado: (2022) -
Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15
por: Hirst, Jennifer, et al.
Publicado: (2013) -
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia
por: Álvarez, Victoria, et al.
Publicado: (2010) -
Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia
por: Regensburger, Martin, et al.
Publicado: (2022)