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Article

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.

Genes - 23 Jun 2023

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

Abstract excerpt

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 ELISA kit, while DA levels and its metabolites in the CSF, 3,4-dihydroxyphenylacetic acid (DOPAC), Cys-DA, and...

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Identifiers

PMID: 37510225
DOI: 10.3390/genes14071320
PMCID: PMC10379220

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