Results 161 to 170 of about 538,895 (285)

Evidence of blood–brain barrier dysfunction and CSF immunoglobulin synthesis in Down Syndrome Regression Disorder

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objectives This study sought to evaluate proteomic, metabolomic, and immune signatures in the cerebrospinal fluid of individuals with Down Syndrome Regression Disorder (DSRD). Methods A prospective case–control study comparing proteomic, metabolomic, and immune profiles in individuals with DSRD was performed.
Jonathan D. Santoro   +12 more
wiley   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs   +8 more
wiley   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra   +17 more
wiley   +1 more source

Light‐Triggered Protease‐Mediated Release of Actin‐Bound Cargo from Synthetic Cells

open access: yesAdvanced Biology, EarlyView.
TEV Prtoease‐mediated Releasable Actin‐binding Protein (TRAP) is a protein‐based platform consisting of a cargo tightly bound to reconstituted actin networks in synthetic cells which can be proteolyticly released from the bound actin, followed by its secretion through membrane translocation mediated by a cell‐penetrating peptide.
Mousumi Akter   +3 more
wiley   +1 more source

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