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Muguruza, C.

Publications and source records attributed to Muguruza, C..

3 recordsLinked to original sources

The ALS/FTD-linked protein CHCHD10 associates with the TDP-43 C-terminal domain through a CHCH-helix interface

Aggregation and cytoplasmic mislocalization of TDP-43 are defining features of several neurodegenerative disorders including Amyotrophic Lateral Sclerosis (ALS) and frontotemporal dementia (FTD). Yet the molecular interactions that regulate its transition from reversible assemblies to aggregation-prone states remain poorly understood. CHCHD10 is a mitochondrial protein genetically and pathologically linked to TDP-43 dysfunction, but the molecular basis connecting both proteins has remained unclear. Here, we combine solution Nuclear Magnetic Resonance (NMR) spectroscopy, biophysical assays and cellular imaging to characterize the interaction between human CHCHD10 and the C-terminal region of TDP-43 (TDP-43CTD). CHCHD10 comprises a dynamic N-terminal region and a folded CHCH domain that samples a reversible monomer-dimer equilibrium. Reciprocal NMR titrations show that the CHCH domain binds the conserved hydrophobic helix of TDP-43CTD through a dynamic submicromolar interaction that overlaps with self-association surfaces in both proteins. CHCHD10 alters the formation of ThT-reactive TDP-43CTD assemblies and reduces TDP-43CTD sedimentation under selected stoichiometric conditions, while itself becoming enriched in the sedimentable fraction. Equilibrium calculations, independently reproduced using a complete numerical mass-balance solution, identify the initial non-homodimeric CHCHD10 population as the strongest predictor of its subsequent sedimentation. In cells, full-length CHCHD10 shows stronger CHCH-dependent spatial association with TDP-43 than a construct lacking the CHCH domain. These findings define a CHCH-helix interface that couples homo- and heterotypic assembly equilibria and support an asymmetric interface-buffering model in which CHCHD10 can divert TDP-43CTD from self-association while increasing its own availability for recruitment into sedimentable assemblies.

neuroscience↗

Glucocorticoid receptor dysregulation underlies 5-HT2A receptor-dependent synaptic and behavioral deficits in a mouse neurodevelopmental disorder model

Prenatal environmental insults increase the risk of neurodevelopmental psychiatric conditions in the offspring. Structural modifications of dendritic spines are central to brain development and plasticity. Using maternal immune activation (MIA) as a rodent model of prenatal environmental insult, previous results have reported dendritic structural deficits in the frontal cortex. However, very little is known about the molecular mechanism underlying MIA-induced synaptic structural alterations in the offspring. Using prenatal (E12.5) injection with poly-(I:C) as a mouse MIA model, we show that upregulation of the serotonin 5-HT2A receptor (5-HT2AR) is at least in part responsible for some of the effects of prenatal insults on frontal cortex dendritic spine structure and sensorimotor gating processes. Mechanistically, we report that this upregulation of frontal cortex 5-HT2AR expression is associated with MIA-induced reduction of nuclear translocation of the glucocorticoid receptor (GR) and, consequently, a decrease in the enrichment of GR at the 5-HT2AR promoter. The translational significance of these preclinical findings is supported by data in postmortem human brain samples suggesting dysregulated nuclear GR translocation in frontal cortex of schizophrenia subjects. Repeated (twice a day for 4 days) corticosterone administration augmented frontal cortex 5-HT2AR expression and reduced GR binding to the 5-HT2AR promoter. However, virally (AAV)-mediated augmentation of GR function reduced frontal cortex 5-HT2AR expression and improved sensorimotor gating processes via 5-HT2AR. Together, these data support a negative regulatory relationship between GR signaling and 5-HT2AR expression in mouse frontal cortex that may carry implications for the pathophysiology underlying 5-HT2AR dysregulation in neurodevelopmental psychiatric disorders.

neuroscience↗

A new mutant mouse model lacking mitochondrial-associated CB1 receptor

The idea that the effects of drugs largely depend on subcellular target location is emerging as a novel predictive factor of their beneficial or adverse outcomes. G protein-coupled type-1 cannabinoid receptors (CB1) are regulators of several brain functions as well as the main targets of cannabinoid-based medicines. Besides their classical location at plasma membranes, CB1 receptors are present at different locations within cells, including in association to mitochondrial membranes (mtCB1). Here we report the generation and characterization of a mutant mouse line, which lack mtCB1 receptors.

neuroscience↗