Maria Iuliano

Neurexins Mediate α-synuclein Pathology Propagation and Contribute to Synaptic Vulnerability

Maria Iuliano, Thomas Biederer

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ESC derived human cortical neurons harboring the NACC1 c.892C > T p.R298W missense mutation exhibit molecular differences from controls that influence neuronal maturation

Mark Deehan, Ellen Sapp, Andrew Iwanowicz, Josine Marie Kothuis et autres

A de novo mutation in the transcription factor Nucleus accumbens associated protein 1 (NACC1) gene (c.892C > T p.R298W) causes a rare, severe neurodevelopmental disorder which manifests postnatally. Genome editing was used to generate human isogenic ESCs (control, mutant heterozygote and homozygote …

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Current safety recommendations for handling mouse and human αsynuclein pre-formed fibrils

Lauren Fielding, Marissa Menard, Maria Iuliano, Benjamin Dehay et autres

α-Synuclein (α-syn) can form amyloid fibrils. Lewy bodies and Lewy neurites containing aggregated α-syn are pathological markers of Parkinson's Disease and Dementia with Lewy Bodies. To better understand the role of pathological α-syn in disease, many labs use α-syn preformed fibrils (PFFs). …

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A complex of the lipid transport ER proteins TMEM24 and C2CD2 with band 4.1 at cell–cell contacts

Ben Johnson, Maria Iuliano, TuKiet T. Lam, Thomas Biederer et autres

Junctions between the ER and plasma membrane (PM) are implicated in calcium homeostasis, non-vesicular lipid transfer, and other cellular functions. Two ER proteins that function both as tethers to the PM via a polybasic C-terminus motif and as phospholipid transporters are brain-enriched …

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Fixation and immunocytochemistry (fluorescence) in PFF-treated cultures v2

Maria Iuliano

This protocol outlines methods used for the preparation of in vitro models for fluorescent imaging including primary rat and mouse hippocampal cultures treated with PFFs.

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Nacc1 Mutation in Mice Models Rare Neurodevelopmental Disorder with Underlying Synaptic Dysfunction

Mark Deehan, Josine Marie Kothuis, Ellen Sapp, Kathryn Chase et autres

A missense mutation in the transcription repressor Nucleus accumbens-associated 1 ( NACC1 ) gene at c.892C>T (p.Arg298Trp) on chromosome 19 causes severe neurodevelopmental delay ( Schoch et al., 2017). To model this disorder, we engineered the first mouse model with the homologous …

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A complex of the lipid transport ER proteins TMEM24 and C2CD2 with band 4.1 at cell-cell contacts

Ben Johnson, Maria Iuliano, TuKiet T. Lam, Thomas Biederer et autres

ABSTRACT Junctions between the ER and the plasma membrane (ER/PM junctions) are implicated in calcium homeostasis, non-vesicular lipid transfer and other cellular functions. Two ER proteins that function both as membrane tethers to the PM via a polybasic motif in their C-terminus …

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Disposition of Proteins and Lipids in Synaptic Membrane Compartments Is Altered in Q175/Q7 Huntington’s Disease Mouse Striatum

Maria Iuliano, Connor Seeley, Ellen Sapp, Erin L. Jones et autres

Dysfunction at synapses is thought to be an early change contributing to cognitive, psychiatric and motor disturbances in Huntington’s disease (HD). In neurons, mutant Huntingtin collects in aggregates and distributes to the same sites as wild-type Huntingtin including on membranes and in …

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Protein changes in synaptosomes of Huntington's disease knock-in mice are dependent on age and brain region

Ellen Sapp, Connor Seeley, Maria Iuliano, Elizabeth Weisman et autres

Molecular changes at synapses are thought to underly the deficits in motor and cognitive dysfunction seen in Huntington's disease (HD). Previously we showed in synaptosome preparations age dependent changes in levels of selected proteins examined by western blot assay in the striatum …

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Huntingtin associates with the actin cytoskeleton and α-actinin isoforms to influence stimulus dependent morphology changes

Adelaide Tousley, Maria Iuliano, Elizabeth Weisman, Ellen Sapp et autres

One response of cells to growth factor stimulus involves changes in morphology driven by the actin cytoskeleton and actin associated proteins which regulate functions such as cell adhesion, motility and in neurons, synaptic plasticity. Previous studies suggest that Huntingtin may be involved …

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Rac1 Activity Is Modulated by Huntingtin and Dysregulated in Models of Huntington’s Disease

Adelaide Tousley, Maria Iuliano, Elizabeth Weisman, Ellen Sapp et autres

BACKGROUND: Previous studies suggest that Huntingtin, the protein mutated in Huntington's disease (HD), is required for actin based changes in cell morphology, and undergoes stimulus induced targeting to plasma membranes where it interacts with phospholipids involved in cell signaling. The small GTPase …

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Hippo Signaling Pathway Dysregulation in Human Huntington’s Disease Brain and Neuronal Stem Cells

Kaly A. Mueller, Kelly E. Glajch, Megan N. Huizenga, Remi A. Wilson et autres

Abstract The Hippo signaling pathway is involved in organ size regulation and tumor suppression. Although inhibition of Hippo leads to tumorigenesis, activation of Hippo may play a role in neurodegeneration. Specifically, activation of the upstream regulator, mammalian sterile 20 (STE20)-like kinase 1 …

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