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Quantitative Analysis of Mitochondria-Associated Endoplasmic Reticulum Membrane (MAM) Stabilization in a Neural Model of Alzheimer's Disease (AD).
J Vis Exp
January 2025
Genetics and Aging Research Unit, MassGeneral Institute for Neurodegenerative Disease, Henry and Allison McCance Center for Brain Health, Department of Neurology, Massachusetts General Hospital, Harvard Medical School;
A method to quantitate the stabilization of Mitochondria-Associated endoplasmic reticulum Membranes (MAMs) in a 3-dimensional (3D) neural model of Alzheimer's disease (AD) is presented here. To begin, fresh human neuro progenitor ReN cells expressing β-amyloid precursor protein (APP) containing familial Alzheimer's disease (FAD) or naïve ReN cells are grown in thin (1:100) Matrigel-coated tissue culture plates. After the cells reach confluency, these are electroporated with expression plasmids encoding red fluorescence protein (RFP)-conjugated mitochondria-binding sequence of AKAP1(34-63) (Mito-RFP) that detects mitochondria or constitutive MAM stabilizers MAM 1X or MAM 9X that stabilize tight (6 nm ± 1 nm gap width) or loose (24 nm ± 3 nm gap width) MAMs, respectively.
View Article and Find Full Text PDFDeveloping and Implementing an Integrated Family Education Program (IPMD-F) for Parents of Children With Reading Difficulties: Insights From an Action Research Study.
Brain Behav
January 2025
Faculty of Health Sciences, Child Development Department, Hacettepe University, Ankara, Turkey.
Purpose: This research aims to identify the problems and needs of families of children with reading difficulties, develop an Integrated Process-Based Family Education Program (IPMD-F) to address these needs, and implement it.
Methods: The study used a community-based participatory action research approach, following a four-stage process: general information collection, needs identification and action plan creation, development and implementation of the IPMD-F, and evaluation. Conducted during the 2023-2024 academic year in Ankara, Turkey, with 16 volunteer parents of children diagnosed with learning disabilities, data were collected using qualitative and quantitative tools.
The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease.
Eur J Neurol
February 2025
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Background: The p.A53T variant in the SNCA gene was considered, until recently, to be the only SNCA variant causing familial Parkinson's disease (PD) in the Greek population. We identified a novel heterozygous p.
View Article and Find Full Text PDFExecutive function profiles in survivors of neonatal critical illness - a latent profile analysis in school-aged children born very preterm or with complex congenital heart disease and in typically developing peers.
Child Neuropsychol
January 2025
Child Development Center, University Children's Hospital Zurich, Zurich, Switzerland.
Executive function (EF) impairments are prevalent in survivors of neonatal critical illness such as children born very preterm (VPT) or with complex congenital heart disease (cCHD). This paper aimed to describe EF profiles in school-aged children born VPT or with cCHD and in typically developing peers, to identify child-specific and family-environmental factors associated with these profiles and to explore links to everyday-life outcomes. Data from eight EF tests assessing working memory, inhibition, cognitive flexibility, switching, and planning in = 529 children aged between 7 and 16 years was subjected into a latent profile analysis.
View Article and Find Full Text PDFRefractory Psychosis as a Red Flag for End of Life in Individuals With Dementia With Lewy Bodies: A Case Series and Re-analysis of Prior Qualitative Data.
Alzheimer Dis Assoc Disord
January 2025
Department of Psychiatry, University of Michigan, Ann Arbor, MI.
Objectives: Many individuals with dementia with Lewy bodies (DLB) die of disease-related complications, but predicting the end of life can be challenging. We identified a phenotype associated with approaching end of life.
Methods: We present 4 exemplar cases where individuals with DLB experienced refractory psychosis before death.
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