LRRK2 I1371V Mutation: Unraveling Pathogenic Mechanisms in Dopaminergic Neurons via Membrane Fluidity & Calcium Dysregulation using PD Patient iPSCs
Objective: To estimate pathogenicity of LRRK2 I1371V mutation in PD patient iPSC-derived DA-neurons & assess underlying disease mechanisms involving membrane fluidity, Ca2+ dysregulation, & Rab8A/Rab10…iPSC-Based Modeling of SCA12 for Targeted Therapeutic Screening
Objective: 1. To identify a cohort of genetically confirmed SCA12 patients of Indian origin, derive iPSCs, progenitor cells and neurons from peripheral blood samples2. To…A Homozygous Variant in NAA60 is Associated with Primary Familial Brain Calcification
Objective: To identify novel genes in autosomal recessive Primary Familial Brain Calcifications (PFBC).To identify novel genes in autosomal recessive Primary Familial Brain Calcifications (PFBC). Background:…Cardiovascular Risk Profile in Patients with Primary Familial Brain Calcification
Objective: To explore the cardiovascular risk profile of patients with Primary Familial Brain Calcification (PFBC) and Fahr’s syndrome. Background: PFBC, also known as Fahr’s disease,…Miniscope-based neural circuit profiling in freely behaving animals for preclinical therapeutic assessment
Objective: To advance translational research by revealing detailed relationships between neural circuit activity and behavioural symptoms in preclinical models Background: Conventional preclinical tests for CNS…PFBC and dystonia: description of a cohort and peculiar cases
Objective: To describe dystonia in a PFBC cohort Background: Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by calcium deposition in basal…Tongue fasciculations and numbness: A case of calcifying pseudoneoplasm
Objective: To describe a 61-year-old female who presents with abnormal tongue movement found to have right frontoparietal calcifying pseudoneoplasm of the neuraxis (CAPNON). Background: CAPNON…Representation of movement repertoire in subthalamic neural circuits using a markerless 3D behavioral tracking system.
Objective: This study aimed to investigate the spatiotemporal encoding of neurons in the subthalamic nucleus using a mouse model. Background: The subthalamic nucleus is a…Quantitative investigation of the pathway between dopamine receptors and Ca2+ channels in layer II stellate cells towards Parkinson’s disease
Objective: Recent experimental data suggest a putative coupling between dopamine D2 receptors (D2R) and T-type Ca2+ channels as another biophysical explanation for the firing pattern…Impaired CaMKII/ERK activation in mouse mutant LRRK2 R1441G fibroblasts was associated with reduced mitochondrial calcium store and efflux in response to depolarization stress
Objective: To determine the molecular link of LRRK2R1441G mutation to impaired CaMKII/ERK signaling under mitochondrial depolarization stress using mutant mouse embryonic fibroblast (MEF) model of…
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