CRISPR/Cas9 genome editing for neurodegenerative diseases

JN Nojadeh, NSB Eryilmaz, Bİ Ergüder - EXCLI journal, 2023 - pmc.ncbi.nlm.nih.gov
Gene therapy has emerged as a promising therapeutic strategy for various conditions,
including blood disorders, ocular disease, cancer, and nervous system disorders. The …

Improving cell recovery: freezing and thawing optimization of induced pluripotent stem cells

M Uhrig, F Ezquer, M Ezquer - Cells, 2022 - mdpi.com
Achieving good cell recovery after cryopreservation is an essential process when working
with induced pluripotent stem cells (iPSC). Optimized freezing and thawing methods are …

Modeling Parkinson's disease pathology in human dopaminergic neurons by sequential exposure to α-synuclein fibrils and proinflammatory cytokines

A Bayati, R Ayoubi, A Aguila, CE Zorca, G Deyab… - Nature …, 2024 - nature.com
Abstract Lewy bodies (LBs), α-synuclein-enriched intracellular inclusions, are a hallmark of
Parkinson's disease (PD) pathology, yet a cellular model for LB formation remains elusive …

Tom20 gates PINK1 activity and mediates its tethering of the TOM and TIM23 translocases upon mitochondrial stress

MA Eldeeb, AN Bayne, A Fallahi, T Goiran… - Proceedings of the …, 2024 - pnas.org
Mutations in PTEN-induced putative kinase 1 (PINK1) cause autosomal recessive early-
onset Parkinson's disease (PD). PINK1 is a Ser/Thr kinase that regulates mitochondrial …

The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic …

J Jones-Tabah, K He, N Karpilovsky… - Molecular …, 2024 - Springer
Background Variants in the CTSB gene encoding the lysosomal hydrolase cathepsin B
(catB) are associated with increased risk of Parkinson's disease (PD). However, neither the …

An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders

MF Dorion, D Casas, I Shlaifer, M Yaqubi… - Molecular …, 2024 - Springer
Background Induced pluripotent stem cell-derived microglia (iMGL) represent an excellent
tool in studying microglial function in health and disease. Yet, since differentiation and …

MerTK is a mediator of alpha-synuclein fibril uptake by human microglia

MF Dorion, M Yaqubi, K Senkevich, NW Kieran… - Brain, 2024 - academic.oup.com
Mer tyrosine kinase (MerTK) is a receptor tyrosine kinase that mediates non-inflammatory,
homeostatic phagocytosis of diverse types of cellular debris. Highly expressed on the …

An optimized workflow to generate and characterize iPSC-derived motor neuron (MN) spheroids

MJ Castellanos-Montiel, M Chaineau… - Cells, 2023 - mdpi.com
A multitude of in vitro models based on induced pluripotent stem cell (iPSC)-derived motor
neurons (MNs) have been developed to investigate the underlying causes of selective MN …

Combining NGN2 programming and dopaminergic patterning for a rapid and efficient generation of hiPSC-derived midbrain neurons

R Sheta, M Teixeira, W Idi, M Pierre… - Scientific Reports, 2022 - nature.com
The use of human derived induced pluripotent stem cells (hiPSCs) differentiated to
dopaminergic (DA) neurons offers a valuable experimental model to decorticate the cellular …

A streamlined CRISPR workflow to introduce mutations and generate isogenic iPSCs for modeling amyotrophic lateral sclerosis

E Deneault, M Chaineau, M Nicouleau, MJC Montiel… - Methods, 2022 - Elsevier
Amyotrophic lateral sclerosis (ALS) represents a complex neurodegenerative disorder with
significant genetic heterogeneity. To date, both the genetic etiology and the underlying …