Lysosomal storage diseases: current therapies and future alternatives

AF Leal, AJ Espejo-Mojica, OF Sánchez… - Journal of Molecular …, 2020 - Springer
Lysosomal storage disorders (LSDs) are a group of monogenic diseases characterized by
progressive accumulation of undegraded substrates into the lysosome, due to mutations in …

Lysosomal acid lipase and lipid metabolism: new mechanisms, new questions, and new therapies

H Zhang - Current opinion in lipidology, 2018 - journals.lww.com
Lysosomal acid lipase and lipid metabolism: new mechanisms,... : Current Opinion in
Lipidology Lysosomal acid lipase and lipid metabolism: new mechanisms, new questions, and …

ASEP: Gene-based detection of allele-specific expression across individuals in a population by RNA sequencing

J Fan, J Hu, C Xue, H Zhang, K Susztak, MP Reilly… - PLoS …, 2020 - journals.plos.org
Allele-specific expression (ASE) analysis, which quantifies the relative expression of two
alleles in a diploid individual, is a powerful tool for identifying cis-regulated gene expression …

Low LAL (lysosomal acid lipase) expression by smooth muscle cells relative to macrophages as a mechanism for arterial foam cell formation

JA Dubland, S Allahverdian, KJ Besler… - … , and vascular biology, 2021 - Am Heart Assoc
Objective: We previously reported smooth muscle cells (SMCs) represent≥ 50% of foam
cells in human coronary and≈ 70% in apoE (apolipoprotein E)-deficient mouse aortic …

CRISPR–Cas9 delivery strategies for the modulation of immune and non-immune cells

SK Alsaiari, B Eshaghi, B Du, M Kanelli, G Li… - Nature Reviews …, 2024 - nature.com
CRISPR–Cas9 genome editing technology is a promising tool for genetically engineering
immune cells and modulating immune systems. Although ex vivo genome editing of immune …

Macrophages derived from human induced pluripotent stem cells: the diversity of protocols, future prospects, and outstanding questions

I Lyadova, T Gerasimova, T Nenasheva - Frontiers in Cell and …, 2021 - frontiersin.org
Macrophages (Mφ) derived from induced pluripotent stem cells (iMphs) represent a novel
and promising model for studying human Mφ function and differentiation and developing …

Genome-wide CRISPR/Cas9-knockout in human induced pluripotent stem cell (iPSC)-derived macrophages

E Navarro-Guerrero, C Tay, JP Whalley, SA Cowley… - Scientific reports, 2021 - nature.com
Genome engineering using CRISPR/Cas9 technology enables simple, efficient and precise
genomic modifications in human cells. Conventional immortalized cell lines can be easily …

Recent Advances in CRISPR/Cas9 Delivery Approaches for Therapeutic Gene Editing of Stem Cells

M Lotfi, D Morshedi Rad, SS Mashhadi… - Stem cell reviews and …, 2023 - Springer
Rapid advancement in genome editing technologies has provided new promises for treating
neoplasia, cardiovascular, neurodegenerative, and monogenic disorders. Recently, the …

iPSC-derived macrophages: The differentiation protocol affects cell immune characteristics and differentiation trajectories

A Klepikova, T Nenasheva, O Sheveleva… - International Journal of …, 2022 - mdpi.com
The generation of human macrophages from induced pluripotent stem cells (iMacs) is a
rapidly developing approach used to create disease models, screen drugs, study …

CRISPRroots: on- and off-target assessment of RNA-seq data in CRISPR–Cas9 edited cells

GI Corsi, VP Gadekar, J Gorodkin… - Nucleic Acids …, 2022 - academic.oup.com
The CRISPR-Cas9 genome editing tool is used to study genomic variants and gene
knockouts, and can be combined with transcriptomic analyses to measure the effects of such …