Randall C. Mazzarino

Resilience to autosomal dominant Alzheimer’s disease in a Reelin-COLBOS heterozygous man

Francisco Lopera, Claudia Mariño, Anita Chandrahas et al. · Nature Medicine · 2023 · 179 citations · Full text

Protocatechuic Acid Extends Survival, Improves Motor Function, Diminishes Gliosis, and Sustains Neuromuscular Junctions in the hSOD1G93A Mouse Model of Amyotrophic Lateral Sclerosis

Lilia A. Koza, Aimee N. Winter, Jessica M. Holsopple et al. · Nutrients · 2020 · 30 citations · Full text

Lipid Peroxidation, Skeletal Muscle Atrophy, Diminishes Gliosis +17

Reduced purine biosynthesis in humans after their divergence from Neandertals

Vita V. Stepanova, Kaja Ewa Moczulska, Guido N. Vacano et al. · eLife · 2021 · 24 citations · Full text

Genetics, Metabolomic Profiling, Amino Acid Substitution +19

APOE3 Christchurch modulates β-catenin/Wnt signaling in iPS cell-derived cerebral organoids from Alzheimer’s cases

Paula Perez‐Corredor, Timothy E. Vanderleest, Guido N. Vacano et al. · Frontiers in Molecular Neuroscience · 2024 · 22 citations · Full text

The CRISPR-Cas9 crADSL HeLa transcriptome: A first step in establishing a model for ADSL deficiency and SAICAR accumulation

Randall C. Mazzarino, Veronika Barešová, Marie Zikánová et al. · Molecular Genetics and Metabolism Reports · 2019 · 16 citations · Full text