Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies
The pathological alterations that manifest during the early embryonic development due to
inherited and acquired factors trigger various neurodevelopmental disorders (NDDs) …
inherited and acquired factors trigger various neurodevelopmental disorders (NDDs) …
Drug screening and drug repositioning as promising therapeutic approaches for spinal muscular atrophy treatment
Spinal muscular atrophy (SMA) is the most common genetic disease affecting infants and
young adults. Due to mutation/deletion of the survival motor neuron (SMN) gene, SMA is …
young adults. Due to mutation/deletion of the survival motor neuron (SMN) gene, SMA is …
Maturation of human intestinal organoids in vitro facilitates colonization by commensal lactobacilli by reinforcing the mucus layer
Lactobacilli, which are probiotic commensal bacteria that mainly reside in the human small
intestine, have attracted attention for their ability to exert health‐promoting effects and …
intestine, have attracted attention for their ability to exert health‐promoting effects and …
RNA-targeted therapies and high-throughput screening methods
S Zhu, S Rooney, G Michlewski - International Journal of Molecular …, 2020 - mdpi.com
RNA-binding proteins (RBPs) are involved in regulating all aspects of RNA metabolism,
including processing, transport, translation, and degradation. Dysregulation of RNA …
including processing, transport, translation, and degradation. Dysregulation of RNA …
Therapeutic interventions for spinal muscular atrophy: preclinical and early clinical development opportunities
Introduction Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative
neuromuscular disease that presents primarily in children. Abnormalities in the SMN1 gene …
neuromuscular disease that presents primarily in children. Abnormalities in the SMN1 gene …
Exploring motor neuron diseases using iPSC platforms
AE Johns, NJ Maragakis - Stem Cells, 2022 - academic.oup.com
The degeneration of motor neurons is a pathological hallmark of motor neuron diseases
(MNDs), but emerging evidence suggests that neuronal vulnerability extends well beyond …
(MNDs), but emerging evidence suggests that neuronal vulnerability extends well beyond …
In vitro modeling as a tool for testing therapeutics for spinal muscular atrophy and IGHMBP2-related disorders
Simple Summary Spinal Muscular Atrophy (SMA) is a genetic disease that can cause infant
mortality. It is typically caused by mutations in the SMN1 gene. On the other hand, mutations …
mortality. It is typically caused by mutations in the SMN1 gene. On the other hand, mutations …
Stem cell models and gene targeting for human motor neuron diseases
Motor neurons are large projection neurons classified into upper and lower motor neurons
responsible for controlling the movement of muscles. Degeneration of motor neurons results …
responsible for controlling the movement of muscles. Degeneration of motor neurons results …
Spinal muscular atrophy modeling and treatment advances by induced pluripotent stem cells studies
R Adami, D Bottai - Stem Cell Reviews and Reports, 2019 - Springer
Abstract Spinal Muscular Atrophy (SMA) is a neurodegenerative disease characterized by
specific and predominantly lower motor neuron (MN) loss. SMA is the main reason for infant …
specific and predominantly lower motor neuron (MN) loss. SMA is the main reason for infant …
Primary Coenzyme Q10 Deficiency-7 and Pathogenic COQ4 Variants: Clinical Presentation, Biochemical Analyses, and Treatment
J **e, J Jiang, Q Guo - Frontiers in Genetics, 2022 - frontiersin.org
Primary Coenzyme Q10 Deficiency-7 (COQ10D7) is a rare mitochondrial disorder caused by
pathogenic COQ4 variants. In this review, we discuss the correlation of COQ4 genotypes …
pathogenic COQ4 variants. In this review, we discuss the correlation of COQ4 genotypes …