Organs to Cells and Cells to Organoids: The Evolution of in vitro Central Nervous System Modelling

D Pacitti, R Privolizzi, BE Bax - Frontiers in cellular neuroscience, 2019 - frontiersin.org
With 100 billion neurons and 100 trillion synapses, the human brain is not just the most
complex organ in the human body, but has also been described as “the most complex thing …

Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies

KR Sabitha, AK Shetty, D Upadhya - Neuroscience & Biobehavioral …, 2021 - Elsevier
The pathological alterations that manifest during the early embryonic development due to
inherited and acquired factors trigger various neurodevelopmental disorders (NDDs) …

Generation of serotonin neurons from human pluripotent stem cells

J Lu, X Zhong, H Liu, L Hao, CTL Huang… - Nature …, 2016 - nature.com
Serotonin neurons located in the raphe nucleus of the hindbrain have crucial roles in
regulating brain functions and have been implicated in various psychiatric disorders. Yet …

Loss of motoneuron-specific microRNA-218 causes systemic neuromuscular failure

ND Amin, G Bai, JR Klug, D Bonanomi, MT Pankratz… - Science, 2015 - science.org
Dysfunction of microRNA (miRNA) metabolism is thought to underlie diseases affecting
motoneurons. One miRNA, miR-218, is abundantly and selectively expressed by developing …

Cell cycle inhibitors protect motor neurons in an organoid model of spinal muscular atrophy

JH Hor, ESY Soh, LY Tan, VJW Lim, MM Santosa… - Cell death & …, 2018 - nature.com
Abstract Spinal Muscular Atrophy (SMA) is caused by genetic mutations in the SMN1 gene,
resulting in drastically reduced levels of Survival of Motor Neuron (SMN) protein. Although …

Mitochondrial defects in the respiratory complex I contribute to impaired translational initiation via ROS and energy homeostasis in SMA motor neurons

MP Thelen, B Wirth, MJ Kye - Acta neuropathologica communications, 2020 - Springer
Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by loss of lower
motor neurons, which leads to proximal muscle weakness and atrophy. SMA is caused by …

Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy

EJN Groen, E Perenthaler, NL Courtney… - Human Molecular …, 2018 - academic.oup.com
Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by
deleterious variants in SMN1 that lead to a marked decrease in survival motor neuron (SMN) …

Discovery of a CNS penetrant small molecule SMN2 splicing modulator with improved tolerability for spinal muscular atrophy

S Ando, S Suzuki, S Okubo, K Ohuchi, K Takahashi… - Scientific reports, 2020 - nature.com
Spinal muscular atrophy (SMA) is a motor neuron disease, typically resulting from loss-of-
function mutations in the survival motor neuron 1 (SMN1) gene. Nusinersen/SPINRAZA, a …

Seamless Genetic Conversion of SMN2 to SMN1 via CRISPR/Cpf1 and Single-Stranded Oligodeoxynucleotides in Spinal Muscular Atrophy Patient-Specific Induced …

M Zhou, Z Hu, L Qiu, T Zhou, M Feng, Q Hu… - Human gene …, 2018 - liebertpub.com
Spinal muscular atrophy (SMA) is a kind of neuromuscular disease characterized by
progressive motor neuron loss in the spinal cord. It is caused by mutations in the survival …

Cerebellar structural, astrocytic, and neuronal abnormalities in the SMNΔ7 mouse model of spinal muscular atrophy

NC Cottam, T Bamfo, MA Harrington… - Brain …, 2023 - Wiley Online Library
Spinalmuscular atrophy (SMA) is a neuromuscular disease that affects as many as 1 in 6000
individuals at birth, making it the leading genetic cause of infant mortality. A growing number …