Thermozymes: adaptive strategies and tools for their biotechnological applications

S Kumar, AK Dangi, P Shukla, D Baishya… - Bioresource …, 2019 - Elsevier
In today's scenario of global climate change, there is a colossal demand for sustainable
industrial processes and enzymes from thermophiles. Plausibly, thermozymes are an …

Genome editing in iPSC-based neural systems: from disease models to future therapeutic strategies

A McTague, G Rossignoli, A Ferrini, S Barral… - Frontiers in Genome …, 2021 - frontiersin.org
Therapeutic advances for neurological disorders are challenging due to limited accessibility
of the human central nervous system and incomplete understanding of disease …

Human in vitro models of epilepsy using embryonic and induced pluripotent stem cells

MS Javaid, T Tan, N Dvir, A Anderson, T J. O'Brien… - Cells, 2022 - mdpi.com
The challenges in making animal models of complex human epilepsy phenotypes with
varied aetiology highlights the need to develop alternative disease models that can address …

SCN1A variants from bench to bedside—improved clinical prediction from functional characterization

A Brunklaus, S Schorge, AD Smith, I Ghanty… - Human …, 2020 - Wiley Online Library
Variants in the SCN1A gene are associated with a wide range of disorders including genetic
epilepsy with febrile seizures plus (GEFS+), familial hemiplegic migraine (FHM), and the …

Application of induced pluripotent stem cells in epilepsy

S Hirose, Y Tanaka, M Shibata, Y Kimura… - Molecular and Cellular …, 2020 - Elsevier
Epilepsy is among the most common neurological disorders, affecting approximately 50
million people worldwide. Importantly, epilepsy is genetically and etiologically …

Recent advances and current status of gene therapy for epilepsy

AJ Cai, K Gao, F Zhang, YW Jiang - World Journal of Pediatrics, 2024 - Springer
Background Epilepsy is a common neurological disorder with complex pathogenic
mechanisms, and refractory epilepsy often lacks effective treatments. Gene therapy is a …

Concise Review: Stem Cell Models of SCN1A-Related Encephalopathies—Current Perspective and Future Therapies

V Zayat, R Szlendak, D Hoffman-Zacharska - Cells, 2022 - mdpi.com
Mutations in the SCN1A gene can cause a variety of phenotypes, ranging from mild forms,
such as febrile seizures and generalized epilepsy with febrile seizures plus, to severe, such …

Inhibitory synaptic transmission is impaired at higher extracellular Ca2+ concentrations in Scn1a+/− mouse model of Dravet syndrome

K Uchino, H Kawano, Y Tanaka, Y Adaniya… - Scientific reports, 2021 - nature.com
Dravet syndrome (DS) is an intractable form of childhood epilepsy that occurs in infancy.
More than 80% of all patients have a heterozygous abnormality in the SCN1A gene, which …

A versatile toolbox for knock-in gene targeting based on the Multisite Gateway technology

S Yoshimatsu, T Sone, M Nakajima, T Sato, R Okochi… - PloS one, 2019 - journals.plos.org
Knock-in (KI) gene targeting can be employed for a wide range of applications in stem cell
research. However, vectors for KI require multiple complicated processes for construction …

In vitro human cell culture models in a bench‐to‐bedside approach to epilepsy

Š Danačíková, B Straka, J Daněk, V Kořínek… - Epilepsia …, 2024 - Wiley Online Library
Epilepsy is the most common chronic neurological disease, affecting nearly 1%–2% of the
world's population. Current pharmacological treatment and regimen adjustments are aimed …