Structural properties and interaction partners of familial ALS-associated SOD1 mutants

J Huai, Z Zhang - Frontiers in neurology, 2019 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is the most common motor neuron degenerative disease
in adults and has also been proven to be a type of conformational disease associated with …

Expanding the stdpopsim species catalog, and lessons learned for realistic genome simulations

ME Lauterbur, MIA Cavassim, AL Gladstein, G Gower… - Elife, 2023 - elifesciences.org
Simulation is a key tool in population genetics for both methods development and empirical
research, but producing simulations that recapitulate the main features of genomic datasets …

Toward precision medicine in neurological diseases

L Tan, T Jiang, L Tan, JT Yu - Annals of translational medicine, 2016 - pmc.ncbi.nlm.nih.gov
Technological development has paved the way for accelerated genomic discovery and is
bringing precision medicine into view. The goal of precision medicine is to deliver optimally …

[HTML][HTML] Learning dynamic Bayesian networks from time-dependent and time-independent data: Unraveling disease progression in Amyotrophic Lateral Sclerosis

T Leão, SC Madeira, M Gromicho… - Journal of Biomedical …, 2021 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease causing patients to
quickly lose motor neurons. The disease is characterized by a fast functional impairment and …

RNA editing and retrotransposons in neurology

H Krestel, JC Meier - Frontiers in molecular neuroscience, 2018 - frontiersin.org
Compared to sites in protein-coding sequences many more targets undergoing adenosine
to inosine (A-to-I) RNA editing were discovered in non-coding regions of human cerebral …

ZNStress: a high-throughput drug screening protocol for identification of compounds modulating neuronal stress in the transgenic mutant sod1G93R zebrafish model …

A McGown, DPJ Shaw, T Ramesh - Molecular Neurodegeneration, 2016 - Springer
Background Amyotrophic lateral sclerosis (ALS) is a lethal neurodegenerative disease with
death on average within 2–3 years of symptom onset. Mutations in superoxide dismutase 1 …

Refining in vitro and in silico neurotoxicity approaches by accounting for interspecies and interindividual differences in toxicodynamics

EEJ Kasteel, RHS Westerink - Expert Opinion on Drug Metabolism …, 2021 - Taylor & Francis
Introduction The process of chemical risk assessment traditionally relies on animal
experiments and associated default uncertainty factors to account for interspecies and …

The use of botulinum neurotoxin type A in aesthetics: key clinical postulates

MS Nestor, RE Kleinfelder, A Pickett - Dermatologic Surgery, 2017 - journals.lww.com
BACKGROUND The most common aesthetic procedure performed worldwide is the injection
of botulinum neurotoxin Type A (BoNT-A). Aesthetic providers must fully comprehend the …

Amyotrophic lateral sclerosis: current therapeutic perspectives

V Kumar, T Kashav, MI Hassan - Pathology, prevention and therapeutics …, 2019 - Springer
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease, characterized by
progressive motor neuron degeneration, muscle weakness, paralysis, and ultimately death …

CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual

Y Yun, SA Hong, KK Kim, D Baek, D Lee… - Communications …, 2020 - nature.com
Amyotrophic lateral sclerosis (ALS) is a severe disease causing motor neuron death, but a
complete cure has not been developed and related genes have not been defined in more …