Rett syndrome: a neurological disorder with metabolic components

SM Kyle, N Vashi, MJ Justice - Open biology, 2018 - royalsocietypublishing.org
Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene
methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator …

A framework for the investigation of rare genetic disorders in neuropsychiatry

SJ Sanders, M Sahin, J Hostyk, A Thurm… - Nature medicine, 2019 - nature.com
De novo and inherited rare genetic disorders (RGDs) are a major cause of human morbidity,
frequently involving neuropsychiatric symptoms. Recent advances in genomic technologies …

[HTML][HTML] How to fail with paired VNS therapy

SA Hays, RL Rennaker II, MP Kilgard - Brain stimulation, 2023 - Elsevier
Vagus nerve stimulation (VNS) has gained enormous traction as a promising bioelectronic
therapy. In particular, the delivery of VNS paired with training to promote neural changes has …

Treating Rett syndrome: from mouse models to human therapies

N Vashi, MJ Justice - Mammalian Genome, 2019 - Springer
Rare diseases are very difficult to study mechanistically and to develop therapies for
because of the scarcity of patients. Here, the rare neuro-metabolic disorder Rett syndrome …

Cerebral organoids as tools to identify the developmental roots of autism

WK Chan, R Griffiths, DJ Price, JO Mason - Molecular autism, 2020 - Springer
Some autism spectrum disorders (ASD) likely arise as a result of abnormalities during early
embryonic development of the brain. Studying human embryonic brain development directly …

Rat models of human diseases and related phenotypes: a systematic inventory of the causative genes

C Szpirer - Journal of biomedical science, 2020 - Springer
The laboratory rat has been used for a long time as the model of choice in several
biomedical disciplines. Numerous inbred strains have been isolated, displaying a wide …

[HTML][HTML] Understanding autism spectrum disorders with animal models: applications, insights, and perspectives

Z Li, YX Zhu, LJ Gu, Y Cheng - Zoological research, 2021 - ncbi.nlm.nih.gov
Autism spectrum disorder (ASD) is typically characterized by common deficits in social skills
and repetitive/stereotyped behaviors. It is widely accepted that genetic and environmental …

Vagus nerve stimulation as a potential adjuvant to behavioral therapy for autism and other neurodevelopmental disorders

CT Engineer, SA Hays, MP Kilgard - Journal of neurodevelopmental …, 2017 - Springer
Background Many children with autism and other neurodevelopmental disorders undergo
expensive, time-consuming behavioral interventions that often yield only modest …

Experimental models to study autism spectrum disorders: hiPSCs, rodents and zebrafish

A Pensado-López, S Veiga-Rúa, Á Carracedo… - Genes, 2020 - mdpi.com
Autism Spectrum Disorders (ASD) affect around 1.5% of the global population, which
manifest alterations in communication and socialization, as well as repetitive behaviors or …

Neuronal cytoskeletal gene dysregulation and mechanical hypersensitivity in a rat model of Rett syndrome

A Bhattacherjee, Y Mu, MK Winter… - Proceedings of the …, 2017 - National Acad Sciences
Children with Rett syndrome show abnormal cutaneous sensitivity. The precise nature of
sensory abnormalities and underlying molecular mechanisms remain largely unknown. Rats …