Rett syndrome: a neurological disorder with metabolic components
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 …
methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator …
[HTML][HTML] How to fail with paired VNS therapy
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 …
therapy. In particular, the delivery of VNS paired with training to promote neural changes has …
Treating Rett syndrome: from mouse models to human therapies
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 …
because of the scarcity of patients. Here, the rare neuro-metabolic disorder Rett syndrome …
A framework for the investigation of rare genetic disorders in neuropsychiatry
De novo and inherited rare genetic disorders (RGDs) are a major cause of human morbidity,
frequently involving neuropsychiatric symptoms. Recent advances in genomic technologies …
frequently involving neuropsychiatric symptoms. Recent advances in genomic technologies …
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 …
biomedical disciplines. Numerous inbred strains have been isolated, displaying a wide …
Cerebral organoids as tools to identify the developmental roots of autism
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 …
embryonic development of the brain. Studying human embryonic brain development directly …
Understanding autism spectrum disorders with animal models: applications, insights, and perspectives
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 …
and repetitive/stereotyped behaviors. It is widely accepted that genetic and environmental …
Neuronal cytoskeletal gene dysregulation and mechanical hypersensitivity in a rat model of Rett syndrome
Children with Rett syndrome show abnormal cutaneous sensitivity. The precise nature of
sensory abnormalities and underlying molecular mechanisms remain largely unknown. Rats …
sensory abnormalities and underlying molecular mechanisms remain largely unknown. Rats …
Vagus nerve stimulation as a potential adjuvant to behavioral therapy for autism and other neurodevelopmental disorders
Background Many children with autism and other neurodevelopmental disorders undergo
expensive, time-consuming behavioral interventions that often yield only modest …
expensive, time-consuming behavioral interventions that often yield only modest …
Wfs1-deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration
Wolfram syndrome (WS) is a rare autosomal-recessive disorder that is caused by mutations
in the WFS1 gene and is characterized by juvenile-onset diabetes, optic atrophy, hearing …
in the WFS1 gene and is characterized by juvenile-onset diabetes, optic atrophy, hearing …