Santini, E., Turner, K.L., Ramaraj, A.B., Klann, E. *, and Kaphzan, H. * (2015) Mitochondrial superoxide contributes to hippocampal synaptic dysfunction and memory deficits in Angelman
syndrome model mice.
Francesco Longo is interested in understanding the synaptic and behavioral abnormalities associated with autism spectrum disorder, with particular attention to striatal dysfunction in fragile X
syndrome model mice.
Not exact matches
To better understand their findings, the team examined the animal
model for APS1 (i.e.
mice with the same genetic defect as human patients with the
syndrome) and found that male
mice spontaneously developed an inflammatory disease in their prostate glands — a so - called prostatitis — and reacted to transglutaminase 4.
Jiang said autism researchers worldwide could use the
mouse model to study ways to compensate for the gene and improve symptoms in people with autism spectrum disorders and Phelan - McDermid
Syndrome, a more profound developmental condition caused by mutations to SHANK3 and other genes in chromosome 22.
Mutation of FAM134B in a
mouse model leads to a similar
syndrome «The mutated protein can not function as a receptor.
«Gene therapy restores hearing in deaf
mice, down to a whisper: Improved delivery vector better penetrates the inner ear, also restores balance in a
mouse model of Usher
syndrome.»
Currently, Deng's laboratory is conducting additional preclinical studies using the human - derived stem cells from Down
syndrome patients and
mouse models to determine whether cellular and behavioral abnormalities can be improved with minocycline therapy and other candidate drugs.
In looking at how cannabidiol affects brain neurons in the Dravet
syndrome mouse model, the researchers observed that it rebalances the ratio of excitation to inhibition in the hippocampus.
«We have developed a
mouse genetic
model of Dravet
syndrome, which is allowing us to probe more deeply into the possible beneficial effects of cannabidiol,» Catterall said.
«The next steps are to fully define the role of the interferon response in the development of Down
syndrome using
mouse models.
Furthermore, without detectable side effects, the peptide protected
mice from chemical - induced colitis that
models irritable bowel
syndrome.
«Our goal was to characterize the development of brain circuits involved in appetite regulation, using a
mouse model for Prader - Willi
syndrome.
With these cells in hand, the researchers injected them into the lacrimal glands of
mouse models of Sjogren's
syndrome, an autoimmune disease that results in ADDE, dry mouth and other symptoms.
Now, in an article published in Disease
Models & Mechanisms, a team from the University of Alabama at Birmingham and Stanford University School of Medicine describe the use of a BDNF loop domain mimetic to improve motor function and object location memory in a
mouse model of Rett
syndrome.
Promising in vitro results led scientists to attempt in vivo tests on a
mouse model carrying Fragile X
Syndrome.
Using a
mouse model of fragile X
syndrome, the researchers recorded the activity of networks of neurons in a living
mouse brain while the animal was both awake and asleep.
Geneticists Thomas Sussan of the Johns Hopkins Bloomberg School of Public Health and Roger Reeves of the Johns Hopkins School of Medicine, both in Baltimore, Maryland, and their colleagues mated
mice prone to colon cancer with
mice commonly used to
model Down
syndrome.
Drugs capable of activating silenced genes improve survival and growth outcomes in a
mouse model of Prader - Willi
syndrome (PWS), a rare and incurable childhood disease, according to a study funded by the National Institutes of Health (NIH).
The kinase activity of RIPK1 mediates hypothermia and lethality in a
mouse model of TNF - induced shock, reflecting the hyperinflammatory state of systemic inflammatory response
syndrome (SIRS), where the proinflammatory «cytokine storm» has long been viewed as detrimental.
The authors unveil a novel
mouse model of chromosome Xq22.1 deletion
syndrome, a human disease characterized by developmental delay, intellectual disability, epilepsy, dysmorphic features, and an X-linked pattern of inheritance.
Tonically active GABA - A receptors and electrical properties of cerebellar granule cells in the Ts65Dn
mouse model of Down
Syndrome
Altered intrathalamic GABAA neurotransmission in a
mouse model of a human genetic absence epilepsy
syndrome.
The cystathionine beta - synthase is necessary and sufficient to induce learning and memory deficits in
mouse models of Down
syndrome
Altered cortical GABAA receptor composition, physiology, and endocytosis in a
mouse model of a human genetic absence epilepsy
syndrome.
Cardiovascular defects in a
mouse model of HOXA1
syndrome.
Inhibition of thrombotic properties of persistent autoimmune anti-B2GPI antibodies in the
mouse model of antiphospholipid
syndrome.
This approach is now being used to derive embryonic stem cells from a variety of strains including disease
models from which in vitro tools are in demand, including
mouse models of Alzheimer's disease, cytogenetic disorders (Turner's
syndrome and Down
syndrome), and tool strains for systems genetics.
As a result of this finding, rapamycin (which inhibits the mTOR nutrient - signaling path - way) was tested in a
mouse model of Leigh
Syndrome.
β2 - glycoprotein - 1 autoantibodies from patients with antiphospholipid
syndrome are sufficient to potentiate arterial thrombus formation in a
mouse model.
These changes are similar to what's been seen in a
mouse model of metabolic
syndrome.
Dosing Animals Via Diet Measuring Food and Water Intake in Rats and
Mice Laboratory Animals - A Critical Part of In Vivo Research Diet - Induced Metabolic
Syndrome in Rodent
Models
Title: A
Mouse Model that Recapitulates Cardinal Features of the 15q13.3 Microdeletion
Syndrome Including Schizophrenia - and Epilepsy - Related Alterations Author: K. Fejgin et al..
Segmentally trisomic Ts (1716) 65Dn
mice provide a postnatal
model for Down
syndrome.
Nevertheless, any direct evidence linking DNA damage to chronic inflammation stems from recent findings in progeroid (accelerated aging)
syndromes and accompanying
mouse models that carry inborn DNA repair defects.
Following a Forward Genetics approach, Fleming researchers identified a novel neurological
mouse model caused by a functional mutation in the Slc25a46 gene, a new pathogenic target in a wide spectrum of human neurological diseases, including optic atrophy, Charcot - Marie - Tooth type 2, Leigh
syndrome, progressive myoclonic ataxia and lethal congenital pontocerebellar hypoplasia.
Further work in human patients and in other
mouse models of HLH will be needed to generalize these findings to other HLH
syndromes beyond FHL2.
Forniceal DBS was found to improve learning and memory in a
mouse model of Rett
syndrome.
Gardiner says her group is now looking at data from a similar experiment done with a
mouse model of Down
syndrome.
In preliminary research, Makinson interrupted non-convulsive seizures in a
mouse model of Dravet
syndrome by changing brain activity in the thalamus with optogenetics.
Researchers, including Makinson, recently learned that the thalamus is abnormal in
mouse models of Dravet
syndrome.
The drug has been shown to correct for learning impairment in a
mouse model of Down
syndrome.
Kaphzan, H., Buffington, S.A., Jung, J.I., Rasband, M.N., and Klann, E. (2011) Alterations in intrinsic membrane properties and the axon initial segment in a
mouse model of Angelman
syndrome.
Loss of Correlations among Proteins in Brains of the Ts65Dn
Mouse Model of Down
Syndrome.
Li H et al. (2016) Penetrance of Congenital Heart Disease in a
Mouse Model of Down
Syndrome Depends on a Trisomic Potentiator of a Disomic Modifier.
Molecular characterization of the translocation breakpoints in the Down
syndrome mouse model Ts65Dn.
SAN FRANCISCO, CA — Researchers at the Gladstone Institutes have shown that reducing brain levels of the protein tau effectively blocks the development of disease in a
mouse model of Dravet
syndrome, a severe intractable form of childhood epilepsy.
In addition to fragile X
syndrome, my laboratory also has conducted studies to determine whether the signaling cascades that normally are required for long - lasting synaptic plasticity and memory are altered in
mouse models of several developmental disorders, iincluding autism spectrum disorder (ASD), intellectual disability (ID), tuberous sclerosis complex (TSC), and Angelman
syndrome.