Sentences with phrase «sma mouse»

He went on to show that motor neurons in both SMA mouse models and patients have defects in myelination.

Work from his lab shows a vascular depletion in the muscle of both SMA mouse models and patients.

He presented results from both SMA mouse models and patients that demonstrated SMN depletion results in muscle - intrinsic defects such as reduced satellite cell number, a delay in the myogenic program, reduced myoblast fusion, and molecular homeostasis disruption.

He showed evidence of decreased bone volume in SMA mouse models of various severity, as well as increased fractures and osteoclast formation.

A key early development was establishment at the Ohio State University of a SMA mouse model that recapitulates the human disease.

In a study reported this month in the Journal of Clinical Investigation, researchers show that a powerful HDAC inhibitor can increase SMN2 expression, ameliorate neuromuscular abnormalities, and improve the clinical phenotype of an SMA mouse model (117:659 — 671).

Even while these experiments were proceeding, Dr. Sumner wanted to study the phenomenon of HDAC inhibition in the SMA mouse.

She found that even a single dose injected into the SMA mouse boosted the level of SMN2 expression, though not enough for an effect on symptoms.

«This discovery was unexpected and led us to test whether mitochondrial functions were changed in motor neurons from SMA mouse models,» said Ma.

Lorson's study, «Morpholino antisense oligonucleotides targeting intronic repressor Element1 improve phenotype in SMA mouse models,» was published in September 2014 in the Journal of Human Molecular Genetics.

Arthur Burghes, PhD, of Ohio State created a ground - breaking SMA mouse model that remains the standard by which all therapies, including AVXS - 101, are initially tested.

Also, it is reassuring that our results of improved motor unit dysfunction in SMA mice treated with RG3039 mirror the independent findings by the laboratories of Drs. Sumner and Ko.

The two laboratories then collaborated to show that scAAV9 - SMN, when delivered to SMA mice shortly after birth, completely prevented their neuromuscular disorder.

The first hint that HDAC inhibitors might affect SMA came in a 2001 study showing that the weak inhibitor phenylbutyrate increased protein levels in patient cell lines and SMA mice (Proc Natl Acad Sci 2001; 98:9808 — 9813).

Next, the researchers gave daily injections of TSA to the SMA mice, starting when the mice were 5 days old.

Consistent with these findings, satellite cells from SMA mice differentiate prematurely both in vivo and in vitro and form fewer myotubes.

Dr. Tom Gillingwater from the University of Edinburgh began by presenting data from Dr. Adrian Krainer's lab that showed SMN restoration in the peripheral tissues is critical for long - term survival in SMA mice, demonstrating the importance of SMN outside of the CNS.

Pathological impact of SMN2 mis - splicing in adult SMA mice.

Loren jetted off to Taiwan and persuaded researchers there to share their SMA mice at cost, at least with academics.

Not exact matches

They confirmed these same opposite patterns of SMA protein and SMN lnc - RNA in embryonic mice too.

Now, testing of that compound is leading to a better prognosis for mice with the disease and the possibility of potential drugs that will improve outcomes for patients with SMA.

Led by graduate student Patrick O'Hern, the team at Brown and the University of Cologne in Germany uncovered a complex cause - and - effect sequence in both C. elegans worm and mouse models of SMA.

«Our current treatment helps the body create a backup mechanism to combat the disease and extends survival in mice with SMA from just 13 days to a little over five months after only one injection at birth,» Lorson said.

His research found that the earlier the treatment can be administered in mice with SMA, the better the outcome.

Ma and colleagues first discovered that mitochondria was involved in SMA when they analyzed gene expression profiles of motor neurons from SMA and control mice.

Bar Harbor, Maine — October 21, 2004 — The Jackson Laboratory is pleased to announce that it has received support from the Spinal Muscular Atrophy Foundation to make available the first group of mouse models for spinal muscular atrophy (SMA), a neuromuscular disease and the leading genetic cause of death among infants and toddlers.

March 13, 2007 — Cold Spring Harbor, New York — RNA splicing antisense technology studied at Cold Spring Harbor Laboratory (CSHL) effectively corrected an mRNA splicing defect found in spinal muscular atrophy (SMA) patients, and is now ready to be tested in mouse models.

Identification of a Maleimide - Based Glycogen Synthase Kinase - 3 (GSK - 3) Inhibitor, BIP - 135, that Prolongs the Median Survival Time of Ä7 SMA KO Mouse Model of Spinal Muscular Atrophy.

Complementing its extensive capabilities, PsychoGenics offers a variety of validated mouse models including in - licensed transgenic models that support research in areas such as Alzheimer's disease, Huntington's disease, Parkinson's disease, Autism spectrum disorders, psychosis / schizophrenia, Spinal Muscular Atrophy (SMA), muscular dystrophy and other muscle disorders.

As part of this collaborative agreement PsychoGenics has established self - sustaining transgenic SMA colonies and characterized the progression of behavioral and motor deficits in these mice over time.

Mice with a homozygous SMN1 deletion are the offspring of heterozygous carriers, mimicking the SMA genetics in humans.

Skeletal Muscle DNA Damage Precedes Spinal Motor Neuron DNA Damage in a Mouse Model of Spinal Muscular Atrophy (SMA).

Walenbergh SMA, Houben T, Hendrikx T, Jeurissen MLJ, Gorp van PJ, Vaes N, Olde Damink SWM, Verheyen F, Koek GH, Lütjohann D, Grebe A, Latz E, Shiri - Sverdlov R. Weekly Treatment of 2 - Hydroxypropyl - β - cyclodextrin Improves Intracellular Cholesterol Levels in LDL Receptor Knockout Mice.

The SMA Foundation maintains an in vivo drug testing pipeline, where compounds are screened for their efficacy using a standardized platform in a model of severe SMA, the Delta7 mouse, and more recently in the C / C mouse that models milder forms of SMA.

George Mentis, PhD, Columbia University «Functional and structural impairments in spinal cord circuitry in a mouse model of SMA»

Multiple mouse models of SMA have been produced, generally by knocking out the endogenous mouse SMN1 gene and replacing it with one or more copies of the human SMN2 gene that produces much less full - length SMN protein than the SMN1 gene.

Long - term exercise appears to be beneficial for Spinal Muscular Atrophy (SMA) like mice, suggesting a potential of active physiotherapy for patient care; according to a study published today in The Jo

To date, approximately 40 SMA - related mouse lines are available for order at JAX.

A summary of the SMA Foundation's SMA allelic series of mice is available below.

Please contact [email protected] for more information on the C / C mouse and other SMA Foundation allelic series mice.

The SMA Foundation has partnered with the The Jackson Laboratory (JAX) to support the importation of key mouse models of SMA into the JAX mouse repository.

Many of the most commonly used mouse models by SMA researchers, including the delta7 mouse (Le et al., 2005), present severe motor deficits, and generally die before 14 days of age.

SMA Allelic Series Mice Available at The Jackson Laboratory (JAX).

Please see the SMA Foundation report on our mouse drug testing pipeline, for a summary of results and available resources.

In the new study, the investigators tested TSA, which is a potent HDAC inhibitor, in cells from SMA patients and in a mouse model of SMA.

Functional interaction between FUS and SMN underlies SMA - like splicing changes in wild - type hFUS mice.

This portfolio includes licensing opportunities for mouse models of SMA created by the University of Wuerzburg and The Ohio State University and the portfolio also includes tools derived from ongoing research enterprises.

The same compounds also have therapeutic benefit in a mouse model of a severe form of SMA.

As will be reported at the upcoming FSMA - sponsored 11th Annual International SMA Group Meeting in June, our compounds prolong survival in mouse models of SMA and are very effective at crossing the blood brain barrier to reach motor neurons in the spinal cord.

The article examines the onset of motor neuron loss in a mouse model of SMA and sheds light on the pathophysiological mechanisms of motor neuron degeneration.