Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.6.4.1 (
myosin ATPase
)
1,140
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Measurements of total proteins, myosin, actin, actin-binding protein, and ATPase activity of myosin were examined in platelets from patients with idiopathic
scoliosis
and from healthy individuals. Abnormalities in the distribution of total and contractile proteins were revealed after fractionations. The insoluble fraction of the patients' platelets had a higher, and the cytosol fraction had a lower than normal protein content. Similar differences were observed in the specific activity of
myosin ATPase
. These findings show that in patients with idiopathic
scoliosis
platelet defects exist and that their study might be useful in research of the disease.
...
PMID:Contractile protein studies on platelets from patients with idiopathic scoliosis. 621
Distal arthrogryposis (DA) is group of syndromes characterized by congenital joint contractures. Treatment development is hindered by the lack of vertebrate models. Here, we describe a zebrafish model in which a common MYH3 missense mutation (R672H) was introduced into the orthologous zebrafish gene smyhc1 (slow myosin heavy chain 1) (R673H). We simultaneously created a smyhc1 null allele (smyhc1
-
), which allowed us to compare the effects of both mutant alleles on muscle and bone development, and model the closely related disorder, spondylocarpotarsal synostosis syndrome. Heterozygous smyhc1
R673H/+
embryos developed notochord kinks that progressed to
scoliosis
with vertebral fusions; motor deficits accompanied the disorganized and shortened slow-twitch skeletal muscle myofibers. Increased dosage of the mutant allele in both homozygous smyhc1
R673H/R673H
and transheterozygous smyhc1
R673H/-
embryos exacerbated the notochord and muscle abnormalities, causing early lethality. Treatment of smyhc1
R673H/R673H
embryos with the
myosin ATPase
inhibitor, para-aminoblebbistatin, which decreases actin-myosin affinity, normalized the notochord phenotype. Our zebrafish model of MYH3-associated DA2A provides insight into pathogenic mechanisms and suggests a beneficial therapeutic role for myosin inhibitors in treating disabling contractures.
...
PMID:MYH3-associated distal arthrogryposis zebrafish model is normalized with para-aminoblebbistatin. 3301 23
