Lethal phenotype of mice carrying a Sept11 null mutation

2011 ◽  
Vol 392 (8-9) ◽  
pp. 779-781 ◽  
Author(s):  
Sabrina Röseler ◽  
Kirstin Sandrock ◽  
Ingrid Bartsch ◽  
Anja Busse ◽  
Heymut Omran ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Binding Proteins ◽  
Vesicle Trafficking ◽  
In Utero ◽  
High Expression ◽  
Synaptic Connectivity ◽  
Null Mutation ◽  
Gtp Binding ◽  
The Central Nervous System

Abstract Septins are cytoskeletal GTP-binding proteins involved in processes characterized by active membrane movement, such as cytokinesis, vesicle trafficking and exocytosis. Most septins are expressed ubiquitously, however, some septins accumulate in particular tissues. The ubiquitous SEPT11 also shows high expression levels in the central nervous system and in platelets. Here, SEPT11 is involved in vesicle trafficking and may play a role in synaptic connectivity. Interestingly, mice that harbor a homozygous Sept11 null mutation, die in utero. From day 11.5 post coitum onwards, development of homozygous embryos seems to be retarded and the embryos from day 13.5 onwards were dead.

GTP-binding proteins and protein phosphorylation substrates in central nervous system myelin

1992 ◽  
Vol 20 (3) ◽  
pp. 262S-262S
Author(s):  
MAJELLA S. de LANGE ◽  
JUSTINE WILLIAMSON ◽  
BARBARA LLOYD ◽  
R. J. THOMPSON
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Protein Phosphorylation ◽  
Binding Proteins ◽  
Gtp Binding Proteins ◽  
Gtp Binding

Cleidocranial Dysplasia with Neonatal Death Due to Central Nervous System Injury in Utero: Case Report and Literature Review

1998 ◽  
Vol 1 (4) ◽  
pp. 314-318 ◽  
Author(s):  
Calvin E. Oyer ◽  
Nina G. Tatevosyants ◽  
Selina C. Cortez ◽  
Abby Hornstein ◽  
Michael Wallach
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
In Utero ◽  
Cleidocranial Dysplasia ◽  
Related Condition ◽  
Wormian Bones ◽  
Bilateral Absence ◽  
The Central Nervous System ◽  
The Right ◽  
A Minor

Cleidocranial dysplasia (CCD), an uncommon disorder involving membranous bones, is rarely lethal in early life. The calvaria is defective and wormian bones are present. Abnormalities of the clavicles vary in severity from a minor unilateral defect to bilateral absence. This report concerns pre- and postmortem anatomical and radiological findings in a 15-day-old female neonate with CCD. Her postnatal course was characterized by seizures and recognition of hydrocephalus during the first day of life. The calvaria was hypoplastic with numerous wormian bones. A pseudofracture of the right clavicle was present. Hydrocephalus was present in the brachycephalic brain which had a severely thinned cerebral cortex. Hemosiderin in the ventricular lining and marked subependymal gliosis were interpreted as evidence of old intraventricular hemorrhage that had occurred in utero. A CCD-related condition, Yunis-Varon syndrome (YVS), is noted for early lethality and for developmental and secondary abnormalities of the central nervous system. The present case only partially matches the phenotype of YVS and might represent a part of a spectrum of phenotypic variants ranging from viable CCD to lethal YVS.

KINKY HAIR DISEASE

PEDIATRICS ◽  
1972 ◽  
Vol 50 (2) ◽  
pp. 181-183
Author(s):  
John H. Menkes
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
In Utero ◽  
Degenerative Disease ◽  
Degenerative Diseases ◽  
Kinky Hair Disease ◽  
The Central Nervous System ◽  
Almost All ◽  
Enzymatic Defect ◽  
Kinky Hair

Despite many recent advances in our understanding of progressive degenerative diseases of the nervous system which have permitted us in some instances to define the underlying enzymatic defect and to detect the disease in utero, treatment for affected children has been nonexistent in almost all instances. The paper by Danks et al.1 in this issue of Pediatrics is, therefore, of considerable importance. It not only demonstrates the underlying cause for one of these disorders, Kinky Hair disease, but also suggests a relatively simple course of treatment. Ten years ago a group of Residents from the Departments of Neurology, Pediatric Neurology, Neuropathology, and Dermatology described in this journal2 what appeared to be a new degenerative disease of the central nervous system.

The Drosophila Ras2 and Rop gene pair: a dual homology with a yeast Ras-like gene and a suppressor of its loss-of-function phenotype

Development ◽  
1993 ◽  
Vol 117 (4) ◽  
pp. 1309-1319 ◽  
Author(s):  
A. Salzberg ◽  
N. Cohen ◽  
N. Halachmi ◽  
Z. Kimchie ◽  
Z. Lev
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Vesicle Trafficking ◽  
Bidirectional Promoter ◽  
Opposite Polarity ◽  
Loss Of Function ◽  
Cis Acting ◽  
The Central Nervous System ◽  
Cellular Compartments ◽  
Drosophila Cells

The promoter of the Drosophila melanogaster Ras2 gene is bidirectional, regulating an additional gene oriented in the opposite polarity. The two divergently transcribed genes are only 93 bases apart and deletion analysis proved that common cis-acting elements within this promoter region are required for the transcriptional activity of both genes. We cloned the gene paired with Ras2 in the bidirectional promoter and isolated cDNAs corresponding to its mRNA. The Ras opposite (Rop) gene encodes for a 68 × 10(3) M(r) protein which shares sequence homology with the members of a novel Saccharomyces cerevisiae gene family, including the SLY1, SEC1 and VPS33 (SLP1) genes, all of which are involved in vesicle trafficking among yeast cellular compartments. A highly conserved motif in this family is also found in beta-COP, a coat protein isolated from rat Golgi-bound nonclathrin vesicles. Thus, the Rop protein may be a component of one of the vesicle trafficking pathways in Drosophila cells. The Rop gene expression during embryogenesis is restricted to the central nervous system (CNS) and the garland cells, a small group of nephrocytes that takes up waste materials from the haemolymph by endocytosis. Ras2 is also expressed in the embryonic garland cells. In postembryonic stages, the two genes are co-expressed in the larval salivary glands and the central nervous system, and in the adult CNS and reproductive systems. Interestingly, the S. cerevisiae SLY1-20 allele is a suppressor of the loss of the YPT1 gene, a ras-like gene implicated in vesicle translocation, suggesting that the two genes may interact with one another. Since Sec1p and beta-COP may also interact with small GTP-binding proteins of the ras superfamily, it is conceivable that the Rop and Ras2 gene products are not just co-expressed in common tissues, but may also functionally interact with one another in these tissues.

scholarly journals Astroglial cradle in the life of the synapse

2014 ◽  
Vol 369 (1654) ◽  
pp. 20130595 ◽  
Author(s):  
Alexei Verkhratsky ◽  
Maiken Nedergaard
Keyword(s):  
Amino Acids ◽  
Central Nervous System ◽  
Nervous System ◽  
Synaptic Plasticity ◽  
Synaptic Connectivity ◽  
Synaptic Structure ◽  
Neuronal Membranes ◽  
The Central Nervous System ◽  
Multiple Molecules ◽  
Fundamental Mechanism

Astroglial perisynaptic sheath covers the majority of synapses in the central nervous system. This glial coverage evolved as a part of the synaptic structure in which elements directly responsible for neurotransmission (exocytotic machinery and appropriate receptors) concentrate in neuronal membranes, whereas multiple molecules imperative for homeostatic maintenance of the synapse (transporters for neurotransmitters, ions, amino acids, etc.) are shifted to glial membranes that have substantially larger surface area. The astrocytic perisynaptic processes act as an ‘astroglial cradle’ essential for synaptogenesis, maturation, isolation and maintenance of synapses, representing the fundamental mechanism contributing to synaptic connectivity, synaptic plasticity and information processing in the nervous system.

scholarly journals G-protein involvement in central-nervous-system muscarinic-receptor-coupled polyphosphoinositide hydrolysis

1988 ◽  
Vol 256 (3) ◽  
pp. 995-999 ◽  
Author(s):  
A S Chiu ◽  
P P Li ◽  
J J Warsh
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
G Protein ◽  
Protein S ◽  
Muscarinic Agonist ◽  
Gtp Binding ◽  
Inositol 1,4,5 Trisphosphate ◽  
The Central Nervous System ◽  
New Evidence

Potentiation of muscarinic-agonist-stimulated polyphosphoinositide (PPI) hydrolysis was demonstrated in a rat cerebral-cortical membrane preparation prelabelled with myo-[3H]inositol. Accumulation of myo-[3H]inositol 1,4-bisphosphate ([3H]IP2) was used to assess brain [3H]phosphatidylinositol 4,5-bisphosphate hydrolysis as its immediate metabolite, myo-[3H]inositol 1,4,5-trisphosphate, was rapidly hydrolysed to [3H]IP2. Inclusion of ATP (100 microM) and Mg2+ (5 mM) in the assay medium was necessary to demonstrate the effect of GTP analogues on carbachol-stimulated brain [3H]PPI turnover. Carbachol (100 microM) induced only a small increment in [3H]IP2 accumulation (142% of control) in 1 min. However, its effect was markedly enhanced, to 800% and 300% of control, by 100 microM-guanosine 5′-[gamma-thio]triphosphate (GTP[S]) and guanosine 5′-[beta gamma-imido]triphosphate (p[NH]ppG) respectively. GTP[S] and p[NH]ppG also stimulated [3H]IP2 accumulation by over 500% and 200% of control, respectively. The GTP-analogue-potentiated carbachol effect was antagonized by 10 microM-atropine, whereas the GTP-analogue stimulation was unaffected. This report confirms the involvement of a G (GTP-binding) protein(s) in brain PPI metabolism and provides new evidence for the role of G protein(s) in the coupling of stimulated muscarinic receptors to PPI hydrolysis in the central nervous system.

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