Spinal muscular atrophy is associated with mutations in the survival of motor neuron and neuronal apoptosis inhibitory protein (NAIP) genes.57 58 NAIP is related to the baculovirus inhibitor of apoptosis protein and inhibits apoptosis in several cell types.59 This implies that mutations in NAIP could deregulate apoptosis in spinal motor neurons, thus causing their death. The general importance of anti-apoptotic genes in neuronal Cleaved-PARP-1 (G215) Polyclonal Antibody_ImmunoWay Western blot analysis of lysates from NIH/3T3 cells, treated with etoposide 25uM 1h, using PARP (Cleaved-Gly215) Antibody. The lane on the right is blocked with the synthesized peptide. Wang, Bin, et al. "Loss of Tctn3 causes neuronal apoptosis and neural tube defects in
Geminin loss causes neural tube defects through disrupted progenitor specification and neuronal differentiation we found no evidence of proliferation defects or altered apoptosis. Comparisons of gene eion in the NT of Geminin mutant versus wild-type siblings at embryonic day 10.5 revealed decreased eion of key regulators of Geminin loss causes neural tube defects through disrupted Sep 01, 2014 · Loss of Geminin in neuroectoderm causes completely penetrant neural tube defects. Geminin deletion causes neural progenitor specification and differentiation defects. Neurogenic transcription factor eion is reduced in the neural tube of mutants. Loss of Geminin in the neural tube also results in axial skeleton malformations. Loss of mitogen-activated protein kinase kinase kinase 4 Mar 08, 2005 · Thus, loss of MEKK4 results in enhanced apoptosis before, during, and after neural tube closure periods. These observations strongly suggest that the excessive cell death is unlikely to be a consequence of failed neural tube closure, but rather, a direct event induced by MEKK4 deficiency that may contribute to development of NTDs.
Mar 08, 2005 · Thus, loss of MEKK4 results in enhanced apoptosis before, during, and after neural tube closure periods. These observations strongly suggest that the excessive cell death is unlikely to be a consequence of failed neural tube closure, but rather, a direct event induced by MEKK4 deficiency that may contribute to development of NTDs. Nkx2.1 downregulation is involved in brain abnormality
- IntroductionMaterials and MethodsResultsDiscussionFundingNeural tube defects (NTDs) are common and serious birth defects of central nervous system (CNS) due to unclosed or partially closed neural tube. Its phenotypes mainly include anencephaly, spina bifida and encephalocele . NTDs incidence leads to congenital heart diseases with a global prevalence ranging from 1 to 10 per 1000 births, which has posed a heavy burden on the development of society . Most studies showed that deficiency of folic acid in the diet is a significant risk contributor to NTDs . At preNovel mutations of TCTN3/LTBP2 with cellular function The present study demonstrates that in complex CHD associated with polydactyly, the mutations of LTBP2 and TCTN3 may be potential pathological cause since these mutations are associated with changes of cellular functions that may affect the development of the heart. Further, this study again demonstrates that TBX5 mutations may not present in
Production of Ceramides Causes Apoptosis during Early During recent years, a novel type of neural programmed cell death has become evident. In several systems, it was demon-strated that neuronal cells die very early during neurogenesis and, in some cases, well before the period of target contact (5, 6). During chick development, cells die in the early neural tube
region of the neural tube affected and include exencephaly (cranial), craniorachischisis (trunk), and spina bifida (posterior). Despite the clinical importance of NTDs, their causes are poorly understood. The neural tube is formed by thickening of the dorsal surface ectoderm, which folds and joins at the midline.Three Tctn proteins are functionally conserved in the Oct 01, 2017 · In the present study, we report that loss of Tctn3 gene function in mice results in a decrease in ciliogenesis and Hh signaling. Consistent with this, Tctn3 mutant mice exhibit holoprosencephaly and randomized heart looping and lack the floor plate in the neural tube, the phenotypes similar to those of Tctn1 and Tctn2 mutants.