Talk:Neural System - Abnormalities: Difference between revisions
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==2010== | |||
===Regulators of the proteasome pathway, Uch37 and Rpn13, play distinct roles in mouse development=== | |||
PLoS One. 2010 Oct 27;5(10):e13654. | |||
Al-Shami A, Jhaver KG, Vogel P, Wilkins C, Humphries J, Davis JJ, Xu N, Potter DG, Gerhardt B, Mullinax R, Shirley CR, Anderson SJ, Oravecz T. | |||
Lexicon Pharmaceuticals, Inc, The Woodlands, Texas, United States of America. aalshami@lexpharma.com | |||
Abstract | |||
Rpn13 is a novel mammalian proteasomal receptor that has recently been identified as an amplification target in ovarian cancer. It can interact with ubiquitin and activate the deubiquitinating enzyme Uch37 at the 26S proteasome. Since neither Rpn13 nor Uch37 is an integral proteasomal subunit, we explored whether either protein is essential for mammalian development and survival. Deletion of Uch37 resulted in prenatal lethality in mice associated with severe defect in embryonic brain development. In contrast, the majority of Rpn13-deficient mice survived to adulthood, although they were smaller at birth and fewer in number than wild-type littermates. Absence of Rpn13 produced tissue-specific effects on proteasomal function: increased proteasome activity in adrenal gland and lymphoid organs, and decreased activity in testes and brain. Adult Rpn13(-/-) mice reached normal body weight but had increased body fat content and were infertile due to defective gametogenesis. Additionally, Rpn13(-/-) mice showed increased T-cell numbers, resembling growth hormone-mediated effects. Indeed, serum growth hormone and follicular stimulating hormone levels were significantly increased in Rpn13(-/-) mice, while growth hormone receptor expression was reduced in the testes. In conclusion, this is the first report characterizing the physiological roles of Uch37 and Rpn13 in murine development and implicating a non-ATPase proteasomal protein, Rpn13, in the process of gametogenesis. | |||
PMID: 21048919 | |||
==2007== | |||
===Scanning electron microscopy of fetal murine myelomeningocele reveals growth and development of the spinal cord in early gestation and neural tissue destruction around birth=== | ===Scanning electron microscopy of fetal murine myelomeningocele reveals growth and development of the spinal cord in early gestation and neural tissue destruction around birth=== | ||
J Pediatr Surg. 2007 Sep;42(9):1561-5. | J Pediatr Surg. 2007 Sep;42(9):1561-5. | ||
Revision as of 16:02, 21 March 2011
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Cite this page: Hill, M.A. (2026, September 15) Embryology Neural System - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Neural_System_-_Abnormalities |
2010
Regulators of the proteasome pathway, Uch37 and Rpn13, play distinct roles in mouse development
PLoS One. 2010 Oct 27;5(10):e13654.
Al-Shami A, Jhaver KG, Vogel P, Wilkins C, Humphries J, Davis JJ, Xu N, Potter DG, Gerhardt B, Mullinax R, Shirley CR, Anderson SJ, Oravecz T.
Lexicon Pharmaceuticals, Inc, The Woodlands, Texas, United States of America. aalshami@lexpharma.com
Abstract Rpn13 is a novel mammalian proteasomal receptor that has recently been identified as an amplification target in ovarian cancer. It can interact with ubiquitin and activate the deubiquitinating enzyme Uch37 at the 26S proteasome. Since neither Rpn13 nor Uch37 is an integral proteasomal subunit, we explored whether either protein is essential for mammalian development and survival. Deletion of Uch37 resulted in prenatal lethality in mice associated with severe defect in embryonic brain development. In contrast, the majority of Rpn13-deficient mice survived to adulthood, although they were smaller at birth and fewer in number than wild-type littermates. Absence of Rpn13 produced tissue-specific effects on proteasomal function: increased proteasome activity in adrenal gland and lymphoid organs, and decreased activity in testes and brain. Adult Rpn13(-/-) mice reached normal body weight but had increased body fat content and were infertile due to defective gametogenesis. Additionally, Rpn13(-/-) mice showed increased T-cell numbers, resembling growth hormone-mediated effects. Indeed, serum growth hormone and follicular stimulating hormone levels were significantly increased in Rpn13(-/-) mice, while growth hormone receptor expression was reduced in the testes. In conclusion, this is the first report characterizing the physiological roles of Uch37 and Rpn13 in murine development and implicating a non-ATPase proteasomal protein, Rpn13, in the process of gametogenesis.
PMID: 21048919
2007
Scanning electron microscopy of fetal murine myelomeningocele reveals growth and development of the spinal cord in early gestation and neural tissue destruction around birth
J Pediatr Surg. 2007 Sep;42(9):1561-5.
Stiefel D, Meuli M.
Neural Development Unit, Institute of Child Health, University College London, London, WC1N 1EH United Kingdom. Abstract BACKGROUND: Previous studies demonstrated that the spinal cord within a fetal myelomeningocele (MMC) lesion suffers progressive destruction during gestation. This study aims at elucidating this pathophysiologic feature on a cellular and ultrastructural level in a model of genetically determined MMC.
METHODS: Curly tail/loop tail mouse fetuses at various gestational stages and neonates were analyzed electron-microscopically to document time-point and nature of neural tissue development and pathologic alterations within the MMC.
RESULTS: At embryonic day (E) 8.5 and E9.5, round cells displaying multiple microvilli covered the entire region of interest, and some specimens showed initial stages of neurulation. At E10.5, neurulation was terminated in normal animals, whereas the neural placode remained unfolded in MMC fetuses and became distinguishable from adjacent epidermal layers. At E15.5, an apparently normal differentiation was found. Until this time-point, there was no tissue damage or inflammation. Thereafter, increasingly severe tissue alterations were identified with ongoing gestation leading to almost complete loss of neural tissue at birth.
CONCLUSION: We show here in fetal mice with MMC that, apart from absent neurulation, growth and development of the otherwise perfectly intact exposed spinal cord appear normal in early gestation, whereas later, the unprotected neural tissue is progressively destroyed.
PMID: 17848249
Neonatal Brain US by Erik Beek and Floris Groenendaal
ultrasound scans of head region http://www.radiologyassistant.nl/en/440c93be7456f
Preconceptional Folate Supplementation and the Risk of Spontaneous Preterm Birth: A Cohort Study
http://www.plosmedicine.org/article/info:doi/10.1371/journal.pmed.1000061
- "Preconceptional folate supplementation is associated with a 50%–70% reduction in the incidence of early spontaneous preterm birth. The risk of early spontaneous preterm birth is inversely proportional to the duration of preconceptional folate supplementation. Preconceptional folate supplementation was specifically related to early spontaneous preterm birth and not associated with other complications of pregnancy."
http://en.wikipedia.org/wiki/File:Encephalocele_of_a_newborn.JPG
<pubmed>19788802</pubmed>
An unusual case of duplication of the spinal canal
Rev Med Brux. 2007 Mar-Apr;28(2):119-22.
(Article in French)
Ranguelov N, Sourtzis S, Delpierre I, Christophe C, Louryan S.
Service de Pédiatrie, C.H.U. de Charleroi. Abstract We describe here a very rare congenital malformation, in which the vertebra Th 9 to 11 were divided into independent bodies and neural arches. The vertebral canal contained the spinal cord, whereas the space between bodies and arches was filled by nerve roots and a central remnant cord, not clearly connected to the main spinal cord. This malformation was considered as related to a fetal alcohol syndrome, with craniofacial and genitourinary abnormalities. The authors analyze, moreover the possible role of abnormal Sonic Hedgehog gene patterning in the pathogeny of this complex malformative sequence.
PMID: 17561726
