Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Impact of DNA repair and stability defects on cortical development.

Literature DB >> 30116853

Impact of DNA repair and stability defects on cortical development.

Federico T Bianchi^1,2, Gaia E Berto^3,4, Ferdinando Di Cunto^3,4,5.

Abstract

Maintenance of genome stability is a crucial cellular function for normal mammalian development and physiology. However, despite the general relevance of this process, genome stability alteration due to genetic or non-genetic conditions has a particularly profound impact on the developing cerebral cortex. In this review, we will analyze the main pathways involved in maintenance of genome stability, the consequences of their alterations with regard to central nervous system development, as well as the possible molecular and cellular basis of this specificity.

Entities: Disease Species

Keywords: BER; Centrosome; Chromosome stability; DNA damage; Fanconi anemia; HR; MCPH; Microcephaly; Mitosis; NER; NHEJ; SCKS

Mesh：

Year: 2018 PMID： 30116853 DOI： 10.1007/s00018-018-2900-2

Source DB: PubMed Journal: Cell Mol Life Sci ISSN： 1420-682X Impact factor: 9.261

134 in total

1. Neurons arise in the basal neuroepithelium of the early mammalian telencephalon: a major site of neurogenesis.

Authors: Wulf Haubensak; Alessio Attardo; Winfried Denk; Wieland B Huttner
Journal: Proc Natl Acad Sci U S A Date: 2004-02-12 Impact factor: 11.205

2. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.

Authors: Dietke Buck; Laurent Malivert; Régina de Chasseval; Anne Barraud; Marie-Claude Fondanèche; Ozden Sanal; Alessandro Plebani; Jean-Louis Stéphan; Markus Hufnagel; Françoise le Deist; Alain Fischer; Anne Durandy; Jean-Pierre de Villartay; Patrick Revy
Journal: Cell Date: 2006-01-27 Impact factor: 41.582

4. VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes.

Authors: Elena Martín-Doncel; Ana M Rojas; Lara Cantarero; Pedro A Lazo
Journal: Sci Rep Date: 2019-09-16 Impact factor: 4.379

4 in total

Impact of DNA repair and stability defects on cortical development.

1. Neurons arise in the basal neuroepithelium of the early mammalian telencephalon: a major site of neurogenesis.

2. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.

3. Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH.

Review 4. Transcription-Coupled DNA Double-Strand Break Repair: Active Genes Need Special Care.

Review 5. DNA repair mechanisms in dividing and non-dividing cells.

Review 6. Expanded roles of the Fanconi anemia pathway in preserving genomic stability.

7. Comparison of nonhomologous end joining and homologous recombination in human cells.

Review 8. The Fanconi anaemia pathway: new players and new functions.

9. Requirement for DNA ligase IV during embryonic neuronal development.

Review 10. The role of double-strand break repair - insights from human genetics.

1. Traip controls mushroom body size by suppressing mitotic defects.

2. Nearly complete deletion of BubR1 causes microcephaly through shortened mitosis and massive cell death.

Review 3. Chromosome Instability in Fanconi Anemia: From Breaks to Phenotypic Consequences.

4. VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes.