Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Othmar Korn
PROVIDER: E-GEOD-75852 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Nayler Sam P SP Powell Joseph E JE Vanichkina Darya P DP Korn Othmar O Wells Christine A CA Kanjhan Refik R Sun Jian J Taft Ryan J RJ Lavin Martin F MF Wolvetang Ernst J EJ
Frontiers in cellular neuroscience 20171013
Ataxia-telangiectasia (A-T) is a rare genetic disorder caused by loss of function of the ataxia-telangiectasia-mutated kinase and is characterized by a predisposition to cancer, pulmonary disease, immune deficiency and progressive degeneration of the cerebellum. As animal models do not faithfully recapitulate the neurological aspects, it remains unclear whether cerebellar degeneration is a neurodevelopmental or neurodegenerative phenotype. To address the necessity for a human model, we first ass ...[more]