dc.creator | Salpietro, Vincenzo | |
dc.creator | Efthymiou, Stephanie | |
dc.creator | Manole, Andreea | |
dc.creator | Maurya, Bhawana | |
dc.creator | Wiethoff, Sarah | |
dc.creator | Ashokkumar, Balasubramaniem | |
dc.creator | Cutrupi, Maria Concetta | |
dc.creator | Dipasquale, Valeria | |
dc.creator | Manti, Sara | |
dc.creator | Botia, Juan A. | |
dc.creator | Ryten, Mina | |
dc.creator | Vandrovcova, Jana | |
dc.creator | Bello, Oscar Daniel | |
dc.creator | Bettencourt, Conceicao | |
dc.creator | Mankad, Kshitij | |
dc.creator | Mukherjee, Ashim | |
dc.creator | Mutsuddi, Mousumi | |
dc.creator | Houlden, Henry | |
dc.date.accessioned | 2022-06-21T17:39:01Z | |
dc.date.accessioned | 2022-10-15T00:48:54Z | |
dc.date.available | 2022-06-21T17:39:01Z | |
dc.date.available | 2022-10-15T00:48:54Z | |
dc.date.created | 2022-06-21T17:39:01Z | |
dc.date.issued | 2018-02 | |
dc.identifier | Salpietro, Vincenzo; Efthymiou, Stephanie; Manole, Andreea; Maurya, Bhawana; Wiethoff, Sarah; et al.; A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function; Wiley-liss, div John Wiley & Sons Inc.; Human Mutation; 39; 2; 2-2018; 187-192 | |
dc.identifier | 1059-7794 | |
dc.identifier | http://hdl.handle.net/11336/160097 | |
dc.identifier | CONICET Digital | |
dc.identifier | CONICET | |
dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/4326586 | |
dc.description.abstract | We report on a homozygous frameshift deletion in DDX59 (c.185del: p.Phe62fs*13) in a family presenting with orofaciodigital syndrome phenotype associated with a broad neurological involvement characterized by microcephaly, intellectual disability, epilepsy, and white matter signal abnormalities associated with cortical and subcortical ischemic events. DDX59 encodes a DEAD-box RNA helicase and its role in brain function and neurological diseases is unclear. We showed a reduction of mutant cDNA and perturbation of SHH signaling from patient-derived cell lines; furthermore, analysis of human brain gene expression provides evidence that DDX59 is enriched in oligodendrocytes and might act within pathways of leukoencephalopathies-associated genes. We also characterized the neuronal phenotype of the Drosophila model using mutant mahe, the homolog of human DDX59, and showed that mahe loss-of-function mutant embryos exhibit impaired development of peripheral and central nervous system. Taken together, our results support a conserved role of this DEAD-box RNA helicase in neurological function. | |
dc.language | eng | |
dc.publisher | Wiley-liss, div John Wiley & Sons Inc. | |
dc.relation | info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1002/humu.23368 | |
dc.relation | info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/10.1002/humu.23368 | |
dc.rights | https://creativecommons.org/licenses/by/2.5/ar/ | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject | DDX59 | |
dc.subject | DEAD-BOX RNA HELICASE | |
dc.subject | LEUKOENCEPHALOPATHY | |
dc.subject | MAHE | |
dc.subject | NOTCH SIGNALING | |
dc.subject | SONIC HEDGEHOG SIGNALING | |
dc.title | A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function | |
dc.type | info:eu-repo/semantics/article | |
dc.type | info:ar-repo/semantics/artículo | |
dc.type | info:eu-repo/semantics/publishedVersion | |