Cargando…
Neuronal impact of patient-specific aberrant NRXN1α splicing
NRXN1 undergoes extensive alternative splicing, and non-recurrent heterozygous deletions in NRXN1 are strongly associated with neuropsychiatric disorders. We establish that human induced pluripotent stem cell (hiPSC)-derived neurons represent well the diversity of NRXN1α alternative splicing observe...
Autores principales: | Flaherty, Erin, Zhu, Shijia, Barretto, Natalie, Cheng, Esther, Deans, Michael Peter, Fernando, Michael, Schrode, Nadine, Francoeur, Nancy, Antoine, Alesia, Alganem, Khaled, Halpern, Madeline, Deikus, Gintaras, Shah, Hardik, Fitzgerald, Megan, Ladran, Ian, Gochman, Peter, Rapoport, Judith, Tsankova, Nadejda, Mccullumsmith, Robert, Hoffman, Gabriel E., Sebra, Robert, Fang, Gang, Brennand, Kristen J. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7451045/ https://www.ncbi.nlm.nih.gov/pubmed/31784728 http://dx.doi.org/10.1038/s41588-019-0539-z |
Ejemplares similares
-
Transcriptional signatures of schizophrenia in hiPSC-derived NPCs and neurons are concordant with post-mortem adult brains
por: Hoffman, Gabriel E., et al.
Publicado: (2017) -
51. BRAIN METASTASES FROM ENDOMETRIAL CARCINOMA: TUMOR GENETIC ALTERATIONS IN A CASE SERIES AND META-ANALYSIS
por: Chapman, Emily K, et al.
Publicado: (2020) -
Synergistic effects of common schizophrenia risk variants
por: Schrode, Nadine, et al.
Publicado: (2019) -
Precise Therapeutic Targeting of Distinct NRXN1(+/−) Mutations
por: Fernando, Michael B., et al.
Publicado: (2023) -
Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression
por: Rochtus, Anne M., et al.
Publicado: (2019)