Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism (2016)
- Authors:
- USP affiliated authors: KOK, FERNANDO - FM ; ROSENBERG, CARLA - IB
- Unidades: FM; IB
- DOI: 10.1038/ejhg.2015.69
- Subjects: SÍNDROME X METABÓLICA; FIBROBLASTOS; TÉCNICAS CITOLÓGICAS
- Language: Inglês
- Imprenta:
- Source:
- Título: European Journal of Human Genetics
- ISSN: 1018-4813
- Volume/Número/Paginação/Ano: v. 24, n. 1, p. 59-65, 2016
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
MACHADO, Camila Oliveira Freitas et al. Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism. European Journal of Human Genetics, v. 24, n. 1, p. 59-65, 2016Tradução . . Disponível em: https://doi.org/10.1038/ejhg.2015.69. Acesso em: 22 jan. 2026. -
APA
Machado, C. O. F., Griesi-Oliveira, K., Rosenberg, C., Kok, F., Martins, S., Passos-Bueno, M. R., & Sertie, A. L. (2016). Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism. European Journal of Human Genetics, 24( 1), 59-65. doi:10.1038/ejhg.2015.69 -
NLM
Machado COF, Griesi-Oliveira K, Rosenberg C, Kok F, Martins S, Passos-Bueno MR, Sertie AL. Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism [Internet]. European Journal of Human Genetics. 2016 ; 24( 1): 59-65.[citado 2026 jan. 22 ] Available from: https://doi.org/10.1038/ejhg.2015.69 -
Vancouver
Machado COF, Griesi-Oliveira K, Rosenberg C, Kok F, Martins S, Passos-Bueno MR, Sertie AL. Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism [Internet]. European Journal of Human Genetics. 2016 ; 24( 1): 59-65.[citado 2026 jan. 22 ] Available from: https://doi.org/10.1038/ejhg.2015.69 - Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment
- CHARCOT-MARIE-TOOTH 2W. A NEW MUTATION?
- AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
- Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS
- Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations
- Oxidative damage in glutaric aciduria type I patients and the protective effects of L-carnitine treatment
- Paraplegias espásticas hereditárias
- Clinical and genetic characterization of leukoencephalopathies in adults
- Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
- Encefalopatias progressivas em crianças
Informações sobre o DOI: 10.1038/ejhg.2015.69 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
