Cargando…
Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy
Membrane fusion is mediated by soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins. During neurotransmitter exocytosis, SNARE proteins on a synaptic vesicle and the target membrane form a complex, resulting in neurotransmitter release. N-ethylmaleimide-sensitive fa...
Autores principales: | Hayashi, Takahiro, Yano, Naoko, Kora, Kengo, Yokoyama, Atsushi, Maizuru, Kanako, Kayaki, Taisei, Nishikawa, Kinuko, Osawa, Mitsujiro, Niwa, Akira, Takenouchi, Toshiki, Hijikata, Atsushi, Shirai, Tsuyoshi, Suzuki, Hisato, Kosaki, Kenjiro, Saito, Megumu K, Takita, Junko, Yoshida, Takeshi |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162430/ https://www.ncbi.nlm.nih.gov/pubmed/36645181 http://dx.doi.org/10.1093/hmg/ddad008 |
Ejemplares similares
-
De novo NSF mutations cause early infantile epileptic encephalopathy
por: Suzuki, Hisato, et al.
Publicado: (2019) -
A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
por: Ueda, Kimiko, et al.
Publicado: (2021) -
Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients
por: Suzuki, Hisato, et al.
Publicado: (2020) -
Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report
por: Ouchi, Shogo, et al.
Publicado: (2023) -
Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency
por: Ogawa, Eri, et al.
Publicado: (2023)