A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia

The principal component of the protein homeostasis network is the ubiquitin-proteasome system. Ubiquitination is mediated by an enzymatic cascade involving, i.e. E3 ubiquitin ligases, many of which belong to the cullin-RING ligases family. Genetic defects in the ubiquitin-proteasome system component...

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Detalles Bibliográficos
Autores principales: Dubey, Abhishek Anil, Krygier, Magdalena, Szulc, Natalia A, Rutkowska, Karolina, Kosińska, Joanna, Pollak, Agnieszka, Rydzanicz, Małgorzata, Kmieć, Tomasz, Mazurkiewicz-Bełdzińska, Maria, Pokrzywa, Wojciech, Płoski, Rafał
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10026218/
https://www.ncbi.nlm.nih.gov/pubmed/36336956
http://dx.doi.org/10.1093/hmg/ddac276

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10026218/
https://www.ncbi.nlm.nih.gov/pubmed/36336956
http://dx.doi.org/10.1093/hmg/ddac276

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