TY  - JOUR
AU  - Cabrera-Serrano, Macarena
AU  - Coote, David Joseph
AU  - Azmanov, Dimitar
AU  - Goullee, Hayley
AU  - Andersen, Erik
AU  - McLean, Catriona
AU  - Davis, Mark
AU  - Ishimura, Ryosuke
AU  - Stark, Zornitza
AU  - Jean-Michel, Vallat
AU  - Komatsu, Masaaki
AU  - Kornberg, Andrew
AU  - Ryan, Monique
AU  - Laing, Nigel G
AU  - Ravenscroft, Gina
PY  - 2020
DO  - 10.1136/jmedgenet-2019-106496
UR  - http://hdl.handle.net/10668/15246
T2  - Journal of medical genetics
AB  - UBA5 is the activating enzyme of UFM1 in the ufmylation post-translational modification system. Different neurological phenotypes have been associated with UBA5 pathogenic variants including epilepsy, intellectual disability, movement disorders and...
LA  - en
PB  - BMJ Group
KW  - UBA5
KW  - peripheral nerve disease
KW  - rare disease
KW  - ufmylation
KW  - Ataxia
KW  - CRISPR-Cas Systems
KW  - Central Nervous System
KW  - Consanguinity
KW  - Epilepsy
KW  - Female
KW  - Gene Expression Regulation
KW  - Genetic Linkage
KW  - HEK293 Cells
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Intellectual Disability
KW  - Male
KW  - Movement Disorders
KW  - Mutation
KW  - Nervous System Malformations
KW  - Pedigree
KW  - Peripheral Nerves
KW  - Proteins
KW  - Ubiquitin-Activating Enzymes
TI  - A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.
TY  - research article
VL  - 57
ER  -