Literature summary for 1.1.1.22 extracted from

Hengel, H.; Bosso-Lefevre, C.; Grady, G.; Szenker-Ravi, E.; Li, H.; Pierce, S.; Lebigot, E.; Tan, T.T.; Eio, M.Y.; Narayanan, G.; Utami, K.H.; Yau, M.; Handal, N.; Deigendesch, W.; Keimer, R.; Marzouqa, H.M.; Gunay-Aygun, M.; Muriello, M.J.; Verhelst, H.; Weckhuysen, S.; Mahida, S.; Naidu, S.; Thomas, T.G.
Loss-of-function mutations in UDP-glucose 6-dehydrogenase cause recessive developmental epileptic encephalopathy (2020), Nat. Commun., 11, 595 .

Application

Application	Comment	Organism
medicine	biallelic mutations in UGDH cause developmental epileptic encephalopathy. In 36 cases from 25 families presenting with epileptic encephalopathy with developmental delay and hypotonia, mutations either impair UGDH stability, oligomerization, or enzymatic activity. In vitro, patient-derived cerebral organoids are smaller with a reduced number of proliferating neuronal progenitors	Homo sapiens

Protein Variants	Comment	Organism
A44V	mutation is the genetic cause of a developmental epileptic encephalopathy in a consanguineous Palestinian family with three affected siblings. The A44V variant is also found in two additional families from Puerto Rico and from Spain	Homo sapiens
I331D	hypomorphic loss-of-function mutation jekyll m151. contrary to humans, homozygous mutant larvae do not show signs of increased c-fos expression at basal state	Danio rerio

Organism	UniProt	Comment	Textmining
Danio rerio	A8WGP7	-	-
Homo sapiens	O60701	-	-

Source Tissue	Comment	Organism	Textmining
fibroblast	primary fivbroblast	Homo sapiens	-

Synonyms	Comment	Organism
jekyll m151	-	Danio rerio

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Release 2023.1 (January 2023)