Abstract:
:Type III galactosemia is a metabolic disorder caused by reduced activity of UDP-galactose-4-epimerase, which participates in galactose metabolism and the generation of various UDP-sugar species. We characterized gale-1 in Caenorhabditis elegans and found that a complete loss-of-function mutation is lethal, as has been hypothesized for humans, whereas a nonlethal partial loss-of-function allele causes a variety of developmental abnormalities, likely resulting from the impairment of the glycosylation process. We also observed that gale-1 mutants are hypersensitive to galactose as well as to infections. Interestingly, we found interactions between gale-1 and the unfolded protein response.
journal_name
Geneticsjournal_title
Geneticsauthors
Brokate-Llanos AM,Monje JM,Murdoch Pdel S,Muñoz MJdoi
10.1534/genetics.114.170084subject
Has Abstractpub_date
2014-12-01 00:00:00pages
1559-69issue
4eissn
0016-6731issn
1943-2631pii
genetics.114.170084journal_volume
198pub_type
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