Developmental defects in a Caenorhabditis elegans model for type III galactosemia.

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

Genetics

journal_title

Genetics

authors

Brokate-Llanos AM,Monje JM,Murdoch Pdel S,Muñoz MJ

doi

10.1534/genetics.114.170084

subject

Has Abstract

pub_date

2014-12-01 00:00:00

pages

1559-69

issue

4

eissn

0016-6731

issn

1943-2631

pii

genetics.114.170084

journal_volume

198

pub_type

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