Familial hyperglycerolemia.

Rose, Christiane; Haines, D S

doi:10.1172/jci108914

Cited by 53 publications

(29 citation statements)

References 23 publications

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“…Interestingly, some recent molecular studies have shown the high prevalence of diabetes mellitus observable in familial hyperglycerolemia. (47) Indeed, several of the peaks obtained after the genome-wide scan carried out for glycerol levels are concordant with those obtained for diabetes mellitus (D. Gaudet et al, unpublished data). It is well known that glycerol metabolism, and related metabolic pathways, is modulated by several hormones, including thyroid hormones.…”

Section: Athletic Performancessupporting

confidence: 74%

Glycerol: a neglected variable in metabolic processes?

et al. 2001

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Glycerol is a small and simple molecule produced in the breakdown of glucose, proteins, pyruvate, triacylglycerols and other glycerolipid, as well as release from dietary fats. An increasing number of observations show that glycerol is probably involved in a surprising variety of physiopathologic mechanisms. Glycerol has long been known to play fundamental roles in several vital physiological processes, in prokaryotes and eukaryotes, and is an important intermediate of energy metabolism. Despite some differences in the details of their operation, many of these mechanisms have been preserved throughout evolution, demonstrating their fundamental importance. In particular, glycerol can control osmotic activity and crystal formation and then act as a cryoprotective agent. Furthermore, its properties make it useful in numerous industrial, therapeutic and diagnostic applications. Few studies have focussed directly on glycerol, however, and while its metabolism is increasingly well documented, much of the details remain unknown. Considering the importance of glycerol in multiple vital physiological processes, its study could help unlock important physiopathological mechanisms.

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Section: Athletic Performancessupporting

confidence: 74%

Glycerol: a neglected variable in metabolic processes?

et al. 2001

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“…In humans, glycerol deficiency is a genetic disease that causes hyperglycerolemia, mental retardation, and developmental disabilities (16). The nho1 mutant also accumulates a high concentration of glycerol (data not shown).…”

Section: Discussionmentioning

confidence: 91%

Interplay of the Arabidopsis nonhost resistance gene NHO1 with bacterial virulence

Zhao

et al. 2003

Proc. Natl. Acad. Sci. U.S.A.

145

128

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It is poorly understood why a particular plant species is resistant to the vast majority of potential pathogens that infect other plant species, a phenomenon referred to as ''nonhost'' resistance. Here, we show that Arabidopsis NHO1, encoding a glycerol kinase, is required for resistance to and induced by Pseudomonas syringae isolates from bean and tobacco. NHO1 is also required for resistance to the fungal pathogen Botrytis cinerea, indicating that NHO1 is not limited to bacterial resistance. Strikingly, P. s. pv. tomato DC3000, an isolate fully virulent on Arabidopsis, actively suppressed the NHO1 expression. This suppression is abolished in coi1 plants, indicating that DC3000 required an intact jasmonic acid signaling pathway in the plant to suppress NHO1 expression. Constitutive overexpression of NHO1 led to enhanced resistance to this otherwise virulent bacterium. The presence of avrB in DC3000, which activates a cultivar-specific ''gene-for-gene'' resistance in Arabidopsis, restored the induction of NHO1 expression. Thus, NHO1 is deployed for both general and specific resistance in Arabidopsis and targeted by the bacterium for parasitism.glycerol ͉ lipids ͉ parasitism ͉ JA ͉ Pseudomonas

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“…The severity of the disease is highly variable; the severe infantile form results from a contiguous gene deletion syndrome involving loss of the gene for glycerol kinase (GK) with all or part of the genes for Duchenne muscular dystrophy (DMD) or congenital adrenal hypoplasia (AHC) or both. In contrast, isolated GKD is not associated with AHC or DMD, and can manifest as an adult, benign2form or a juvenile form. The juvenile form shows phenotypic variation both between subjects from different families and within families 3-5.…”

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confidence: 92%

Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation

Sargent

2000

Journal of Medical Genetics

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Little is understood of the genotype/ phenotype correlations in X linked glycerol kinase deficiency (GKD) where most cases are caused by extensive deletions of Xp21, which often include genes flanking the GK locus. Few cases of isolated GKD have been investigated where the phenotype is not influenced by neighbouring genes. In this paper, we present the mutation data from four confirmed and one suspected case of non-deletion, isolated, X linked GKD and therefore extend the base of patients that can allow an assessment of genotype/phenotype correlations for this disease. The mutations found were two terminations leading to premature truncation of the GK polypeptide chain, one insertion, and an amino acid substitution. Phenotypic variation was observed in two families, where there was more than one aVected subject carrying the same mutation, confirming previous studies that suggest there is no correlation between disease severity and genotype. Furthermore, the nature of the mutation in diVerent families does not appear to influence the spectrum of phenotypic variation. In addition, one coding polymorphism in exon 3 has been found. The characterisation of the gene structure has been completed and shows that instead of 19 there are 21 exons. (J Med Genet 2000;37:434-441)

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Familial hyperglycerolemia.

Cited by 53 publications

References 23 publications

Glycerol: a neglected variable in metabolic processes?

Glycerol: a neglected variable in metabolic processes?

Interplay of the Arabidopsis nonhost resistance gene NHO1 with bacterial virulence

Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation

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