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Adipocyte death defines macrophage localization and function in adipose tissue of obese mice and humans Published, JLR Papers in Press, September 8, 2005. DOI 10.1194/jlr.M500294-JLR200
TLDR
It is demonstrated that >90% of all macrophages in WAT of obese mice and humans are localized to dead adipocytes, where they fuse to form syncytia that sequester and scavenge the residual “free” adipocyte lipid droplet and ultimately form multinucleate giant cells, a hallmark of chronic inflammation. Expand
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics
TLDR
Data sets of RNA and protein expression are used to identify the gene causing Leigh syndrome, French-Canadian type (LSFC), a human cytochrome c oxidase deficiency that maps to chromosome 2p16-21, providing definitive genetic proof that LRPPRC indeed causes LSFC. Expand
Pathways and control of ketone body metabolism: on the fringe of lipid biochemistry.
TLDR
Consideration of ketone body metabolism reveals the mechanisms underlying the extreme fragility of dietary ketosis to carbohydrate intake and highlights areas for further study. Expand
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
TLDR
The importance of the glutamate receptor complexes in NSID is highlighted and the role of DNMs in this disorder is further supported, with significant excess of functional DNMs compared to neutral ones. Expand
Clinical course of sly syndrome (mucopolysaccharidosis type VII)
TLDR
MPS VII is a pan-ethnic inherited lysosomal storage disease with considerable phenotypical heterogeneity and most patients have short stature, skeletal dysplasia, hepatosplenomegaly, hernias, cardiac involvement, pulmonary insufficiency and cognitive impairment. Expand
Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus.
TLDR
It is shown here that Sim1 heterozygous mice are viable but develop early-onset obesity, with increased linear growth, hyperinsulinemia and hyperleptinemia, and proposed that abnormalities of PVN development cause the obesity of Sim1(+/-) mice. Expand
Long-term Outcome and Clinical Spectrum of 73 Pediatric Patients With Mitochondrial Diseases
TLDR
Multivariate analysis showed that age at first symptoms was a major independent predictor of mortality: patients with first symptoms before 6 months had a highly increased risk of mortality. Expand
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter
TLDR
The results show that ORNT1 encodes the mitochondrial ornithine transporter involved in UC function and is defective in HHH syndrome. Expand
Medical aspects of ketone body metabolism.
TLDR
The differential diagnosis of abnormalities of ketone body metabolism is summarized, as well as pertinent recent advances in research, to suggest the diagnosis of either hyperinsulinism or an inborn error of fat energy metabolism. Expand
Tyrosinemia: A Review
TLDR
Mouse models of this disease have permitted the exploration of newer treatment modalities, such as gene therapy by viral vectors, including ex vivo and in utero methods, and recent observations on spontaneous genetic reversion of the mutation in HT1 livers challenge conventional concepts in human genetics. Expand
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