Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls. [PDF]
, 2007 Contains fulltext : 52444.pdf (Publisher’s version ) (Open Access)Hereditary fructose intolerance (HFI) is caused by a deficiency of aldolase B due to mutations of the ALDOB gene.
Morava, E. +9 more
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Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene [PDF]
, 2004 Hereditary fructose intolerance (HFI) is a recessively inherited disorder of carbohydrate metabolism caused by impaired functioning of human liver aldolase (B isoform; ALDOB).
SANTAMARIA, RITA +9 more
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The structure of human liver fructose-1,6-bisphosphate aldolase [PDF]
, 2002 The X-ray crystallographic structure of the human liver isozyme of fructose-1,6-bisphosphate aldolase has been determined by molecular replacement using a tetramer of the human muscle isozyme as a search model. The liver aldolase (B isozyme) crystallized
Tolan, D.R. +2 more
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Characterization of ketohexokinase as a therapeutic target for hereditary fructose intolerance and metabolic syndrome [PDF]
, 2020 Over the past forty years, there has been an increase in obesity, diabetes, and heart disease, collectively known as metabolic syndrome (MetS), in which fructose has been implicated. In addition to MetS, hereditary fructose intolerance (HFI) has no known
Gasper, William Clarke
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A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia [PDF]
, 1990 Hereditary fructose intolerance (HFI) is an autosomal recessive disease that results from a deficiency of aldolase B, the enzyme responsible for the assimilation of dietary fructose (1).
L. M. Stojanov +2 more
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Hereditary Fructose Intolerance: Functional Study of Two Novel ALDOB Natural Variants and Characterization of a Partial Gene Deletion [PDF]
, 2010 Hereditary fructose intolerance (HFI) is an autosomal recessive metabolic disease caused by impaired functioning of human liver aldolase (ALDOB). At least 54 subtle/point mutations and only two large intragenic deletions have been found in the ALDOB gene.
Benigno, Vincenzo +25 more
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Analysis of DTC nutrigenetic services in Italy: state of the art, agreement to the ESHG statement and future outlooks [PDF]
, 2012 Background: In both USA and Europe operate companies selling Direct-to-consumer genetic tests (DTC). These tests are offered to healthy people aiming to identify predispositions to complex diseases and to take preventive measures.
Michele Pinelli +7 more
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Human aldolase C: gene transcriptional regulation and protein functional role [PDF]
, 2011 Aldolase C is the brain-specific aldolase isoenzyme. In the human brain, aldolase C messenger and protein are expressed in a stripe-like pattern in the Purkinje cells of the cerebellum, in the inferior olives and in the Goll and Burdach nuclei of the ...
Serio, Laura
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Characterization of the brain as a site of fructose metabolism and of an aldolase B knockout mouse that mimics human hereditary fructose intolerance [PDF]
, 2016 Excessive fructose consumption in Western diets correlates with increases in obesity, insulin resistance, kidney disease, and non-alcoholic fatty liver disease (NAFLD), collectively part of metabolic syndrome (MBS). Liver and kidneys metabolize 50-70% of
Oppelt, Sarah Ann
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