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Items: 1 to 20 of 67

1.
Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance.
C C Brooks, N Buist, J Tuerck, D R Tolan
Am J Hum Genet. 1991 Nov; 49(5): 1075–1081.
PMCID:
PMC1683262
SummaryPage BrowsePDF–1.0M
2.
Intestinal, but not hepatic, ChREBP is required for fructose tolerance
MiSung Kim, Inna I. Astapova, Sarah N. Flier, Sarah A. Hannou, Ludivine Doridot, Ashot Sargsyan, Henry H. Kou, Alan J. Fowler, Guosheng Liang, Mark A. Herman
JCI Insight. 2017 Dec 21; 2(24): e96703. Published online 2017 Dec 21. doi: 10.1172/jci.insight.96703
PMCID:
PMC5752301
AbstractArticlePDF–5.8M
3.
Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency
Niu Li, Guoying Chang, Yufei Xu, Yu Ding, Guoqiang Li, Tingting Yu, Yanrong Qing, Juan Li, Yiping Shen, Jian Wang, Xiumin Wang
Int J Mol Sci. 2017 Apr; 18(4): 857. Published online 2017 Apr 18. doi: 10.3390/ijms18040857
PMCID:
PMC5412439
AbstractArticlePDF–2.9M
4.
Activation of AMPD2 drives metabolic dysregulation and liver disease in mice with hereditary fructose intolerance
Ana Andres-Hernando, David J. Orlicky, Masanari Kuwabara, Mehdi A. Fini, Dean R. Tolan, Richard J. Johnson, Miguel A. Lanaspa
Commun Biol. 2024; 7: 849. Published online 2024 Jul 11. doi: 10.1038/s42003-024-06539-1
PMCID:
PMC11239681
AbstractArticlePDF–2.8M
5.
STABILIZATION OF THE PREDOMINANT DISEASE-CAUSING ALDOLASE VARIANT (A149P) WITH ZWITTERIONIC OSMOLYTES
Jack D. Stopa, Sushil Chandani, Dean R. Tolan
Biochemistry. Author manuscript; available in PMC 2012 Feb 8.
Published in final edited form as: Biochemistry. 2011 Feb 8; 50(5): 663–671. Published online 2011 Jan 11. doi: 10.1021/bi101523x
PMCID:
PMC3034293
AbstractArticlePDF–1.3M
6.
Mutations in the Promoter Region of the Aldolase B Gene that cause Hereditary Fructose Intolerance
Erin M. Coffee, Dean R. Tolan
J Inherit Metab Dis. Author manuscript; available in PMC 2011 Dec 1.
Published in final edited form as: J Inherit Metab Dis. 2010 Dec; 33(6): 715–725. Published online 2010 Sep 30. doi: 10.1007/s10545-010-9192-5
PMCID:
PMC2993836
AbstractArticlePDF–703K
7.
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population
Erin M. Coffee, Laura Yerkes, Elizabeth P. Ewen, Tiffany Zee, Dean R. Tolan
J Inherit Metab Dis. Author manuscript; available in PMC 2010 Oct 14.
Published in final edited form as: J Inherit Metab Dis. 2010 Feb; 33(1): 33–42. Published online 2009 Dec 23. doi: 10.1007/s10545-009-9008-7
PMCID:
PMC2954661
AbstractArticlePDF–130K
8.
A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency
Hidde H. Huidekoper, Gepke Visser, Mariëtte T. Ackermans, Hans P. Sauerwein, Frits A. Wijburg
J Inherit Metab Dis. 2010; 33(1): 25–31. Published online 2010 Feb 2. doi: 10.1007/s10545-009-9030-9
PMCID:
PMC2828550
AbstractArticlePDF–161K
9.
Adult hereditary fructose intolerance
Mohamed Ismail Yasawy, Ulrich Richard Folsch, Wolfgang Eckhard Schmidt, Michael Schwend
World J Gastroenterol. 2009 May 21; 15(19): 2412–2413. Published online 2009 May 21. doi: 10.3748/wjg.15.2412
PMCID:
PMC2684612
AbstractArticlePDF–488K
10.
Hereditary fructose intolerance and α1 antitrypsin deficiency
G Hillebrand, R Schneppenheim, H Oldigs, R Santer
Arch Dis Child. 2000 Jul; 83(1): 72–73. doi: 10.1136/adc.83.1.72
PMCID:
PMC1718408
SummaryPDF–106K
11.
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.
Y Kikawa, M Inuzuka, B Y Jin, S Kaji, J Koga, Y Yamamoto, K Fujisawa, I Hata, A Nakai, Y Shigematsu, H Mizunuma, A Taketo, M Mayumi, M Sudo
Am J Hum Genet. 1997 Oct; 61(4): 852–861. doi: 10.1086/514875
PMCID:
PMC1715983
SummaryPage BrowsePDF–1.8M
12.
Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene.
S Kajihara, T Mukai, Y Arai, M Owada, T Kitagawa, K Hori
Am J Hum Genet. 1990 Sep; 47(3): 562–567.
PMCID:
PMC1683875
SummaryPage BrowsePDF–1.0M
13.
Molecular evidence for compound heterozygosity in hereditary fructose intolerance.
C Dazzo, D R Tolan
Am J Hum Genet. 1990 Jun; 46(6): 1194–1199.
PMCID:
PMC1683824
SummaryPage BrowsePDF–941K
14.
Partial aldolase B gene deletions in hereditary fructose intolerance.
N C Cross, T M Cox
Am J Hum Genet. 1990 Jul; 47(1): 101–106.
PMCID:
PMC1683764
SummaryPage BrowsePDF–1003K
15.
A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis
René Santer, Marcel du Moulin, Tatevik Shahinyan, Inga Vater, Esther Maier, Ania C. Muntau, Beat Steinmann
Orphanet J Rare Dis. 2016; 11: 44. Published online 2016 Apr 21. doi: 10.1186/s13023-016-0415-1
PMCID:
PMC4839065
AbstractArticlePDF–1.0M
16.
Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene.
C C Brooks, D R Tolan
Am J Hum Genet. 1993 Apr; 52(4): 835–840.
PMCID:
PMC1682077
SummaryPage BrowsePDF–1.1M
17.
Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase.
R Santamaria, G Esposito, L Vitagliano, V Race, I Paglionico, L Zancan, A Zagari, F Salvatore
Biochem J. 2000 Sep 15; 350(Pt 3): 823–828.
PMCID:
PMC1221316
SummaryPDF–224K
18.
Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337-->Val) in fructose intolerance.
P Rellos, M Ali, M Vidailhet, J Sygusch, T M Cox
Biochem J. 1999 May 15; 340(Pt 1): 321–327.
PMCID:
PMC1220251
SummaryPDF–164K
19.
Isolation and characterization of a mutant liver aldolase in adult hereditary fructose intolerance. Identification of the enzyme variant by radioassay in tissue biopsy specimens
Timothy M. Cox, Martin W. O'Donnell, Michael Camilleri, Arthur H. Burghes
J Clin Invest. 1983 Jul; 72(1): 201–213. doi: 10.1172/JCI110958
PMCID:
PMC1129175
SummaryPage BrowsePDF–2.8M
20.
Hereditary fructose intolerance.
M Ali, P Rellos, T M Cox
J Med Genet. 1998 May; 35(5): 353–365. doi: 10.1136/jmg.35.5.353
PMCID:
PMC1051308
SummaryPage BrowsePDF–3.2M

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