Literature DB >> 8880583

Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.

R Santamaria1, S Tamasi, G Del Piano, G Sebastio, G Andria, C Borrone, G Faldella, P Izzo, F Salvatore.   

Abstract

We screened the aldolase B gene in 14 unrelated Italian patients with hereditary fructose intolerance (HFI), and found two novel disease related mutations: a single nucleotide deletion in exon 2 (delta A20) that leads to an early stop codon, and a C-->T transition in exon 8 that substitutes an Arg with a Trp residue at codon 303 (R303W).

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Year:  1996        PMID： 8880583      PMCID： PMC1050737          DOI： 10.1136/jmg.33.9.786

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  8 in total

1.  Activity and specificity of human aldolases.

Authors:  S J Gamblin; G J Davies; J M Grimes; R M Jackson; J A Littlechild; H C Watson
Journal:  J Mol Biol       Date:  1991-06-20       Impact factor: 5.469

2.  Novel short interspersed repeat in human DNA.

Authors:  D J Kaplan; C H Duncan
Journal:  Nucleic Acids Res       Date:  1990-01-11       Impact factor: 16.971

3.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

4.  DNA diagnosis of fatal fructose intolerance from archival tissue.

Authors:  M Ali; U Rosien; T M Cox
Journal:  Q J Med       Date:  1993-01

5.  Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance.

Authors:  M Ali; G Sebastio; T M Cox
Journal:  Hum Mol Genet       Date:  1994-01       Impact factor: 6.150

Review 6.  Aldolase B and fructose intolerance.

Authors:  T M Cox
Journal:  FASEB J       Date:  1994-01       Impact factor: 5.191

7.  Molecular evidence for compound heterozygosity in hereditary fructose intolerance.

Authors:  C Dazzo; D R Tolan
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025

8.  Molecular analysis of aldolase B genes in hereditary fructose intolerance.

Authors:  N C Cross; R de Franchis; G Sebastio; C Dazzo; D R Tolan; C Gregori; M Odievre; M Vidailhet; V Romano; G Mascali
Journal:  Lancet       Date:  1990-02-10       Impact factor: 79.321
  8 in total
  8 in total

1.  Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance.

Authors:  Zhen-Ni Chi; Jie Hong; Jun Yang; Hui-Jie Zhang; Meng Dai; Bin Cui; Yu Zhang; Wei-Qiong Gu; Yi-Fei Zhang; Qiao-Rui Liu; Wei-Qing Wang; Xiao-Ying Li; Guang Ning
Journal:  Endocrine       Date:  2007-10-23       Impact factor: 3.633

2.  Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase.

Authors:  R Santamaria; G Esposito; L Vitagliano; V Race; I Paglionico; L Zancan; A Zagari; F Salvatore
Journal:  Biochem J       Date:  2000-09-15       Impact factor: 3.857

3.  Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function.

Authors:  Gabriella Esposito; Luigi Vitagliano; Paola Costanzo; Loredana Borrelli; Rita Barone; Lorenzo Pavone; Paola Izzo; Adriana Zagari; Francesco Salvatore
Journal:  Biochem J       Date:  2004-05-15       Impact factor: 3.857

Review 4.  Hereditary fructose intolerance.

Authors:  M Ali; P Rellos; T M Cox
Journal:  J Med Genet       Date:  1998-05       Impact factor: 6.318

5.  Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.

Authors:  Erin M Coffee; Laura Yerkes; Elizabeth P Ewen; Tiffany Zee; Dean R Tolan
Journal:  J Inherit Metab Dis       Date:  2009-12-23       Impact factor: 4.982

6.  Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.

Authors:  M P Sperandeo; M T Bassi; M Riboni; G Parenti; A Buoninconti; M Manzoni; B Incerti; M R Larocca; M Di Rocco; P Strisciuglio; I Dianzani; R Parini; M Candito; F Endo; A Ballabio; G Andria; G Sebastio; G Borsani
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

Review 7.  Genetic diseases that predispose to early liver cirrhosis.

Authors:  Manuela Scorza; Ausilia Elce; Federica Zarrilli; Renato Liguori; Felice Amato; Giuseppe Castaldo
Journal:  Int J Hepatol       Date:  2014-07-14

Review 8.  Estimation of hereditary fructose intolerance prevalence in the Chinese population.

Authors:  Meiling Tang; Xiang Chen; Qi Ni; Yulan Lu; Bingbing Wu; Huijun Wang; Zhaoqing Yin; Wenhao Zhou; Xinran Dong
Journal:  Orphanet J Rare Dis       Date:  2022-08-26       Impact factor: 4.303
  8 in total

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