Literature DB >> 19459886

Glucocerebrosidase mutation H255Q appears to be exclusively in cis with D409H: structural implications.

J Vithayathil, G Gibney, A D Baxevanis, B K Stubblefield, E Sidransky, N Tayebi.   

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Year:  2009        PMID： 19459886      PMCID： PMC3341623          DOI： 10.1111/j.1399-0004.2009.01163.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  8 in total

1.  Homozygosity for the double D409H+H255Q allele in type II Gaucher disease.

Authors:  Helen Michelakakis; Marina Moraitou; Evagelia Dimitriou; Raul Santamaria; Gessami Sanchez; Laura Gort; Amparo Chabas; Daniel Grinberg; Maria Dassopoulou; Spyros Fotopoulos; Lluisa Vilageliu
Journal:  J Inherit Metab Dis       Date:  2006-07-08       Impact factor: 4.982

2.  Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.

Authors:  Raül Santamaria; Helen Michelakakis; Marina Moraitou; Evangelia Dimitriou; Silvia Dominissini; Serena Grossi; Gessamí Sánchez-Ollé; Amparo Chabás; María Gabriela Pittis; Mirella Filocamo; Lluïsa Vilageliu; Daniel Grinberg
Journal:  Hum Mutat       Date:  2008-06       Impact factor: 4.878

3.  Evaluation of comparative protein modeling by MODELLER.

Authors:  A Sali; L Potterton; F Yuan; H van Vlijmen; M Karplus
Journal:  Proteins       Date:  1995-11

Review 4.  Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.

Authors:  D L Stone; N Tayebi; E Orvisky; B Stubblefield; V Madike; E Sidransky
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

5.  X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease.

Authors:  Hay Dvir; Michal Harel; Andrew A McCarthy; Lilly Toker; Israel Silman; Anthony H Futerman; Joel L Sussman
Journal:  EMBO Rep       Date:  2003-07       Impact factor: 8.807

6.  Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.

Authors:  A Abrahamov; D Elstein; V Gross-Tsur; B Farber; Y Glaser; I Hadas-Halpern; S Ronen; M Tafakjdi; M Horowitz; A Zimran
Journal:  Lancet       Date:  1995-10-14       Impact factor: 79.321

7.  LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase.

Authors:  David Reczek; Michael Schwake; Jenny Schröder; Heather Hughes; Judith Blanz; Xiaoying Jin; William Brondyk; Scott Van Patten; Tim Edmunds; Paul Saftig
Journal:  Cell       Date:  2007-11-16       Impact factor: 41.582

Review 8.  Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

Authors:  Kathleen S Hruska; Mary E LaMarca; C Ronald Scott; Ellen Sidransky
Journal:  Hum Mutat       Date:  2008-05       Impact factor: 4.878
  8 in total
  6 in total

Review 1.  The clinical management of Type 2 Gaucher disease.

Authors:  Karin Weiss; Ashley Gonzalez; Grisel Lopez; Leah Pedoeim; Catherine Groden; Ellen Sidransky
Journal:  Mol Genet Metab       Date:  2014-11-14       Impact factor: 4.797

2.  Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease.

Authors:  Shahzeb Hassan; Grisel Lopez; Barbara K Stubblefield; Nahid Tayebi; Ellen Sidransky
Journal:  Mol Genet Metab       Date:  2018-06-28       Impact factor: 4.797

3.  Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humans.

Authors:  Klaus Harzer; Yotam Blech-Hermoni; Ehud Goldin; Ursula Felderhoff-Mueser; Claudia Igney; Ellen Sidransky; Yildiz Yildiz
Journal:  Biochem Biophys Res Commun       Date:  2012-05-30       Impact factor: 3.575

4.  Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression.

Authors:  Nevenka Ridova; Sanja Trajkova; Biljana Chonevska; Zlate Stojanoski; Martin Ivanovski; Marija Popova-Labachevska; Simona Stojanovska-Jakimovska; Venko Filipche; Aspazija Sofijanova; Irina Panovska-Stavridis
Journal:  Mol Genet Metab Rep       Date:  2022-07-08

Review 5.  Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.

Authors:  Emily C Daykin; Emory Ryan; Ellen Sidransky
Journal:  Mol Genet Metab       Date:  2021-01-09       Impact factor: 4.797

Review 6.  The Spectrum of Neurological Manifestations Associated with Gaucher Disease.

Authors:  Tamanna Roshan Lal; Ellen Sidransky
Journal:  Diseases       Date:  2017-03-02
  6 in total

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