Literature DB >> 24388568

Krabbe disease: are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations?

David A Wenger1, Paola Luzi2, Mohammad A Rafi2.   

Abstract

Entities:  

Keywords:  Expression studies; Galactocerebrosidase (GALC); Krabbe disease; Mutations; Newborn screening; Polymorphisms

Mesh：

Substances：

Year:  2013        PMID： 24388568     DOI： 10.1016/j.ymgme.2013.12.009

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  14 in total

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Authors:  Joseph J Orsini; Carlos A Saavedra-Matiz; Michael H Gelb; Michele Caggana
Journal:  J Neurosci Res       Date:  2016-11       Impact factor: 4.164

2.  Evidence for improved survival in postsymptomatic stem cell-transplanted patients with Krabbe's disease.

Authors:  Thomas J Langan; Amy L Barcykowski; Jonathan Dare; Erin C Pannullo; Leah Muscarella; Randy L Carter
Journal:  J Neurosci Res       Date:  2016-11       Impact factor: 4.164

3.  The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.

Authors:  Evangelia Dimitriou; Monica Cozar; Irene Mavridou; Daniel Grinberg; Lluïsa Vilageliu; Helen Michelakakis
Journal:  JIMD Rep       Date:  2015-06-25

4.  A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.

Authors:  Feyza Nur Tuncer; Sibel Aylin Ugur Iseri; Zuhal Yapici; Mahmut Demir; Meryem Karaca; Mustafa Calik
Journal:  Neurol Sci       Date:  2018-09-12       Impact factor: 3.307

5.  Should states adopt newborn screening for early infantile Krabbe disease?

Authors:  David P Dimmock
Journal:  Genet Med       Date:  2016-02-04       Impact factor: 8.822

Review 6.  New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperones.

Authors:  Samantha J Spratley; Janet E Deane
Journal:  J Neurosci Res       Date:  2016-11       Impact factor: 4.164

7.  Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.

Authors:  Samantha J Spratley; Chris H Hill; Agnete H Viuff; James R Edgar; Karsten Skjødt; Janet E Deane
Journal:  Traffic       Date:  2016-05-30       Impact factor: 6.215

Review 8.  Abnormal Sphingolipid World in Inflammation Specific for Lysosomal Storage Diseases and Skin Disorders.

Authors:  Marta Moskot; Katarzyna Bocheńska; Joanna Jakóbkiewicz-Banecka; Bogdan Banecki; Magdalena Gabig-Cimińska
Journal:  Int J Mol Sci       Date:  2018-01-15       Impact factor: 5.923

9.  Analysis of age-related changes in psychosine metabolism in the human brain.

Authors:  Michael S Marshall; Benas Jakubauskas; Wil Bogue; Monika Stoskute; Zane Hauck; Emily Rue; Matthew Nichols; Lisa L DiAntonio; Richard B van Breemen; Jeffrey H Kordower; Carlos A Saavedra-Matiz; Ernesto R Bongarzone
Journal:  PLoS One       Date:  2018-02-26       Impact factor: 3.240

10.  Natural history of Krabbe disease - a nationwide study in Germany using clinical and MRI data.

Authors:  Sarah Isabel Krieg; Ingeborg Krägeloh-Mann; Samuel Groeschel; Stefanie Beck-Wödl; Ralf A Husain; Ludger Schöls; Christiane Kehrer
Journal:  Orphanet J Rare Dis       Date:  2020-09-10       Impact factor: 4.123
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