Literature DB >> 11151421

Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease.

S Selleri, E Torchiana, D Pareyson, L Lulli, B Bertagnolio, M Savoiardo, L Farina, F Carrara, M Filocamo, R Gatti, A Sghirlanzoni, G Uziel, G Finocchiaro.   

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Year:  2000        PMID： 11151421     DOI： 10.1007/s004150070076

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  7 in total

1.  Insights into Krabbe disease from structures of galactocerebrosidase.

Authors:  Janet E Deane; Stephen C Graham; Nee Na Kim; Penelope E Stein; Rosamund McNair; M Begoña Cachón-González; Timothy M Cox; Randy J Read
Journal:  Proc Natl Acad Sci U S A       Date:  2011-08-29       Impact factor: 11.205

2.  Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones.

Authors:  Wing C Lee; Dongcheul Kang; Ena Causevic; Aimee R Herdt; Elizabeth A Eckman; Christopher B Eckman
Journal:  J Neurosci       Date:  2010-04-21       Impact factor: 6.167

3.  Structural snapshots illustrate the catalytic cycle of β-galactocerebrosidase, the defective enzyme in Krabbe disease.

Authors:  Chris H Hill; Stephen C Graham; Randy J Read; Janet E Deane
Journal:  Proc Natl Acad Sci U S A       Date:  2013-12-02       Impact factor: 11.205

4.  The potential of stem cells for the treatment of brain tumors and globoid cell leukodystrophy.

Authors:  Patrizia Tunici; Serena Pellegatta; Gaetano Finocchiaro
Journal:  Cytotechnology       Date:  2003-03       Impact factor: 2.058

5.  Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.

Authors:  Barbara Tappino; Roberta Biancheri; Matthew Mort; Stefano Regis; Fabio Corsolini; Andrea Rossi; Marina Stroppiano; Susanna Lualdi; Agata Fiumara; Bruno Bembi; Maja Di Rocco; David N Cooper; Mirella Filocamo
Journal:  Hum Mutat       Date:  2010-12       Impact factor: 4.878

6.  Compound heterozygous pathogenic variants in the GALC gene cause infant-onset Krabbe disease.

Authors:  Xiaoli Zhang; Guohui Niu; Panpan Song; Lijun Wang; Rui Han; Manman Chu; Qiliang Guo; Zhao Xu; Lihong Yan; Tianming Jia
Journal:  Transl Pediatr       Date:  2021-10

Review 7.  Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.

Authors:  Valentina La Cognata; Sebastiano Cavallaro
Journal:  Biomedicines       Date:  2022-07-29
  7 in total

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