Journal ArticleDOI
Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
Pauline Gaignard,Jérôme Fagart,Natalia Niemir,Natalia Niemir,Jean-Philippe Puech,Emilie Azouguene,Jeanne Dussau,Catherine Caillaud,Catherine Caillaud +8 more
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TLDR
A rapid detection of the Sandhoff disease-causing alleles facilitating genetic counselling and prenatal diagnosis in at-risk families is reported.About:
This article is published in Gene.The article was published on 2013-01-10. It has received 20 citations till now. The article focuses on the topics: HEXB & Sandhoff disease.read more
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Journal ArticleDOI
Natural history of adult patients with GM2 gangliosidosis
Marion Masingue,Louis Dufour,Timothée Lenglet,Lisa Saleille,Cyril Goizet,Xavier Ayrignac,Fabienne Ory-Magne,Magali Barth,Foudil Lamari,Daniele Mandia,Catherine Caillaud,Yann Nadjar +11 more
TL;DR: The natural history of adult patients with GM2 gangliosidosis is clarified to clarify the nature of childhood onset and first symptoms during adolescence/adulthood.
Journal ArticleDOI
Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations
Ali Reza Tavasoli,Nima Parvaneh,Mahmoud Reza Ashrafi,Zahra Rezaei,Johannes Zschocke,Parastoo Rostami +5 more
TL;DR: Clinical course and demographic features in a case series of infantile Sandhoff disease, a GM2 gangliosidosis that is classified as a lysosomal storage disorder, are reported.
Journal ArticleDOI
Identification of microRNAs with Dysregulated Expression in Status Epilepticus Induced Epileptogenesis
Mykaella Andrade de Araújo,Thalita Ewellyn Batista Sales Marques,Shirley Octacílio-Silva,Carmem Lúcia de Arroxelas-Silva,Marília Gabriella Alves Goulart Pereira,Jose Eduardo Peixoto-Santos,Ludmyla Kandratavicius,João Pereira Leite,Norberto Garcia-Cairasco,Olagide W. Castro,Marcelo Duzzioni,Geraldo Aleixo Silva Passos,Maria Luisa Paçó-Larson,Daniel Leite Góes Gitaí +13 more
TL;DR: A miRNA microarray analysis of the hippocampus of Wistar rats 24 hours after intra-hippocampal pilocarpine-induced Status Epilepticus (H-PILO SE) successfully identified two novel dysregulated miRNAs (196b-5p and 352) and confirmed miR-128a-3p downregulation in SE-induced epileptogenesis.
Journal ArticleDOI
Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis
Braden Fitterer,Patricia L. Hall,Patricia L. Hall,Nick A. Antonishyn,Rajagopal Desikan,Michael H. Gelb,Denis C. Lehotay +6 more
TL;DR: The estimated carrier frequency of Sandhoff disease in Saskatchewan at 1:15 is more than 3 times higher than the carrier frequency in the global sample provided by the 1000 Genomes project at 1.57.
Journal ArticleDOI
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
TL;DR: The method developed in this study holds promise as a tool that can be broadly applicable to other lysosomal diseases and monogenic diseases.
References
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Journal ArticleDOI
Improved methods for building protein models in electron density maps and the location of errors in these models.
TL;DR: In this paper, the authors describe strategies and tools that help to alleviate this problem and simplify the model-building process, quantify the goodness of fit of the model on a per-residue basis and locate possible errors in peptide and side-chain conformations.
Journal ArticleDOI
A method and server for predicting damaging missense mutations.
Ivan Adzhubei,Steffen Schmidt,Leonid Peshkin,Vasily Ramensky,Anna Gerasimova,Peer Bork,Alexey S. Kondrashov,Shamil R. Sunyaev +7 more
TL;DR: A new method and the corresponding software tool, PolyPhen-2, which is different from the early tool polyPhen1 in the set of predictive features, alignment pipeline, and the method of classification is presented and performance, as presented by its receiver operating characteristic curves, was consistently superior.
Journal ArticleDOI
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
François Olivier Desmet,Dalil Hamroun,Marine Lalande,Gwenaëlle Collod-Béroud,Mireille Claustres,Christophe Béroud +5 more
TL;DR: Human Splicing Finder is designed, a tool to predict the effects of mutations on splicing signals or to identify splicing motifs in any human sequence, and it is shown that the mutation effect was correctly predicted in almost all cases.
Journal ArticleDOI
One Fold with Many Functions: The Evolutionary Relationships between TIM Barrel Families Based on their Sequences, Structures and Functions
TL;DR: The eightfold barrel structure, first observed in triose-phosphate isomerase, occurs ubiquitously in nature and is an extreme example of the "one fold-many functions" paradigm, which illustrates the difficulty of assigning function through a structural genomics approach for some folds.
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Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.
Michael Krawczak,Nicholas Stuart Tudor Thomas,Bernd Hundrieser,Matthew Mort,Michael Wittig,Jochen Hampe,David Neil Cooper +6 more
TL;DR: A meta‐analysis of 478 disease‐associated splicing mutations, in 38 different genes, reveals that exon skipping was the preferred phenotype when the immediate vicinity of the affected exon–intron junctions was devoid of alternative splice‐sites, and estimates that some 1.6% of disease‐causing missense substitutions in human genes are likely to affect the mRNA splicing phenotype.