Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase

Autor: Chiara Cimmaruta, Valentina Citro, Giuseppina Andreotti, Ludovica Liguori, Maria Vittoria Cubellis, Bruno Hay Mele

Publikováno v: BMC Bioinformatics, Vol 19, Iss S15, Pp 39-46 (2018)

Abstract Background Severity gradation of missense mutations is a big challenge for exome annotation. Predictors of deleteriousness that are most frequently used to filter variants found by next generation sequencing, produce qualitative predictions,

Externí odkaz: https://doaj.org/article/cf7aa86ffc894da5afe73be8e7f0bf20

A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG.

Autor: Valentina Citro, Chiara Cimmaruta, Ludovica Liguori, Gaetano Viscido, Maria Vittoria Cubellis, Giuseppina Andreotti

Publikováno v: PLoS ONE, Vol 12, Iss 12, p e0189629 (2017)

The most frequent disorder of glycosylation, PMM2-CDG, is caused by a deficiency of phosphomannomutase activity. In humans two paralogous enzymes exist, both of them require mannose 1,6-bis-phosphate or glucose 1,6-bis-phosphate as activators, but on

Externí odkaz: https://doaj.org/article/9b610ba074a14368aa953ad37048fe3e

Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease

Autor: Anja U. Bräuer, Maria Vittoria Cubellis, Georg Fuellen, Jan Lukas, Anne-Katrin Giese, Arndt Rolfs, Mathias Ernst, Giuseppina Andreotti, Stephan Struckmann, Andreas Hermann, Linda Rebecca Haake, Anne-Marie Knospe, Claudia Cozma, Valentina Citro, Susanne Seemann, Chiara Cimmaruta, Dirk Koczan

Publikováno v: Biochemical journal (Online) (2020). doi:10.1042/BCJ20190513
info:cnr-pdr/source/autori:Susanne Seemann ; Mathias Ernst ; Chiara Cimmaruta ; Stephan Struckmann ; Claudia Cozma ; Dirk Koczan ; Anne-Marie Knospe ; Linda R Haake ; Valentina Citro ; Anja U Bräuer ; Giuseppina Andreotti ; Maria V Cubellis ; Georg Fuellen ; Andreas Hermann ; Anne-Katrin Giese ; Arndt Rolfs ; Jan Lukas/titolo:Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypesin Fabry disease/doi:10.1042%2FBCJ20190513/rivista:Biochemical journal (Online)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume
The biochemical journal / Reviews 477(2), 359-380 (2020). doi:10.1042/BCJ20190513
Biochemical Journal

The lysosomal storage disorder Fabry disease is characterized by a deficiency of the lysosomal enzyme α-Galactosidase A. The observation that missense variants in the encoding GLA gene often lead to structural destabilization, endoplasmic reticulum

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfda54713078b2d84fa25ecc480bef0a
https://doi.org/10.1042/bcj20190513

Reactive Species in Progeroid Syndromes and Aging-Related Processes

Autor: Cristina Fernandez Molina, Clément Crochemore, Miria Ricchetti, Chiara Cimmaruta

Publikováno v: Antioxidants and Redox Signaling
Antioxidants and Redox Signaling, 2021, ⟨10.1089/ars.2020.8242⟩
Antioxidants and Redox Signaling, Mary Ann Liebert, 2021, ⟨10.1089/ars.2020.8242⟩

Significance Reactive species have been classically considered causative of age-related degenerative processes, but the scenario appears considerably more complex and to some extent counterintuitive than originally anticipated. The impact of reactive

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f3841e7461c2f0c0d4e0d9c192ea58d
https://pubmed.ncbi.nlm.nih.gov/34428933

Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase

Autor: Giuseppina Andreotti, Bruno Hay Mele, Ludovica Liguori, Maria Vittoria Cubellis, Valentina Citro, Chiara Cimmaruta

Publikováno v: BMC bioinformatics 19 (2018). doi:10.1186/s12859-018-2416-7
info:cnr-pdr/source/autori:Cimmaruta C.; Citro V.; Andreotti G.; Liguori L.; Cubellis M.V.; Hay Mele B./titolo:Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase/doi:10.1186%2Fs12859-018-2416-7/rivista:BMC bioinformatics/anno:2018/pagina_da:/pagina_a:/intervallo_pagine:/volume:19
BMC Bioinformatics
BMC Bioinformatics, Vol 19, Iss S15, Pp 39-46 (2018)

Background Severity gradation of missense mutations is a big challenge for exome annotation. Predictors of deleteriousness that are most frequently used to filter variants found by next generation sequencing, produce qualitative predictions, but also

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e27adbb6024d006a97bf702edd9258a3
https://doi.org/10.1186/s12859-018-2416-7