The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A.
Reads0
Chats0
TLDR
The three-dimensional structure of human GALNS is reported, which establishes the molecular basis for MPS IV A and for the larger MPS family of diseases.About:
This article is published in Journal of Molecular Biology.The article was published on 2012-11-09 and is currently open access. It has received 112 citations till now. The article focuses on the topics: Mucopolysaccharidosis IV & Lysosomal storage disease.read more
Citations
More filters
Journal ArticleDOI
Matching the Diversity of Sulfated Biomolecules: Creation of a Classification Database for Sulfatases Reflecting Their Substrate Specificity.
Tristan Barbeyron,Loraine Brillet-Guéguen,Wilfrid Carré,Cathelène Carrière,Christophe Caron,Mirjam Czjzek,Mark Hoebeke,Gurvan Michel +7 more
TL;DR: A classification database, SulfAtlas, is proposed, based on sequence homology and composed of four families of sulfatases, divided by phylogenetic approach into 73 subfamilies, each subfamily corresponding to either a known specificity or to an uncharacterized substrate.
Journal ArticleDOI
Lysosomal enzyme replacement therapies: Historical development, clinical outcomes, and future perspectives.
Melani Solomon,Silvia Muro +1 more
TL;DR: An overview of the biomedical causes of LDs, their socio‐medical relevance, treatment modalities and caveats, experimental alternatives, and future treatment perspectives is offered.
Journal ArticleDOI
Regulation of lysosomal ion homeostasis by channels and transporters
Jian Xiong,Michael X. Zhu +1 more
TL;DR: This review will focus on the current knowledge of lysosome-resident ion channels and transporters, discuss their roles in maintaining lysOSomal function, and evaluate how their dysfunction can result in disease.
Journal ArticleDOI
Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.
Mykhaylo Demydchuk,Chris H. Hill,Chris H. Hill,Aiwu Zhou,Gábor Bunkóczi,Penelope E. Stein,Denis Marchesan,Janet E. Deane,Randy J. Read +8 more
TL;DR: The crystal structure of human IDS with a covalently bound sulfate ion in the active site is presented, providing essential insight into multiple mechanisms by which pathogenic mutations interfere with enzyme function, and a compelling explanation for severe Hunter syndrome phenotypes.
Journal ArticleDOI
Morquio A Syndrome-Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus-Specific Database
Amelia Morrone,Anna Caciotti,Robert Atwood,K. Davidson,Chaoyi Du,Patricia Francis-Lyon,Paul Harmatz,Matthew Mealiffe,Sean D. Mooney,Tal Ronnen Oron,April B. Ryles,Karl A Zawadzki,Nicole Miller +12 more
TL;DR: A locus‐specific database for the GAL NS gene is created that catalogs all reported alterations in GALNS to date and highlights the challenges both in alteration detection and genotype–phenotype interpretation caused in part by the heterogeneity of GALns alterations.
References
More filters
Journal ArticleDOI
Gapped BLAST and PSI-BLAST: a new generation of protein database search programs.
Stephen F. Altschul,Thomas L. Madden,Alejandro A. Schäffer,Jinghui Zhang,Zheng Zhang,Webb Miller,David J. Lipman +6 more
TL;DR: A new criterion for triggering the extension of word hits, combined with a new heuristic for generating gapped alignments, yields a gapped BLAST program that runs at approximately three times the speed of the original.
Journal ArticleDOI
Clustal w: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice
TL;DR: The sensitivity of the commonly used progressive multiple sequence alignment method has been greatly improved and modifications are incorporated into a new program, CLUSTAL W, which is freely available.
Book ChapterDOI
Processing of X-ray diffraction data collected in oscillation mode
Zbyszek Otwinowski,Wladek Minor +1 more
TL;DR: The methods presented in the chapter have been applied to solve a large variety of problems, from inorganic molecules with 5 A unit cell to rotavirus of 700 A diameters crystallized in 700 × 1000 × 1400 A cell.
Journal ArticleDOI
Coot: model-building tools for molecular graphics.
Paul Emsley,Kevin Cowtan +1 more
TL;DR: CCP4mg is a project that aims to provide a general-purpose tool for structural biologists, providing tools for X-ray structure solution, structure comparison and analysis, and publication-quality graphics.