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Mutant protein
Publication
Class
Person
Publication
Programmes
publication
Elucidation of the heme binding site of heme-regulated eukaryotic initiation factor 2 alpha kinase and the role of the regulatory motif in heme sensing by spectroscopic and catalytic studies of mutant proteins
2008 |
Faculty of Science, Central Library of Charles University
publication
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations
2020 |
First Faculty of Medicine
publication
Arabidopsis group Ie formins localize to specific cell membrane domains, interact with actin-binding proteins and cause defects in cell expansion upon aberrant expression.
2005 |
Faculty of Science
publication
Loss of function of Sco1 and its interaction with cytochrome c oxidase
2009 |
First Faculty of Medicine
publication
Biochemical and Structural Analysis of 14 Mutant ADSL Enzyme Complexes and Correlation to Phenotypic Heterogeneity of Adenylosuccinate Lyase Deficiency
2010 |
First Faculty of Medicine
publication
Advances in treatment of lysosomal storage diseases
2022 |
First Faculty of Medicine
publication
A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer
2020 |
Faculty of Medicine in Pilsen
publication
Polyomavirus Middle T-Antigen Is a Transmembrane Protein That Binds Signaling Proteins in Discrete Subcellular Membrane Sites
2011 |
Faculty of Science
publication
Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography
2000 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
2021 |
First Faculty of Medicine
publication
Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity
1995 |
Central Library of Charles University
publication
GM1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid beta-Galactosidase
2009 |
First Faculty of Medicine
publication
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome
2006 |
First Faculty of Medicine
publication
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria
2001 |
First Faculty of Medicine
publication
An eleven amino acid residue deletion expands the substrate specificity of acetyl xylan esterase II (AXE II) from Penicillium purpurogenum
2008 |
Second Faculty of Medicine
publication
Adenylosuccinate lyase deficiency
2015 |
First Faculty of Medicine
publication
Distinct clinicopathological features in metanephric adenoma harboring BRAF mutation
2017 |
Faculty of Medicine in Pilsen
publication
Conversion of a heme-based oxygen sensor to a heme oxygenase by hydrogen sulfide: effects of mutations in the heme distal side of a heme-based oxygen sensor phosphodiesterase (Ec DOS)
2013 |
Faculty of Science
publication
Characterization of Heme-Regulated eIF2R Kinase: Roles of the N-Terminal Domain in the Oligomeric State, Heme Binding, Catalysis, and Inhibition+
2006 |
Faculty of Science, Central Library of Charles University