Varaico: Literature-Extracted Genetic Variants

Gene:LYZ
Variant:p.D67H
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LYZ

NM_000239.3:p.D67H

Associated Papers

Cryo-EM structure of a lysozyme-derived amyloid fibril from hereditary amyloidosis.

Karimi-Farsijani S et al.

Nature Communications, 2024

Bullous Amyloidosis as a cutaneous feature of Familial Lysozyme Amyloidosis.

Islam R et al.

The Australasian Journal of Dermatology, 2024

Extending the reach of expert amyloidosis care: A feasibility study exploring the staged implementation of a UK amyloidosis network.

Choy CH et al.

Clinical Medicine (london, England), 2024

First Report of Lysozyme Amyloidosis with p.F21L/T88N Amino Acid Substitutions in a Russian Family.

Suvorina MY et al.

International Journal of Molecular Sciences, 2023

Lysozyme amyloidosis-a report on a large German cohort and the characterisation of a novel amyloidogenic lysozyme gene variant.

Anker S et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2022

Determination of deleterious single-nucleotide polymorphisms of human LYZ C gene: an in silico study.

Venkata Subbiah H et al.

Journal, Genetic Engineering & Biotechnology, 2022

Characterisation of the structural, dynamic and aggregation properties of the W64R amyloidogenic variant of human lysozyme.

Vettore N et al.

Biophysical Chemistry, 2021

The effects of mutation and modification on the structure and stability of human lysozyme: A molecular link between carbamylation and atherosclerosis.

Monhemi H et al.

Journal of Molecular Graphics & Modelling, 2020

In silico prediction of novel residues involved in amyloid primary nucleation of human I56T and D67H lysozyme.

Griffin JWD et al.

Bmc Structural Biology, 2018

Hereditary lysozyme amyloidosis with sicca syndrome, digestive, arterial, and tracheobronchial involvement: case-based review.

Benyamine A et al.

Clinical Rheumatology, 2017

The Significance of the Location of Mutations for the Native-State Dynamics of Human Lysozyme.

Ahn M et al.

Biophysical Journal, 2016

Lysozyme Mutants Accumulate in Cells while Associated at their N-terminal Alpha-domain with the Endoplasmic Reticulum Chaperone GRP78/BiP.

Kamada Y et al.

International Journal of Biological Sciences, 2016

Serum Amyloid P Component Ameliorates Neurological Damage Caused by Expressing a Lysozyme Variant in the Central Nervous System of Drosophila melanogaster.

Helmfors L et al.

Plos One, 2016

Amyloidogenic lysozymes accumulate in the endoplasmic reticulum accompanied by the augmentation of ER stress signals.

Kamada Y et al.

Biochimica Et Biophysica Acta, 2015

Utility and limitations of 3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in systemic amyloidosis.

Hutt DF et al.

European Heart Journal. Cardiovascular Imaging, 2014

A new family with hereditary lysozyme amyloidosis with gastritis and inflammatory bowel disease as prevailing symptoms.

Jean E et al.

Bmc Gastroenterology, 2014

A nanobody binding to non-amyloidogenic regions of the protein human lysozyme enhances partial unfolding but inhibits amyloid fibril formation.

De Genst E et al.

The Journal of Physical Chemistry. B, 2013

Dual role of an N-terminal amyloidogenic mutation in apolipoprotein A-I: destabilization of helix bundle and enhancement of fibril formation.

Adachi E et al.

The Journal of Biological Chemistry, 2013

Small molecules that target protein misfolding.

Gavrin LK et al.

Journal of Medicinal Chemistry, 2012

A new lysozyme tyr54asn mutation causing amyloidosis in a family of Swedish ancestry with gastrointestinal symptoms.

Girnius S et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2012

Hereditary lysozyme amyloidosis -- phenotypic heterogeneity and the role of solid organ transplantation.

Sattianayagam PT et al.

Journal of Internal Medicine, 2012

Disease-related amyloidogenic variants of human lysozyme trigger the unfolded protein response and disturb eye development in Drosophila melanogaster.

Kumita JR et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2012

Changes in Lysozyme Flexibility upon Mutation Are Frequent, Large and Long-Ranged.

Verma D et al.

Plos Computational Biology, 2012

Analysis of the native structure, stability and aggregation of biotinylated human lysozyme.

Ahn M et al.

Plos One, 2012

Native-state stability determines the extent of degradation relative to secretion of protein variants from Pichia pastoris.

Whyteside G et al.

Plos One, 2011

Local cooperativity in an amyloidogenic state of human lysozyme observed at atomic resolution.

Dhulesia A et al.

Journal of the American Chemical Society, 2010

A non-natural variant of human lysozyme (I59T) mimics the in vitro behaviour of the I56T variant that is responsible for a form of familial amyloidosis.

Hagan CL et al.

Protein Engineering, Design & Selection : Peds, 2010

A single destabilizing mutation (F9S) promotes concerted unfolding of an entire globular domain in gammaS-crystallin.

Lee S et al.

Journal of Molecular Biology, 2010

(1)H, (13)C and (15)N assignments of a camelid nanobody directed against human alpha-synuclein.

Vuchelen A et al.

Biomolecular Nmr Assignments, 2009

Unfolding and folding kinetics of amyotrophic lateral sclerosis-associated mutant Cu,Zn superoxide dismutases.

Rumfeldt JA et al.

Journal of Molecular Biology, 2009

Engineering a camelid antibody fragment that binds to the active site of human lysozyme and inhibits its conversion into amyloid fibrils.

Chan PH et al.

Biochemistry, 2008

Amyloid fibril formation of hen lysozyme depends on the instability of the C-helix (88-99).

Harada A et al.

Bioscience, Biotechnology, and Biochemistry, 2008

Relationship between the stability of hen egg-white lysozymes mutated at sites designed to interact with alpha-helix dipoles and their secretion amounts in yeast.

Harada A et al.

Bioscience, Biotechnology, and Biochemistry, 2007

Emergency liver transplantation for hereditary lysozyme amyloidosis.

Mells GF et al.

Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2006

Alpha-sheet: The toxic conformer in amyloid diseases?

Daggett V

Accounts of Chemical Research, 2006

Seeking confidence in the diagnosis of systemic AL (Ig light-chain) amyloidosis: patients can have both monoclonal gammopathies and hereditary amyloid proteins.

Comenzo RL et al.

Blood, 2006

Impact of the native-state stability of human lysozyme variants on protein secretion by Pichia pastoris.

Kumita JR et al.

The Febs Journal, 2006

ALys amyloidosis caused by compound heterozygosity in exon 2 (Thr70Asn) and exon 4 (Trp112Arg) of the lysozyme gene.

Röcken C et al.

Human Mutation, 2006

Lysozyme amyloidosis: report of 4 cases and a review of the literature.

Granel B et al.

Medicine, 2006

Rationalising lysozyme amyloidosis: insights from the structure and solution dynamics of T70N lysozyme.

Johnson RJ et al.

Journal of Molecular Biology, 2005

Oxidative refolding of amyloidogenic variants of human lysozyme.

Wain R et al.

Journal of Molecular Biology, 2005

Lysozyme: a paradigmatic molecule for the investigation of protein structure, function and misfolding.

Merlini G et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005

Ostertag revisited: the inherited systemic amyloidoses without neuropathy.

Benson MD

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2005

Underdiagnosed amyloidosis: amyloidosis of lysozyme variant.

Granel B et al.

The American Journal of Medicine, 2005

Reduced global cooperativity is a common feature underlying the amyloidogenicity of pathogenic lysozyme mutations.

Dumoulin M et al.

Journal of Molecular Biology, 2005

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