The genetic basis of asymptomatic codon 8 frame-shift (HBB:c25_26delAA) β0-thalassaemia homozygotes

Autor: Sule Unal, Bernard G. Forget, Nejat Akar, Martin H. Steinberg, A. Nazli Basak, Fatma Gumruk, Catherine Badens, Patrick G. Gallagher, Leonor Osorio, Serge Pissard, Nasir A. S. Al-Allawi, Roger Théberge, Andrew D. Campbell, John J. Farrell, Zhihua Jiang, Suchada Riolueang, Philippe Joly, Hong-Yuan Luo, Shengwen Huang, Katherine A. Benson, Vip Viprakasit, Lance Davis, David H.K. Chui

Publikováno v: British Journal of Haematology
British Journal of Haematology, 2016, 172 (6), pp.958-965. ⟨10.1111/bjh.13909⟩
British Journal of Haematology, Wiley, 2016, 172 (6), pp.958-965. ⟨10.1111/bjh.13909⟩

Two 21-year old dizygotic twin men of Iraqi descent were homozygous for HBB codon 8, deletion of two nucleotides (-AA) frame-shift β(0) -thalassaemia mutation (FSC8; HBB:c25_26delAA). Both were clinically well, had splenomegaly, and were never trans

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00e7af49334542d5d63926d0c869ad19
https://doi.org/10.1111/bjh.13909

MALDI-ISD Mass Spectrometry Analysis of Hemoglobin Variants: a Top-Down Approach to the Characterization of Hemoglobinopathies

Autor: David H.K. Chui, Christian F. Heckendorf, Mark E. McComb, Catherine E. Costello, Roger Théberge, Sergei Dikler

Publikováno v: Journal of the American Society for Mass Spectrometry. 26:1299-1310

Hemoglobinopathies are the most common inherited disorders in humans and are thus the target of screening programs worldwide. Over the past decade, mass spectrometry (MS) has gained a more important role as a clinical means to diagnose variants, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a7803ede9cbb41b6cf594e74473e11d
https://doi.org/10.1007/s13361-015-1164-4

The biochemical origins of the surface enhanced Raman spectra of bacteria: metabolomics profiling by SERS

Autor: Alexis F. Sauer-Budge, Jean C. Lee, Catherine E. Costello, Lawrence D. Ziegler, Roger Théberge, W. Ranjith Premasiri

The dominant molecular species contributing to the surface-enhanced Raman spectroscopy (SERS) spectra of bacteria excited at 785 nm are the metabolites of purine degradation: adenine, hypoxanthine, xanthine, guanine, uric acid, and adenosine monophos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cc4591aa0a8a32f3e0e057844ddd23a
https://europepmc.org/articles/PMC4911336/

Amyloidogenic and Associated Proteins in Systemic Amyloidosis Proteome of Adipose Tissue

Autor: David H. Perlman, Mark E. McComb, Lawreen H. Connors, Martha Skinner, Vittorio Bellotti, Giampaolo Merlini, Brian Spencer, Tatiana Prokaeva, Catherine E. Costello, Roger Théberge, David C. Seldin, Francesca Lavatelli

Publikováno v: Molecular & Cellular Proteomics. 7:1570-1583

In systemic amyloidoses, widespread deposition of protein as amyloid causes severe organ dysfunction. It is necessary to discriminate among the different forms of amyloid to design an appropriate therapeutic strategy. We developed a proteomics method

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f041c3df67019e313bdb1ee33655f87c
https://doi.org/10.1074/mcp.m700545-mcp200

Characterization of Transthyretin Variants in Familial Transthyretin Amyloidosis by Mass Spectrometric Peptide Mapping and DNA Sequence Analysis

Autor: Amareth Lim, Roger Théberge, Martha Skinner, Peter B. O’Connor, Mark E. McComb, Lawreen H. Connors, Catherine E. Costello, Tatiana Prokaeva

Publikováno v: Analytical Chemistry. 74:741-751

Transthyretin (TTR) is a 127-amino acid residue transport protein. In plasma, TTR exists as a tetramer and binds the hormone thyroxine and the retinol-binding protein−vitamin A complex. Amino acid ...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f4e32521ebf71397f5e8c63cf625c421
https://doi.org/10.1021/ac010780+