Author

S. J. Marciniak

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Cell Biology· 6 Cancer Biology· 1 Pathology· 1 Pharmacology & Toxicology· 1 Physiology· 1

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Approach:experimental assay· 8 Organism:human· 6 Research Focus:cell type annotation· 4 Research Focus:differential expression· 3 Organism:mouse· 3 Research Focus:cancer & tumor microenvironment· 2 Research Focus:host-pathogen & immune response· 2 Assay:proteomics· 2

Frequent Co-Authors

J. E. Chambers· 3 shared A. Ordonez· 2 shared A. A. Voors· 1 shared A. Al-Hadithi· 1 shared A. Bielowka· 1 shared A. Brewster· 1 shared A. C. Pearce· 1 shared A. Denis· 1 shared

Activity by Year

2018-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 12 mutual co-author links

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3 shared papersCell Biology

J. E. Chambers

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Author profile →

10 papers

Recent·Most cited

Functional validation of EIF2AK4 (GCN2) missense variants associated with pulmonary arterial hypertension

G. Emanuelli, J. Zhu, N. Morrell, S. J. Marciniak

The paper functionally validates EIF2AK4 variants in PAH patients, finding some variants are non-pathogenic and others are hypomorphic and responsive to a kinase inhibitor.

bioRxiv · Jan 27, 2024 · PreprintCell Biology

A novel human fetal lung-derived alveolar organoid model reveals mechanisms of surfactant protein C maturation relevant to interstitial lung disease

K. Lim, E. N. Rutherford, D. Sun, D. J. Van den Boomen, J. R. Edgar, J. Bang, L. E. Matesic, J.-H. Lee, P. J. Lehner, S. J. Marciniak, E. L. Rawlins, J. A. Dickens

bioRxiv · Aug 30, 2023Cell Biology

ANXA11 biomolecular condensates facilitate protein-lipid phase coupling on lysosomal membranes

J. Nixon-Abell, F. S. Ruggeri, S. Qamar, T. W. Herling, M. A. Czekalska, Y. Shen, G. Wang, C. King, M. S. Fernandopulle, T. Sneideris, J. L. Watson, V. V. Pillai, W. Meadows, J. Henderson, J. E. Chambers, , P. St George Hyslop

This study shows ANXA11 biomolecular condensates couple protein and lipid phase states on lysosomal membranes through interactions with ALG2 and CALC.

bioRxiv · Mar 22, 2023Cell Biology

Single-cell transcriptomic analysis of human pleura reveals stromal heterogeneity and informs in vitro models of mesothelioma

J. Obacz, R. Nibhani, T. S. Adams, J. C. Schupp, J. A. Valer, N. Veale, G. Aresu, A. S. Coonar, A. Peryt, G. Biffi, N. Kaminski, H. E. Francies, D. Rassl, M. Garnett, R. C. Rintoul, S. J. Marciniak

This study presents a single-cell transcriptomic atlas of human pleura, identifying stromal heterogeneity and informing in vitro models of mesothelioma.

bioRxiv · Dec 3, 2022 · PreprintCancer Biology

GDF15 antagonism limits severe heart failure and prevents cardiac cachexia in mice

M. Takaoka, J. A. Tadross, A. Al-Hadithi, R. Villena-Gutierrez, J. Tromp, S. Absar, M. Au, J. Harrison, A. P. Coll, S. J. Marciniak, D. Rimmington, E. Oliver, B. Ibanez, A. A. Voors, S. O'Rahilly, , J. C. Goodall

This study shows that blocking GDF15 reduces severe heart failure and cardiac cachexia in mice by preventing weight loss and slowing disease progression.

bioRxiv · Sep 6, 2022Pathology

Heterozygous transcriptional signatures unmask variable premature termination codon (PTC) burden alongside pathway-specific adaptations in blood outgrowth endothelial cells from patients with nonsense DNA variants causing hereditary hemorrhagic telangiectasia

M. E. Bernabeu-Herrero, D. Patel, A. Bielowka, P. Chaves Guerrero, S. J. Marciniak, M. Noseda, M. A. Aldred, C. L. Shovlin

The paper examines the effects of nonsense DNA variants in HHT patients by analyzing transcriptional signatures and PTC burden in BOECs, finding pathway-independent changes in protein modification and stress-related patterns.

bioRxiv · Dec 5, 2021 · PreprintCell Biology

Cargo receptor-assisted endoplasmic reticulum export of pathogenic α1-antitrypsin polymers

A. Ordonez, H. P. Harding, S. J. Marciniak, D. Ron

This study identifies genes and cargo receptors involved in the ER export of pathogenic α1-antitrypsin polymers using a CRISPR screen.

bioRxiv · Sep 17, 2020Cell Biology

Development of a small molecule that corrects misfolding and increases secretion of Z α1-antitrypsin

D. Lomas, J. A. Irving, C. Arico-Muendel, S. Belyanskaya, A. Brewster, M. J. B. Brown, C.-w. Chung, H. Dave, A. Denis, N. Dodic, A. Dossang, P. Eddershaw, D. Klimaszewska, I. Haq, D. Holmes, , A. C. Pearce

This study identifies a small molecule that stabilizes Z α1-antitrypsin, reduces polymerization, and increases its secretion in cells and mice.

bioRxiv · Jul 26, 2020Pharmacology & Toxicology

Inactivation of Ppp1r15a minimises weight gain and insulin resistance during caloric excess in mice

V. Patel, G. Bidault, J. E. Chambers, S. Carobbio, A. J. T. Everden, C. Garces, L. E. Dalton, F. M. Gribble, A. Vidal-Puig, S. J. Marciniak

This study shows that mice lacking PPP1R15A gain less weight and have improved insulin sensitivity on a high-fat diet but not on standard diet.

bioRxiv · May 4, 2018Physiology

The integrated stress response regulates BMP signaling through effects on translation

E. Malzer, C. S. Dominicus, J. E. Chambers, S. Mookerjee, S. J. Marciniak

This study shows that the integrated stress response (ISR) regulates BMP signaling in Drosophila through effects on translation and the transcription factor crc.

bioRxiv · Feb 16, 2018Cell Biology