Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Laura E, Swan"'
Publikováno v:
FASEB BioAdvances, Vol 5, Iss 4, Pp 149-155 (2023)
Abstract Acidification of the cellular lysosome is an important factor in infection of mammalian cells by SARS‐CoV‐2. Therefore, raising the pH of the lysosome would theoretically be beneficial in prevention or treatment of SARS‐CoV‐2 infecti
Externí odkaz:
https://doaj.org/article/5530ce4269a24c89af40458cd0c4d7fb
Publikováno v:
Proteins: Structure, Function, and Bioinformatics. 91:439-455
The VPS13 protein family constitutes a novel class of bridge-like lipid transferases. Autosomal recessive inheritance of mutations in VPS13 genes is associated with the development of neurodegenerative diseases in humans. Bioinformatic approaches pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a5d0838eb6c07320cc8c5ff7aa8a2e3
https://doi.org/10.1002/prot.26446
https://doi.org/10.1002/prot.26446
Autor:
Dhyanam Shukla, Brian M. Gural, Edmund S. Cauley, Namarata Battula, Shorbon Mowla, Brittany F. Karas, Llion E. Roberts, Luca Cavallo, Luka Turkalj, Sally A. Moody, Laura E. Swan, M. Chiara Manzini
Publikováno v:
Development Genes and Evolution.
One hurdle in the development of zebrafish models of human disease is the presence of multiple zebrafish orthologs resulting from whole genome duplication in teleosts. Mutations in inositol polyphosphate 5-phosphatase K (INPP5K) lead to a syndrome ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::88e650034247110fa8fb0c8a6fe6399b
https://doi.org/10.1007/s00427-023-00703-z
https://doi.org/10.1007/s00427-023-00703-z
Autor:
Dhyanam Shukla, Brian M. Gural, Edmund S. Cauley, Llion E. Roberts, Brittany F. Karas, Luca Cavallo, Luka Turkalj, Sally A. Moody, Laura E. Swan, M. Chiara Manzini
One hurdle in the development of zebrafish models of human disease is the presence of multiple zebrafish orthologs resulting from whole genome duplication in teleosts. Mutations in Inositol polyphosphate 5-phosphatase K (INPP5K) lead to a syndrome ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::39ae5dc5c18ad88dcbe73fce5ba656cb
https://doi.org/10.1101/2022.08.31.506059
https://doi.org/10.1101/2022.08.31.506059
The VPS13 protein family constitutes a novel class of bridge-like lipid transferases. Autosomal recessive inheritance of mutations in VPS13 genes is associated with the development of neurodegenerative diseases in humans. Bioinformatic approaches pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ba1f4658c6e87456bbff887e5690d394
https://doi.org/10.1101/2022.07.27.501698
https://doi.org/10.1101/2022.07.27.501698
Autor:
Amy H. Ponsford, Laura E. Swan, Emanuele Cocucci, Florian Fröhlich, Andrea Raimondi, Thomas A. Ryan, Massimiliano Stagi, Susanne A. Wycislo
Publikováno v:
Autophagy
article-version (VoR) Version of Record
article-version (VoR) Version of Record
Disorders of lysosomal physiology have increasingly been found to underlie the pathology of a rapidly growing cast of neurodevelopmental disorders and sporadic diseases of aging. One cardinal aspect of lysosomal (dys)function is lysosomal acidificati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6627e7bf9e75a0dff1e4f6a4a5d3316e
http://europepmc.org/articles/PMC8205096
http://europepmc.org/articles/PMC8205096
Autor:
Giorgio Tasca, Laxmikanth Kollipara, Francesco Ricci, Adele D'Amico, Rita Barresi, Laura E. Swan, Isabelle Nelson, Anne Boland, Hanns Lochmüller, Annalaura Torella, Ronald D. Cohn, Fabiana Fattori, Dan Cox, Ingo Feldmann, Denisa Hathazi, Heinz Jungbluth, Rita Horvath, Jennifer Baumann, Marie-Line Jacquemont, Jean-François Deleuze, Gisèle Bonne, Robert-Yves Carlier, Emily O'Connor, René P. Zahedi, Andoni Urtizberea, Emily Robinson, Richard Charlton, Andreas Roos
Publikováno v:
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2021, 144 (8), pp.2427-2442. ⟨10.1093/brain/awab133⟩
Brain-A Journal of Neurology, 2021, 144 (8), pp.2427-2442. ⟨10.1093/brain/awab133⟩
BRAIN
Brain
Brain-A Journal of Neurology, Oxford University Press (OUP), 2021, 144 (8), pp.2427-2442. ⟨10.1093/brain/awab133⟩
Brain-A Journal of Neurology, 2021, 144 (8), pp.2427-2442. ⟨10.1093/brain/awab133⟩
BRAIN
Brain
Marinesco-Sjögren syndrome is a rare human disorder caused by biallelic mutations in SIL1 characterized by cataracts in infancy, myopathy and ataxia, symptoms which are also associated with a novel disorder caused by mutations in INPP5K. While these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce027d8d9bbbf23fbe33072ea746d16c
https://www.ncbi.nlm.nih.gov/pubmed/33792664
https://www.ncbi.nlm.nih.gov/pubmed/33792664
Autor:
Laura E. Swan, Kelly L. Budge, Gavin I. Welsh, Ioana-Roxana Martinas, Jack Tuffin, Rachael D. Wright, Thomas P. Wilm, Stephen J McWilliam, Louise Oni, James Littlewood
Publikováno v:
Clinical Kidney Journal
McWilliam, S, Wright, R, Welsh, G I, Tuffin, J, Budge, K, Swan, L, Will, T, Martinas, I-R, Littlewood, J & Oni, L 2020, ' The complex interplay between kidney injury and inflammation ', Clinical Kidney Journal . https://doi.org/10.1093/ckj/sfaa164
McWilliam, S, Wright, R, Welsh, G I, Tuffin, J, Budge, K, Swan, L, Will, T, Martinas, I-R, Littlewood, J & Oni, L 2020, ' The complex interplay between kidney injury and inflammation ', Clinical Kidney Journal . https://doi.org/10.1093/ckj/sfaa164
Acute kidney injury (AKI) has gained significant attention following patient safety alerts about the increased risk of harm to patients, including increased mortality and hospitalization. Common causes of AKI include hypovolaemia, nephrotoxic medicat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff55ca2cf3a98fa56ce8637ad6fd9ed7
https://pubmed.ncbi.nlm.nih.gov/33777361
https://pubmed.ncbi.nlm.nih.gov/33777361
Autor:
Alexandre, Luscher, Florian, Fröhlich, Caroline, Barisch, Clare, Littlewood, Joe, Metcalfe, Florence, Leuba, Anita, Palma, Michelle, Pirruccello, Gianni, Cesareni, Massimiliano, Stagi, Tobias C, Walther, Thierry, Soldati, Pietro, De Camilli, Laura E, Swan
Publikováno v:
Molecular Biology of the Cell
Mutations of the inositol 5-phosphatase OCRL cause Lowe syndrome (LS), characterized by congenital cataract, low IQ, and defective kidney proximal tubule resorption. A key subset of LS mutants abolishes OCRL’s interactions with endocytic adaptors c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c4861335082652afbe83bd12b58b3607
https://pubmed.ncbi.nlm.nih.gov/31216233
https://pubmed.ncbi.nlm.nih.gov/31216233