Bypassing mitochondrial defects rescues Huntington's phenotypes in Drosophila

Autor: Susanna Campesan, Ivana del Popolo, Kyriaki Marcou, Anna Straatman-Iwanowska, Mariaelena Repici, Kalina V. Boytcheva, Victoria E. Cotton, Natalie Allcock, Ezio Rosato, Charalambos P. Kyriacou, Flaviano Giorgini

Publikováno v: Neurobiology of Disease, Vol 185, Iss , Pp 106236- (2023)

Huntington's disease (HD) is a fatal neurodegenerative disease with limited treatment options. Human and animal studies have suggested that metabolic and mitochondrial dysfunctions contribute to HD pathogenesis. Here, we use high-resolution respirome

Externí odkaz: https://doaj.org/article/f244b257c55740d4955b65669107d32b

Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis

Autor: Blerida Banushi, Federico Forneris, Anna Straatman-Iwanowska, Adam Strange, Anne-Marie Lyne, Clare Rogerson, Jemima J. Burden, Wendy E. Heywood, Joanna Hanley, Ivan Doykov, Kornelis R. Straatman, Holly Smith, Danai Bem, Janos Kriston-Vizi, Gema Ariceta, Maija Risteli, Chunguang Wang, Rosalyn E. Ardill, Marcin Zaniew, Julita Latka-Grot, Simon N. Waddington, S. J. Howe, Francesco Ferraro, Asllan Gjinovci, Scott Lawrence, Mark Marsh, Mark Girolami, Laurent Bozec, Kevin Mills, Paul Gissen

Publikováno v: Nature Communications, Vol 7, Iss 1, Pp 1-14 (2016)

Lysine hydroxylation of procollagen precursors by LH3 is required for collagen fibril crosslinking and stabilization. Here the authors show that the trafficking protein VIPAR is required for correct sorting of LH3 into post-Golgi collagen carriers an

Externí odkaz: https://doaj.org/article/e77a5c9ad1f34f37a39287201a081ba7

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.

Autor: Neil V Morgan, Mark R Morris, Hakan Cangul, Diane Gleeson, Anna Straatman-Iwanowska, Nicholas Davies, Stephen Keenan, Shanaz Pasha, Fatimah Rahman, Dean Gentle, Maaike P G Vreeswijk, Peter Devilee, Margaret A Knowles, Serdar Ceylaner, Richard C Trembath, Carlos Dalence, Erol Kismet, Vedat Köseoğlu, Hans-Christoph Rossbach, Paul Gissen, David Tannahill, Eamonn R Maher

Publikováno v: PLoS Genetics, Vol 6, Iss 2, p e1000833 (2010)

The histiocytoses are a heterogeneous group of disorders characterised by an excessive number of histiocytes. In most cases the pathophysiology is unclear and treatment is nonspecific. Faisalabad histiocytosis (FHC) (MIM 602782) has been classed as a

Externí odkaz: https://doaj.org/article/d36e35d927b4446f86206acd3e9be0ec

A38 Mitochondrial interventions rescue disease phenotypes in a drosophila model of huntington’s disease

Autor: Susanna Campesan, Charalambos P. Kyriacou, Anna Straatman-Iwanowska, Victoria E. Cotton, Flaviano Giorgini, Kyriaki Marcou

Publikováno v: Pathogenic mechanisms.

Background Metabolic dysfunction is a hallmark of HD pathology. Decreased glucose metabolism and increased lactate concentrations in HD brains suggest mitochondrial involvement in the disease. Moreover, alterations in mitochondrial fission/fusion bal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b10c821f68ed75e38b862168f8c2c3a6
https://doi.org/10.1136/jnnp-2018-ehdn.36

Two Faces of CwlM, an Essential PknB Substrate, in Mycobacterium tuberculosis

Autor: Paul Ajuh, Philippe Barthe, Francesca Forti, Andrew R. Bottrill, Daniela Ghisotti, Anna Straatman-Iwanowska, Martin Cohen-Gonsaud, Russell Wallis, Baleegh Kadhim, Galina V. Mukamolova, Jad Sassine, Obolbek Turapov, Patrick J. Moynihan, Waldemar Vollmer

Publikováno v: CELL REPORTS
Cell Reports
Cell Reports, Elsevier Inc, 2018, 25 (1), pp.57-67.e5. ⟨10.1016/j.celrep.2018.09.004⟩
Cell Reports, Vol 25, Iss 1, Pp 57-67.e5 (2018)

Summary Tuberculosis claims >1 million lives annually, and its causative agent Mycobacterium tuberculosis is a highly successful pathogen. Protein kinase B (PknB) is reported to be critical for mycobacterial growth. Here, we demonstrate that PknB-dep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1e5029950f53758133e85040105536a
https://doi.org/10.1016/j.celrep.2018.09.004