Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Daniella H. Hock"'
Autor:
Cecilia Patitucci, Juan Diego Hernández-Camacho, Elodie Vimont, Sonny Yde, Thomas Cokelaer, Thibault Chaze, Quentin Giai Gianetto, Mariette Matondo, Anastasia Gazi, Ivan Nemazanyy, David A. Stroud, Daniella H. Hock, Erminia Donnarumma, Timothy Wai
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Abstract Hepatic steatosis is the result of imbalanced nutrient delivery and metabolism in the liver and is the first hallmark of Metabolic dysfunction-associated steatotic liver disease (MASLD). MASLD is the most common chronic liver disease and inv
Externí odkaz:
https://doaj.org/article/b09b45d1602f49a8a762f6a77dc40a33
Autor:
Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Van Haute et al describe autosomal recessive TEFM variants that impair mitochondrial transcription elongation and reduce the levels of promoter distal mitochondrial RNA transcripts, leading to heterogeneous mitochondrial diseases with a treatable neu
Externí odkaz:
https://doaj.org/article/cd5cc9ecdd2c4821a6750da1e26f46ce
Autor:
Raman Kumar, Mark A. Corbett, Nicholas J. C. Smith, Daniella H. Hock, Zoya Kikhtyak, Liana N. Semcesen, Atsushi Morimoto, Sangmoon Lee, David A. Stroud, Joseph G. Gleeson, Eric A. Haan, Jozef Gecz
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
Abstract TIMMDC1 encodes the Translocase of Inner Mitochondrial Membrane Domain-Containing protein 1 (TIMMDC1) subunit of complex I of the electron transport chain responsible for ATP production. We studied a consanguineous family with two affected c
Externí odkaz:
https://doaj.org/article/3573a379dbf14bad94f8b937feac8378
Autor:
David R. L. Robinson, Daniella H. Hock, Linden Muellner-Wong, Roopasingam Kugapreethan, Boris Reljic, Elliot E. Surgenor, Carlos H. M. Rodrigues, Nikeisha J. Caruana, David A. Stroud
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Mitochondria are complex organelles containing 13 proteins encoded by mitochondrial DNA and over 1,000 proteins encoded on nuclear DNA. Many mitochondrial proteins are associated with the inner or outer mitochondrial membranes, either peripherally or
Externí odkaz:
https://doaj.org/article/74618a07470a4df0adafe985172be429
Autor:
Nicole J. Van Bergen, Daniella H. Hock, Lucy Spencer, Sean Massey, Tegan Stait, Zornitza Stark, Sebastian Lunke, Ain Roesley, Heidi Peters, Joy Yaplito Lee, Anna Le Fevre, Oliver Heath, Cristina Mignone, Joseph Yuan-Mou Yang, Monique M. Ryan, Colleen D’Arcy, Margot Nash, Sile Smith, Nikeisha J. Caruana, David R. Thorburn, David A. Stroud, Susan M. White, John Christodoulou, Natasha J. Brown
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 2, p 986 (2022)
Pyridine Nucleotide-Disulfide Oxidoreductase Domain 2 (PYROXD2; previously called YueF) is a mitochondrial inner membrane/matrix-residing protein and is reported to regulate mitochondrial function. The clinical importance of PYROXD2 has been unclear,
Externí odkaz:
https://doaj.org/article/2dffd05d7a9647acb67ffc154289bf7f
Autor:
Catarina M. de Figueiredo, Daniella H. Hock, Débora Trichez, Maria de Lourdes B. Magalhães, Mario L. Lopes, Henrique V. de Amorim, Boris U. Stambuk
Publikováno v:
Fermentation, Vol 7, Iss 3, p 127 (2021)
Many contaminant yeast strains that survive inside fuel ethanol industrial vats show detrimental cell surface phenotypes. These harmful effects may include filamentation, invasive growth, flocculation, biofilm formation, and excessive foam production
Externí odkaz:
https://doaj.org/article/0188ccd6f1f2471784c3a279d65c372f
Autor:
Shabnam Bakhshalizadeh, Daniella H. Hock, Nicole A. Siddall, Brianna L. Kline, Rajini Sreenivasan, Katrina M. Bell, Franca Casagranda, Sadishkumar Kamalanathan, Jayaprakash Sahoo, Niya Narayanan, Dukhabandhu Naik, Varun Suryadevara, Alison G. Compton, Sumudu S. C. Amarasekera, Ridam Kapoor, Sylvie Jaillard, Andrea Simpson, Gorjana Robevska, Jocelyn van den Bergen, Svenja Pachernegg, Katie L. Ayers, David R. Thorburn, David A. Stroud, Gary R. Hime, Andrew H. Sinclair, Elena J. Tucker
Publikováno v:
Human Genetics.
Premature ovarian insufficiency (POI) is a common cause of infertility in women, characterised by amenorrhea and elevated FSH under the age of 40 years. In some cases, POI is syndromic in association with other features such as sensorineural hearing
Autor:
Sumudu S C Amarasekera, Daniella H Hock, Nicole J Lake, Sarah E Calvo, Sabine W Grønborg, Emma I Krzesinski, David J Amor, Michael C Fahey, Cas Simons, Flemming Wibrand, Vamsi K Mootha, Monkol Lek, Sebastian Lunke, Zornitza Stark, Elsebet Østergaard, John Christodoulou, David R Thorburn, David A Stroud, Alison G Compton
Publikováno v:
Human Molecular Genetics.
MRPL39 encodes one of 52 proteins comprising the large subunit of the mitochondrial ribosome (mitoribosome). In conjunction with 30 proteins in the small subunit, the mitoribosome synthesizes the 13 subunits of the mitochondrial oxidative phosphoryla
Autor:
Elena J Tucker, Megan J Baker, Daniella H Hock, Julia T Warren, Sylvie Jaillard, Katrina M Bell, Rajini Sreenivasan, Shabnam Bakhshalizadeh, Chloe A Hanna, Nikeisha J Caruana, Saskia B Wortmann, Shamima Rahman, Robert D S Pitceathly, Jean Donadieu, Aurelia Alimi, Vincent Launay, Paul Coppo, Sophie Christin-Maitre, Gorjana Robevska, Jocelyn van den Bergen, Brianna L Kline, Katie L Ayers, Phoebe N Stewart, David A Stroud, Diana Stojanovski, Andrew H Sinclair
Publikováno v:
Journal of Clinical Endocrinology and Metabolism, 107, 12, pp. 3328-3340
Journal of Clinical Endocrinology and Metabolism, 107, 3328-3340
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2022, ⟨10.1210/clinem/dgac528⟩
Journal of Clinical Endocrinology and Metabolism, 107, 3328-3340
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2022, ⟨10.1210/clinem/dgac528⟩
Context Premature ovarian insufficiency (POI) is a common form of female infertility that usually presents as an isolated condition but can be part of various genetic syndromes. Early diagnosis and treatment of POI can minimize comorbidity and improv
Autor:
Daryl Shern Lim, Rhea Nadkarni, Sebastian Schafer, Shan Zhang, Owen J. L. Rackham, Ashley L. St. John, Radiance Lim, Vinh Thang Huynh, Vinay Tergaonkar, Sonia Chothani, David A. Stroud, Daniella H Hock, Baptiste Kerouanton, Lena Ho, Ying Chen, Chinmay K. Mantri, Wei Leong Chew, Franklin L. Zhong, Cheryl Q E Lee
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-22 (2021)
Nature Communications
Nature Communications
Mito-SEPs are small open reading frame-encoded peptides that localize to the mitochondria to regulate metabolism. Motivated by an intriguing negative association between mito-SEPs and inflammation, here we screen for mito-SEPs that modify inflammator