Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria

Autor: Stanka Matic, Min Jiang, Thomas J. Nicholls, Jay P. Uhler, Caren Dirksen-Schwanenland, Paola Loguercio Polosa, Marie-Lune Simard, Xinping Li, Ilian Atanassov, Oliver Rackham, Aleksandra Filipovska, James B. Stewart, Maria Falkenberg, Nils-Göran Larsson, Dusanka Milenkovic

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-13 (2018)

It has been debated whether premature ageing in mitochondrial DNA mutator mice is driven by point mutations or deletions of mtDNA. Matic et al generate Mgme1 knockout mice and show here that these mice have tissue-specific replication stalling and ac

Externí odkaz: https://doaj.org/article/e4875b41d2804c3a99656ff7ae1c7aca

In Vitro Analysis of mtDNA Replication

Autor: Jay P, Uhler, Maria, Falkenberg

Publikováno v: Methods in molecular biology (Clifton, N.J.). 2192

Human mitochondrial DNA is a small circular double-stranded molecule that is essential for cellular energy production. A specialized protein machinery replicates the mitochondrial genome, with DNA polymerase γ carrying out synthesis of both strands.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a33cc3626e0cc6ddfa79bdf0a7faebe5
https://pubmed.ncbi.nlm.nih.gov/33230761

Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing

Autor: Sammy Kimoloi, Jay P. Uhler, Xie Xie, Anders Oldfors, Maria Falkenberg, Stanka Matic, Erik Larsson, Claes M. Gustafsson, James B. Stewart, Carola Hedberg-Oldfors, Swaraj Basu, Rudolf J. Wiesner, Nils-Göran Larsson, Olivier R. Baris, Dusanka Milenkovic

Publikováno v: PLoS Genetics
PLoS Genet
PLoS Genetics, Public Library of Science, 2020, 16 (12), pp.e1009242. ⟨10.1371/journal.pgen.1009242⟩
PLoS Genetics, Vol 16, Iss 12, p e1009242 (2020)
PLOS Genetics

Deletions and duplications in mitochondrial DNA (mtDNA) cause mitochondrial disease and accumulate in conditions such as cancer and age-related disorders, but validated high-throughput methodology that can readily detect and discriminate between thes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6b48dea2a289da834449d60dce16736
https://pubmed.ncbi.nlm.nih.gov/33315859

UBTD1 is a mechano‐regulator controlling cancer aggressiveness

Autor: Damien Ambrosetti, Amel Mettouchi, Frédéric Bost, Christophe Lamaze, Maeva Gesson, Stéphanie Torrino, Jay P. Uhler, Emmanuel Lemichez, Lisa Kaminski, Stephan Clavel, Kathiane Laurent, Jean-François Michiels, Sabrina Pisano, François-René Roustan, Thomas Bertero, Maeva Dufies, Cedric Gaggioli

Publikováno v: EMBO Reports
EMBO Reports, 2019, 20 (4), pp.e46570. ⟨10.15252/embr.201846570⟩
EMBO Reports, EMBO Press, 2019, 20 (4), pp.e46570. ⟨10.15252/embr.201846570⟩

International audience; Ubiquitin domain-containing protein 1 (UBTD1) is highly evolutionary conserved and has been described to interact with E2 enzymes of the ubiquitin-proteasome system. However, its biological role and the functional significance

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7f62fcac6e6e9da5d4ee5cd5444de63
https://hal.science/hal-02346735

Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO

Autor: Carola Hedberg-Oldfors, Bertil Macao, Swaraj Basu, Christopher Lindberg, Bradley Peter, Direnis Erdinc, Jay P. Uhler, Erik Larsson, Maria Falkenberg, Anders Oldfors

Publikováno v: Neurology Genetics

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=r3c4b2081b22::04385d5da26082a75cb0b476f3f20ff1