Ann Frazier

Mitochondrial biology and dysfunction in secondary mitochondrial disease

Megan J Baker, Jordan J Crameri, David R Thorburn, Ann E Frazier, Diana Stojanovski

Journal article  |  2022  |  OPEN BIOLOGY

Mitochondrial diseases are a broad, genetically heterogeneous class of metabolic disorders characterized by deficits in oxidative ..

Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 module

Thomas D Jackson, Jordan J Crameri, Linden Muellner-Wong, Ann E Frazier, Catherine S Palmer, Luke E Formosa, Daniella H Hock, Kenji M Fujihara, Tegan Stait, Alice J Sharpe, David R Thorburn, Michael T Ryan, David A Stroud, Diana Stojanovski

Journal article  |  2022  |  PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

SignificanceMitochondria are double-membraned eukaryotic organelles that house the proteins required for generation of ATP, the en..

Mainstreaming proteomics into rare disease diagnostics

Daniella H Hock, Alison G Compton, Sumudu SC Amarasekera, Ann E Frazier, Guy Helman, Nicole J Lake, Liana N Semcesen, Zornitza Stark, Monkol Lek, Cas Simons, John Christodoulou, David R Thorburn, David A Stroud

Journal article  |  2022  |  Pathology

High-intensity training induces non-stoichiometric changes in the mitochondrial proteome of human skeletal muscle without reorganisation of respiratory chain content

Cesare Granata, Nikeisha J Caruana, Javier Botella, Nicholas A Jamnick, Kevin Huynh, Jujiao Kuang, Hans A Janssen, Boris Reljic, Natalie A Mellett, Adrienne Laskowski, Tegan L Stait, Ann E Frazier, Melinda T Coughlan, Peter J Meikle, David R Thorburn, David A Stroud, David J Bishop

Journal article  |  2021  |  NATURE COMMUNICATIONS

Mitochondrial defects are implicated in multiple diseases and aging. Exercise training is an accessible, inexpensive therapeutic i..

Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?

Cameron L McKnight, Yau Chung Low, David A Elliott, David R Thorburn, Ann E Frazier

Journal article  |  2021  |  INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Mitochondrial diseases disrupt cellular energy production and are among the most complex group of inherited genetic disorders. Aff..

The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism

Thomas D Jackson, Daniella H Hock, Kenji M Fujihara, Catherine S Palmer, Ann E Frazier, Yau C Low, Yilin Kang, Ching-Seng Ang, Nicholas J Clemons, David R Thorburn, David A Stroud, Diana Stojanovski

Journal article  |  2021  |  MOLECULAR BIOLOGY OF THE CELL

Acylglycerol kinase (AGK) is a mitochondrial lipid kinase that contributes to protein biogenesis as a subunit of the TIM22 complex..

Rothmund-Thomson Syndrome-Like RECQL4 Truncating Mutations Cause a Haploinsufficient Low-Bone-Mass Phenotype in Mice

Wilson Castillo-Tandazo, Ann E Frazier, Natalie A Sims, Monique F Smeets, Carl R Walkley

Journal article  |  2021  |  MOLECULAR AND CELLULAR BIOLOGY

Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder characterized by defects in the skeletal system, such as bone h..

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

Ann E Frazier, Alison G Compton, Yoshihito Kishita, Daniella H Hock, AnneMarie E Welch, Sumudu SC Amarasekera, Rocio Rius, Luke E Formosa, Atsuko Imai-Okazaki, David Francis, Min Wang, Nicole J Lake, Simone Tregoning, Jafar S Jabbari, Alexis Lucattini, Kazuhiro R Nitta, Akira Ohtake, Kei Murayama, David J Amor, George McGillivray, et al.

Journal article  |  2021  |  MED

BACKGROUND: In about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosi..

Recurrent de novo ATAD3 duplications cause fatal perinatal mitochondrial cardiomyopathy, persistent hyperlactacidemia, encephalopathy and heart-specific mitochondrial oxidative phosphorylation complex I deficiency.

AE Frazier, AG Compton, Y Kishita, DH Hock, AE Welch, SSC Amarasekera, R Rius, LE Formosa, A Imai-Okazaki, D Francis, M Wang, NJ Lake, S Tregoning, JS Jabbari, A Lucattini, R Nitta, A Ohtake, K Murayama, DJ Amor, G McGillivray, et al.

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Assessment of mitochondrial respiratory chain enzymes in cells and tissues

Ann E Frazier, Amy E Vincent, Doug M Turnbull, David R Thorburn, Robert W Taylor

Book Chapter  |  2020  |  Methods in Cell Biology

Measurement of the individual enzymes involved in mitochondrial oxidative phosphorylation (OXPHOS) forms a key part of diagnostic ..