Loss of the Mia40a oxidoreductase leads to hepato-pancreatic insufficiency in zebrafish

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Standard

Loss of the Mia40a oxidoreductase leads to hepato-pancreatic insufficiency in zebrafish. / Sokol, Anna M.; Uszczynska-Ratajczak, Barbara; Collins, Michelle M.; Bazala, Michal; Topf, Ulrike; Lundegaard, Pia R.; Sugunan, Sreedevi; Guenther, Stefan; Kuenne, Carsten; Graumann, Johannes; Chan, Sherine S. L.; Stainier, Didier Y. R.; Chacinska, Agnieszka.

I: PLOS Genetics, Bind 14, Nr. 11, 11.2018, s. e1007743 .

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Harvard

Sokol, AM, Uszczynska-Ratajczak, B, Collins, MM, Bazala, M, Topf, U, Lundegaard, PR, Sugunan, S, Guenther, S, Kuenne, C, Graumann, J, Chan, SSL, Stainier, DYR & Chacinska, A 2018, 'Loss of the Mia40a oxidoreductase leads to hepato-pancreatic insufficiency in zebrafish', PLOS Genetics, bind 14, nr. 11, s. e1007743 . https://doi.org/10.1371/journal.pgen.1007743

APA

Sokol, A. M., Uszczynska-Ratajczak, B., Collins, M. M., Bazala, M., Topf, U., Lundegaard, P. R., ... Chacinska, A. (2018). Loss of the Mia40a oxidoreductase leads to hepato-pancreatic insufficiency in zebrafish. PLOS Genetics, 14(11), e1007743 . https://doi.org/10.1371/journal.pgen.1007743

Vancouver

Sokol AM, Uszczynska-Ratajczak B, Collins MM, Bazala M, Topf U, Lundegaard PR o.a. Loss of the Mia40a oxidoreductase leads to hepato-pancreatic insufficiency in zebrafish. PLOS Genetics. 2018 nov;14(11):e1007743 . https://doi.org/10.1371/journal.pgen.1007743

Author

Sokol, Anna M. ; Uszczynska-Ratajczak, Barbara ; Collins, Michelle M. ; Bazala, Michal ; Topf, Ulrike ; Lundegaard, Pia R. ; Sugunan, Sreedevi ; Guenther, Stefan ; Kuenne, Carsten ; Graumann, Johannes ; Chan, Sherine S. L. ; Stainier, Didier Y. R. ; Chacinska, Agnieszka. / Loss of the Mia40a oxidoreductase leads to hepato-pancreatic insufficiency in zebrafish. I: PLOS Genetics. 2018 ; Bind 14, Nr. 11. s. e1007743 .

Bibtex

@article{264d4070a2254b0c81459e86acee98b4,
title = "Loss of the Mia40a oxidoreductase leads to hepato-pancreatic insufficiency in zebrafish",
abstract = "Development and function of tissues and organs are powered by the activity of mitochondria. In humans, inherited genetic mutations that lead to progressive mitochondrial pathology often manifest during infancy and can lead to death, reflecting the indispensable nature of mitochondrial biogenesis and function. Here, we describe a zebrafish mutant for the gene mia40a (chchd4a), the life-essential homologue of the evolutionarily conserved Mia40 oxidoreductase which drives the biogenesis of cysteine-rich mitochondrial proteins. We report that mia40a mutant animals undergo progressive cellular respiration defects and develop enlarged mitochondria in skeletal muscles before their ultimate death at the larval stage. We generated a deep transcriptomic and proteomic resource that allowed us to identify abnormalities in the development and physiology of endodermal organs, in particular the liver and pancreas. We identify the acinar cells of the exocrine pancreas to be severely affected by mutations in the MIA pathway. Our data contribute to a better understanding of the molecular, cellular and organismal effects of mitochondrial deficiency, important for the accurate diagnosis and future treatment strategies of mitochondrial diseases.",
author = "Sokol, {Anna M.} and Barbara Uszczynska-Ratajczak and Collins, {Michelle M.} and Michal Bazala and Ulrike Topf and Lundegaard, {Pia R.} and Sreedevi Sugunan and Stefan Guenther and Carsten Kuenne and Johannes Graumann and Chan, {Sherine S. L.} and Stainier, {Didier Y. R.} and Agnieszka Chacinska",
year = "2018",
month = "11",
doi = "10.1371/journal.pgen.1007743",
language = "English",
volume = "14",
pages = "e1007743",
journal = "P L o S Genetics",
issn = "1553-7390",
publisher = "Public Library of Science",
number = "11",

}

RIS

TY - JOUR

T1 - Loss of the Mia40a oxidoreductase leads to hepato-pancreatic insufficiency in zebrafish

AU - Sokol, Anna M.

AU - Uszczynska-Ratajczak, Barbara

AU - Collins, Michelle M.

AU - Bazala, Michal

AU - Topf, Ulrike

AU - Lundegaard, Pia R.

AU - Sugunan, Sreedevi

AU - Guenther, Stefan

AU - Kuenne, Carsten

AU - Graumann, Johannes

AU - Chan, Sherine S. L.

AU - Stainier, Didier Y. R.

AU - Chacinska, Agnieszka

PY - 2018/11

Y1 - 2018/11

N2 - Development and function of tissues and organs are powered by the activity of mitochondria. In humans, inherited genetic mutations that lead to progressive mitochondrial pathology often manifest during infancy and can lead to death, reflecting the indispensable nature of mitochondrial biogenesis and function. Here, we describe a zebrafish mutant for the gene mia40a (chchd4a), the life-essential homologue of the evolutionarily conserved Mia40 oxidoreductase which drives the biogenesis of cysteine-rich mitochondrial proteins. We report that mia40a mutant animals undergo progressive cellular respiration defects and develop enlarged mitochondria in skeletal muscles before their ultimate death at the larval stage. We generated a deep transcriptomic and proteomic resource that allowed us to identify abnormalities in the development and physiology of endodermal organs, in particular the liver and pancreas. We identify the acinar cells of the exocrine pancreas to be severely affected by mutations in the MIA pathway. Our data contribute to a better understanding of the molecular, cellular and organismal effects of mitochondrial deficiency, important for the accurate diagnosis and future treatment strategies of mitochondrial diseases.

AB - Development and function of tissues and organs are powered by the activity of mitochondria. In humans, inherited genetic mutations that lead to progressive mitochondrial pathology often manifest during infancy and can lead to death, reflecting the indispensable nature of mitochondrial biogenesis and function. Here, we describe a zebrafish mutant for the gene mia40a (chchd4a), the life-essential homologue of the evolutionarily conserved Mia40 oxidoreductase which drives the biogenesis of cysteine-rich mitochondrial proteins. We report that mia40a mutant animals undergo progressive cellular respiration defects and develop enlarged mitochondria in skeletal muscles before their ultimate death at the larval stage. We generated a deep transcriptomic and proteomic resource that allowed us to identify abnormalities in the development and physiology of endodermal organs, in particular the liver and pancreas. We identify the acinar cells of the exocrine pancreas to be severely affected by mutations in the MIA pathway. Our data contribute to a better understanding of the molecular, cellular and organismal effects of mitochondrial deficiency, important for the accurate diagnosis and future treatment strategies of mitochondrial diseases.

U2 - 10.1371/journal.pgen.1007743

DO - 10.1371/journal.pgen.1007743

M3 - Journal article

VL - 14

SP - e1007743

JO - P L o S Genetics

JF - P L o S Genetics

SN - 1553-7390

IS - 11

ER -

ID: 211818979