Associated Research Group Rorbach

Mitochondrial gene expression

Mitochondria house their own genetic system for the expression of thirteen oxidative phosphorylation (OxPhos) subunits encoded by the mitochondrial DNA. Dysfunction of mitochondrial gene expression can lead to human pathologies, and yet our understanding of the basic aspects of mitochondrial genetics remains limited.
Our group employs genetic, proteomic and cryo-EM methods to reveal mechanisms and to identify novel factors involved in mitochondrial gene expression.
This interdisciplinary approach helps us to explore a poorly-understood area of mitochondrial biology with direct relevance to human health.

The specific objectives of our research are:

To characterise, both structurally and biochemically, the mechanisms of mitochondrial protein synthesis.
To investigate mitoribosome biogenesis, including determining the composition and structure of assembly intermediates at different biogenesis stages and identifying novel assembly factors.
To identify and characterise novel factors involved in the regulation of mitochondrial RNA metabolism and translation.
To investigate how defects in mitochondrial gene expression influence human health.

[ more about our research ]

Selected Publications

Mechanism of mitoribosomal small subunit biogenesis and preinitiation

Itoh, Y.*
Khawaja, A.*
Laptev, I.
Cipullo, M.
Atanassov, I.
Sergiev, P.
Rorbach, J.**
Amunts, A.**

(2022) Nature, 606, 7914, 603-608

Human GTPBP5 is involved in the late stage of mitoribosome large subunit assembly

Cipullo, M.
Pearce, S. F.
Lopez Sanchez, I. G.
Gopalakrishna, S.
Kruger, A.
Schober, F.
Busch, J. D.
Li, X.
Wredenberg, A.
Atanassov, I.
Rorbach, J.**

(2021) Nucleic Acids Res, 49, 1, 354-370

Structural basis for late maturation steps of the human mitoribosomal large subunit

Cipullo, M.*
Gese, G. V.*
Khawaja, A.
Hallberg, B. M.**
Rorbach, J.**

(2021) Nat Commun, 12, 1, 3673

Distinct pre-initiation steps in human mitochondrial translation

Khawaja, A.*
Itoh, Y.*
Remes, C.
Spahr, H.
Yukhnovets, O.
Hofig, H.
Amunts, A.**
Rorbach, J.**

(2020) Nat Commun, 11, 1, 2932

C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis

Gopalakrishna, S.*
Pearce, S. F.*
Dinan, A. M.
Schober, F. A.
Cipullo, M.
Spahr, H.
Khawaja, A.
Maffezzini, C.
Freyer, C.
Wredenberg, A.
Atanassov, I.
Firth, A. E.
Rorbach, J.**

(2019) Nucleic Acids Res, 47, 17, 9386-9399

^*equal contribution; ^**corresponding author

Third-party funding

2020-2025 | Wallenberg Research Grant ‘Mitochondrial Methyltransferases - From discovery to disease’
2019-2024 | Wallenberg Research Grant ‘Birth of mitochondrial ribosome’
2019-2020 | Wenner Gren Fellowship
2018-2023 | Wallenberg Academy Fellowship
2018-2020 | Ake Wibergs Fellowship
2018-2020 | Blanceflor Foundation Scholarship
2018-2022 | CSC-KI graduate fellowship
2016-2019 | Marie Curie International Grant

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